Nereo Bresolin
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Biology
Nereo Bresolin's Degrees
- Bachelors Biology University of Milan
- Masters Biotechnology University of Milan
- PhD Molecular Medicine University of Milan
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(Suggest an Edit or Addition)Nereo Bresolin's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Cell Therapy of α-Sarcoglycan Null Dystrophic Mice Through Intra-Arterial Delivery of Mesoangioblasts (2003) (645)
- Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle. (2004) (384)
- Disorders of cognitive and affective development in cerebellar malformations. (2007) (321)
- In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. (1991) (297)
- Identification of a Primitive Brain–Derived Neural Stem Cell Population Based on Aldehyde Dehydrogenase Activity (2006) (295)
- Intraarterial Injection of Muscle-Derived Cd34+Sca-1+ Stem Cells Restores Dystrophin in mdx Mice (2001) (280)
- Intrathecal chemokine synthesis in mild cognitive impairment and Alzheimer disease. (2006) (269)
- Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions (2009) (266)
- Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease (1998) (248)
- Autologous Transplantation of Muscle-Derived CD133+ Stem Cells in Duchenne Muscle Patients (2007) (233)
- Oxidative imbalance in patients with mild cognitive impairment and Alzheimer's disease (2006) (213)
- Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy (2012) (195)
- Serum MCP-1 levels are increased in mild cognitive impairment and mild Alzheimer's disease (2006) (185)
- Cognitive impairment in Duchenne muscular dystrophy (1994) (176)
- Fatal infantile cytochrome c oxidase deficiency (1985) (165)
- Muscle coenzyme Q10 level in statin-related myopathy. (2005) (164)
- Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients (2008) (163)
- Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice. (2007) (160)
- Selective DNA Methylation of BDNF Promoter in Bipolar Disorder: Differences Among Patients with BDI and BDII (2012) (160)
- Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. (1990) (157)
- Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis (2011) (157)
- A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation (2004) (153)
- Intracellular delivery of a Tat-eGFP fusion protein into muscle cells. (2001) (152)
- Direct reprogramming of human astrocytes into neural stem cells and neurons (2012) (152)
- Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. (2006) (147)
- Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up (2011) (147)
- Widespread balancing selection and pathogen-driven selection at blood group antigen genes. (2009) (147)
- Silencer elements as possible inhibitors of pseudoexon splicing. (2004) (141)
- Human skin‐derived stem cells migrate throughout forebrain and differentiate into astrocytes after injection into adult mouse brain (2004) (141)
- Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model. (2007) (133)
- Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. (2008) (132)
- The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. (2009) (131)
- Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. (1994) (130)
- Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). (1991) (129)
- Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. (2010) (128)
- A study to compare oral sumatriptan with oral aspirin plus oral metoclopramide in the acute treatment of migraine. The Oral Sumatriptan and Aspirin plus Metoclopramide Comparative Study Group. (1992) (128)
- Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression (2007) (127)
- Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2 (2012) (125)
- β‐enolase deficiency, a new metabolic myopathy of distal glycolysis (2001) (124)
- Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. (1994) (122)
- Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. (2013) (120)
- Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial (1990) (118)
- Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10 (1988) (114)
- Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy (2000) (113)
- A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood (2004) (111)
- [Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice]. (2008) (111)
- Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome (1998) (109)
- Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. (2010) (109)
- Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels (2002) (107)
- Production of monocyte chemoattractant protein‐1 in amyotrophic lateral sclerosis (2005) (106)
- MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives (2015) (104)
- Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria (1984) (102)
- Progressive cytochrome c oxidase deficiency in a case of earns‐sayre syndrome: Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues (1987) (101)
- POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions (2003) (101)
- Marked aging‐related decline in efficiency of oxidative phosphorylation in human skin fibroblasts (2003) (101)
- TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations (2009) (100)
- Vascular endothelial growth factor gene variability is associated with increased risk for AD (2005) (100)
- Neuroectodermal and microglial differentiation of bone marrow cells in the mouse spinal cord and sensory ganglia (2002) (100)
- Gait pattern in Duchenne muscular dystrophy. (2009) (99)
- Aging-dependent Functional Alterations of Mitochondrial DNA (mtDNA) from Human Fibroblasts Transferred into mtDNA-less Cells* (1996) (99)
- Induction of Neurotrophin Expression via Human Adult Mesenchymal Stem Cells: Implication for Cell Therapy in Neurodegenerative Diseases (2007) (99)
- The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease (2020) (98)
- Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis (2013) (97)
- Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model (2013) (95)
- A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia (2008) (92)
- Mitochondrial Fusion Proteins and Human Diseases (2013) (90)
- The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. (2006) (89)
- Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. (2012) (88)
- Skin‐derived stem cells transplanted into resorbable guides provide functional nerve regeneration after sciatic nerve resection (2007) (88)
- Genetic polymorphisms for the study of multifactorial stroke (2008) (87)
- Carnitine, carnitine acyltransferases, and rat brain function (1982) (87)
- Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. (2006) (86)
- Growth factors in ischemic stroke (2009) (85)
- Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient (1991) (85)
- Parkinson's Disease and Brain Mitochondrial Dysfunction: A Functional Phosphorus Magnetic Resonance Spectroscopy Study (2006) (84)
- Spontaneous blinking in healthy persons: an optoelectronic study of eyelid motion (2008) (83)
- Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection. (2010) (83)
- Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease (2009) (83)
- Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction (2008) (82)
- Cognitive impairment in neuromuscular disorders (2006) (79)
- Modulated Generation of Neuronal Cells from Bone Marrow by Expansion and Mobilization of Circulating Stem Cells with in Vivo Cytokine Treatment (2002) (77)
- MCP-1 in Alzheimer’s disease patients: A-2518G polymorphism and serum levels (2004) (77)
- Intrathecal chemokine levels in Alzheimer disease and frontotemporal lobar degeneration (2006) (77)
- A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse. (2002) (76)
- Stem cell therapy in stroke (2009) (76)
- Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. (2013) (75)
- The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis (2017) (75)
- Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration (2008) (75)
- Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies (2000) (73)
- Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials. (2014) (73)
- A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early Lethality (2004) (72)
- Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences. (2005) (71)
- Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies (2012) (71)
- Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency (2004) (71)
- The signature of long-standing balancing selection at the human defensin β-1 promoter (2008) (70)
- The apolipoprotein E ϵ4 allele causes a faster decline of cognitive performances in Down's syndrome subjects (1997) (70)
- Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies (2005) (69)
- Mitochondrial Abnormalities in Migraine. Preliminary Findings. (1988) (69)
- Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations. (2012) (68)
- Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation (2009) (68)
- CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. (2015) (68)
- Multisystem triglyceride storage disorder with impaired long‐chain fatty acid oxidation (1980) (68)
- Identification of a putative pathway for the muscle homing of stem cells in a muscular dystrophy model (2003) (67)
- Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis (2006) (67)
- Both selective and neutral processes drive GC content evolution in the human genome (2008) (66)
- Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation (2006) (66)
- Multipotentiality, homing properties, and pyramidal neurogenesis of CNS‐derived LeX(ssea‐1)+/CXCR4+ stem cells (2005) (65)
- The landscape of human genes involved in the immune response to parasitic worms (2010) (65)
- The low-affinity receptor for neurotrophins p75NTR plays a key role for satellite cell function in muscle repair acting via RhoA. (2009) (64)
- Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis. (2010) (64)
- Long-term neuropsychological deficits after cerebellar infarctions in two young adult twins (2004) (64)
- Tumor Necrosis Factor-α (TNF-α) Stimulates Chemotactic Response in Mouse Myogenic Cells (2003) (64)
- Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy (2013) (64)
- Genome-Wide Identification of Susceptibility Alleles for Viral Infections through a Population Genetics Approach (2010) (64)
- VCAM-1 expression on dystrophic muscle vessels has a critical role in the recruitment of human blood-derived CD133+ stem cells after intra-arterial transplantation. (2006) (63)
- New mutations in TK2 gene associated with mitochondrial DNA depletion. (2006) (63)
- Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain (2003) (62)
- Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice (2007) (61)
- Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis (2014) (61)
- Peripheral neuropathy in mitochondrial disease (1987) (61)
- Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. (2011) (60)
- Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. (2009) (59)
- Brain Activation in Normal Subjects and in Patients Affected by Mitochondrial Disease without Clinical Central Nervous System Involvement: A Phosphorus Magnetic Resonance Spectroscopy Study (2001) (59)
- Chemotactic factors enhance myogenic cell migration across an endothelial monolayer. (2001) (59)
- A novel CLN8 mutation in late‐infantile‐onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function (2009) (59)
- Neural Stem Cell Transplantation for Neurodegenerative Diseases (2020) (58)
- Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients (2012) (57)
- Effect of human skin-derived stem cells on vessel architecture, tumor growth, and tumor invasion in brain tumor animal models. (2007) (57)
- High tumor necrosis factor‐α in levels in cerebrospinal fluid of cobalamin‐deficient patients (2004) (55)
- Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration. (2011) (55)
- Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures (2011) (55)
- Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene (2010) (54)
- Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation (2001) (54)
- A novel mutation in the β‐tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance (2012) (53)
- Skeletal muscle gene expression profiling in mitochondrial disorders (2005) (52)
- Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases (2014) (52)
- Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes. (2010) (51)
- The evolutionary history of genes involved in spoken and written language: beyond FOXP2 (2016) (51)
- A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis (2012) (51)
- Carnitine palmityl transferase deficiency (1981) (51)
- Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency (2008) (50)
- Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis (2015) (50)
- A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation (2010) (50)
- Novel exon 1 progranulin gene variant in Alzheimer’s disease (2008) (50)
- Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic patients. (2012) (49)
- Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. (2008) (49)
- Clinical varieties of neuromuscular disease in debrancher deficiency. (1984) (48)
- Progranulin Gene Variability and Plasma Levels in Bipolar Disorder and Schizophrenia (2012) (48)
- Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. (2000) (47)
- Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients (2002) (46)
- Effect of combined systemic and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype. (2014) (46)
- Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population (2003) (46)
- High‐resolution X‐ray microtomography for three‐dimensional visualization of human stem cell muscle homing (2006) (46)
- Absence of angiogenic genes modification in Italian ALS patients (2008) (45)
- Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy (2018) (45)
- High mutational burden in the mtDNA control region from aged muscles: a single-fiber study (2003) (45)
- MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors (2018) (44)
- The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K (2010) (44)
- Brain Mitochondria, Aging, and Parkinson’s Disease (2018) (44)
- Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach (2007) (44)
- Leber's hereditary optic neuropathy (1991) (43)
- Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (2006) (43)
- Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site (2011) (43)
- Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study (1999) (43)
- Intron size in mammals: complexity comes to terms with economy. (2007) (43)
- The dystrophin gene is alternatively spliced throughout its coding sequence (2002) (42)
- Cerebrospinal fluid biomarkers in Progranulin mutations carriers. (2011) (42)
- Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene (2006) (42)
- Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons. (2016) (41)
- Mitochondrial DNA G8363A mutation in the tRNALys gene: Clinical, biochemical and pathological study (2009) (41)
- SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation (2007) (41)
- Induced neural stem cells: Methods of reprogramming and potential therapeutic applications (2014) (41)
- Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches (2015) (40)
- VEGF genetic variability is associated with increased risk of developing Alzheimer's disease (2009) (40)
- Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing (2011) (40)
- Human fetal brain chemistry as detected by proton magnetic resonance spectroscopy. (2009) (40)
- Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment (1986) (40)
- A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures (2008) (40)
- Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia (2008) (40)
- The benzodiazepine receptor of mammalian brain. (1980) (39)
- Respiratory pattern in an adult population of dystrophic patients (2011) (39)
- Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations (2012) (39)
- Lactate detection in the brain of growth-restricted fetuses with magnetic resonance spectroscopy. (2011) (38)
- Tumor necrosis factor-alpha (TNF-alpha) stimulates chemotactic response in mouse myogenic cells. (2003) (38)
- “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia (2019) (38)
- Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1) (2009) (38)
- Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL (2006) (38)
- Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy (2010) (37)
- Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients (2005) (37)
- Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample. (2017) (37)
- Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction (2009) (37)
- Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy (2018) (37)
- Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy (1994) (36)
- Evaluation of narrative abilities in patients suffering from Duchenne Muscular Dystrophy (2007) (36)
- Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy (1999) (36)
- Disorders of glycogen metabolism of muscle. (1989) (36)
- OASes and STING: Adaptive Evolution in Concert (2015) (36)
- An Evolutionary Analysis of Antigen Processing and Presentation across Different Timescales Reveals Pervasive Selection (2014) (36)
- Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation (2014) (36)
- Diverse evolutionary histories for beta-adrenoreceptor genes in humans. (2009) (36)
- Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model (2015) (35)
- Diagnostic and Prognostic Role of Blood and Cerebrospinal Fluid and Blood Neurofilaments in Amyotrophic Lateral Sclerosis: A Review of the Literature (2019) (35)
- Congenital myopathy associated with abnormal accumulation of desmin and dystrophin (1992) (35)
- The role of protozoa-driven selection in shaping human genetic variability. (2010) (35)
- Inducible nitric oxide synthase (iNOS) in immune-mediated demyelination and Wallerian degeneration of the rat peripheral nervous system (2004) (35)
- Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria (2001) (34)
- Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study (2016) (34)
- Cytochrome c oxidase deficiency. (1985) (34)
- VEGF gene variability and type 1 diabetes: evidence for a protective role (2006) (34)
- Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation (2014) (34)
- Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics. (2005) (33)
- Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency (2003) (33)
- Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS) (2020) (33)
- Lack of apoptosis in mitochondrial encephalomyopathies (2001) (33)
- Acute diazepam administration produces rapid increases in brain benzodiazepine receptor density. (1979) (33)
- The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects (2003) (33)
- Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy (2012) (33)
- Association of a NOS1 promoter repeat with Alzheimer's disease (2008) (33)
- R-Loops in Motor Neuron Diseases (2018) (32)
- Kearns-Sayre syndrome: Different amounts of deleted mitochondrial DNA are present in several autoptic tissues (1990) (32)
- Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms (2011) (32)
- The apolipoprotein E epsilon4 allele causes a faster decline of cognitive performances in Down's syndrome subjects. (1997) (32)
- Muscle phosphogylcerate mutase (PGAM) deficiency (1983) (32)
- Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns (2006) (32)
- Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients (2020) (32)
- ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development (2011) (31)
- Study of Attentional Processes in Children With Idiopathic Epilepsy by Conners' Continuous Performance Test (2004) (31)
- Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy. (2012) (31)
- Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. (2002) (31)
- Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic (2020) (31)
- A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles. (2013) (31)
- DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients (2008) (31)
- CCR2-64I polymorphism and CCR5Δ32 deletion in patients with Alzheimer's disease (2004) (31)
- Senataxin modulates neurite growth through fibroblast growth factor 8 signalling. (2011) (31)
- Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot (2003) (30)
- Fate of autologous dermal stem cells transplanted into the spinal cord after traumatic injury (TSCI) (2004) (30)
- Sodium-dependent, high-affinity taurine transport into rat brain synaptosomes. (1980) (30)
- A POSITIVELY SELECTED APOBEC3H HAPLOTYPE IS ASSOCIATED WITH NATURAL RESISTANCE TO HIV‐1 INFECTION (2011) (30)
- Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation (2003) (30)
- Intramuscular Migration of Myoblasts Transplanted after Muscle Pretreatment with Metalloproteinases (2000) (30)
- Brain temperature: What do we know? (2012) (30)
- Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype (2016) (30)
- Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC) (2005) (29)
- Novel missense mutation and large deletion of GNE gene in autosomal‐recessive inclusion‐body myopathy (2003) (29)
- iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1 (2014) (29)
- Novel splice‐site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy (2010) (29)
- Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders (2014) (29)
- The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration (2009) (29)
- Progranulin gene (GRN) promoter methylation is increased in patients with sporadic frontotemporal lobar degeneration (2013) (29)
- Ancient and Recent Selective Pressures Shaped Genetic Diversity at AIM2-Like Nucleic Acid Sensors (2014) (28)
- Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis (2008) (28)
- Glucose-6-phosphate dehydrogenase Lodi844C: a study on its expression in blood cells and muscle. (1991) (28)
- Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum (2009) (28)
- Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL (2002) (28)
- Altered glutamate uptake in peripheral tissues from Down Syndrome patients (2003) (28)
- GRN variability contributes to sporadic frontotemporal lobar degeneration. (2010) (28)
- A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis (2012) (28)
- Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease? (2020) (28)
- Muscle glucose-6-phosphate dehydrogenase deficiency (1989) (28)
- Multiparametric quantitative MRI assessment of thigh muscles in limb‐girdle muscular dystrophy 2A and 2B (2018) (27)
- Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders (2017) (27)
- Early peripheral nerve abnormalities in impaired glucose tolerance. (2005) (27)
- Comparative analysis of the human dystrophin and utrophin gene structures. (2002) (27)
- Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies (2019) (27)
- Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers (2020) (27)
- A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness (2003) (27)
- Glycogen storage disease type III: A novel Agl knockout mouse model. (2014) (27)
- Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition (2012) (26)
- Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving (2011) (26)
- Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation (2012) (26)
- A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia (2011) (26)
- Crohn's disease loci are common targets of protozoa-driven selection. (2013) (26)
- A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. (1995) (26)
- Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy. (2018) (25)
- Clinical studies in stem cells transplantation for stroke: a review. (2010) (25)
- A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism. (2015) (25)
- Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA) (2014) (25)
- A collection of 33 novel human mtDNA homoplasmic variants (2002) (25)
- Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects (2006) (25)
- Correlation of Circulating CD133+ Progenitor Subclasses with a Mild Phenotype in Duchenne Muscular Dystrophy Patients (2008) (24)
- Synaptotagmin 13 is neuroprotective across motor neuron diseases (2020) (24)
- Physiologic assessment of phosphoglycerate mutase deficiency (1985) (24)
- Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion (2003) (24)
- Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes (2010) (24)
- New molecular findings in congenital myopathies due to selenoprotein N gene mutations (2011) (24)
- Mutational analysis of COQ2 in patients with MSA in Italy (2016) (23)
- Congenital myopathy due to phosphorylase deficiency (1983) (23)
- IP‐10 serum levels are not increased in mild cognitive impairment and Alzheimer's disease (2007) (23)
- Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal lobar degeneration. (2008) (23)
- Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration (2007) (23)
- Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin (2010) (23)
- Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis. (2011) (23)
- iPSC-derived LewisX+CXCR4+β1-integrin+ neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models. (2016) (23)
- Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons (2019) (23)
- The influence of coenzyme Q10 on total serum calcium concentration in two patients with kearns-sayre syndrome and hypoparathyroidism (1996) (23)
- Cerebellar degeneration and hearing loss in a patient with idiopathic myenteric ganglionitis. (2005) (22)
- A population genetics study of the Familial Mediterranean Fever gene: evidence of balancing selection under an overdominance regime (2009) (22)
- Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations (2014) (22)
- Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature. (2003) (22)
- Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene (2009) (22)
- Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation (2014) (22)
- Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown–Vialetto disease that is partially rescued by riboflavin (2017) (22)
- The T-786C NOS3 polymorphism in Alzheimer's disease: Association and influence on gene expression (2005) (22)
- MDC/CCL22 intrathecal levels in patients with multiple sclerosis (2008) (22)
- Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients (2012) (22)
- Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration (2007) (21)
- Increased brain temperature in Parkinson’s disease (2012) (21)
- Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. (1992) (21)
- Intramuscular migration of myoblasts transplanted after muscle pretreatment with metalloproteinases. (2000) (21)
- Parkinson's disease, chronic hydrocarbon exposure and striatal neuronal damage: a 1-H MRS study. (2006) (21)
- Developmental and tissue‐specific regulation of a novel dysferlin isoform (2004) (21)
- Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase (2020) (21)
- CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course (2007) (21)
- A CAV3 microdeletion differentially affects skeletal muscle and myocardium (2003) (20)
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- Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis (2019) (20)
- Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis (2012) (20)
- First case of compound heterozygosity in ALS2 gene in infantile‐onset ascending spastic paralysis with bulbar involvement (2008) (20)
- Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy (2013) (20)
- Direct Reprogramming of Adult Somatic Cells into other Lineages: Past Evidence and Future Perspectives (2013) (20)
- Chronic progressive external ophthalmoplegia: A correlative study of quantitative molecular data and histochemical and biochemical profile (1994) (20)
- Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families (2012) (20)
- Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms (2001) (20)
- Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature (2018) (20)
- Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis (1993) (19)
- Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation. (2011) (19)
- Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis (2011) (19)
- Trans‐acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles (2003) (19)
- Magnetic resonance spectroscopy in Parkinson's disease and parkinsonian syndromes. (2007) (19)
- A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double‐strand breaks in yeast (2006) (19)
- Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature (2013) (19)
- Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males (2010) (19)
- Evolutionary analysis of the contact system indicates that kininogen evolved adaptively in mammals and in human populations. (2013) (19)
- Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. (1989) (19)
- Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. (2019) (19)
- Association of neuronal nitric oxide synthase C276T polymorphism with Alzheimer’s disease (2005) (18)
- Ex vivo expansion of human circulating myogenic progenitors on cluster-assembled nanostructured TiO2. (2010) (18)
- SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. (2020) (18)
- MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis (2019) (18)
- Chemokine network in multiple sclerosis: role in pathogenesis and targeting for future treatments (2004) (18)
- An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype (2004) (18)
- The Brain is Hypothermic in Patients with Mitochondrial Diseases (2014) (18)
- Electrophysiological analysis of cognitive slowing in subjects with mitochondrial encephalomyopathy (2002) (18)
- GSK3β genetic variability in patients with Multiple Sclerosis (2011) (17)
- An atypical case of partial merosin deficiency congenital muscular dystrophy (1997) (17)
- Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt–Jakob disease (2011) (17)
- No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort (2011) (17)
- CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease. (2004) (17)
- Alternative Sources of Neurons and Glia from Somatic Stem Cells (2002) (17)
- Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease (2006) (17)
- New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients (2016) (17)
- Role of VEGF gene variability in longevity: A lesson from the Italian population (2008) (17)
- Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant. (2012) (17)
- E-selectin A561C and G98T polymorphisms influence susceptibility and course of multiple sclerosis (2005) (17)
- Stem Cell Salvage of Injured Peripheral Nerve (2014) (16)
- A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation (2012) (16)
- Posterior reversible encephalopathy syndrome and COVID-19: A series of 6 cases from Lombardy, Italy (2020) (16)
- Heparan sulfate proteoglycan induces the production of NO and TNF-α by murine microglia (2005) (16)
- CHCHD 10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis (2015) (16)
- Multicenter trial with ubidecarenone: treatment of 44 patients with mitochondrial myopathies. (1991) (16)
- Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7. (2010) (16)
- A Cortically Blind Patient With Preserved Visual Imagery (2010) (16)
- Muscle glucose 6‐phosphate dehydrogenase (G6PD) deficiency and oxidant stress during physical exercise (1995) (15)
- Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation (2011) (15)
- A de novo C19orf12 heterozygous mutation in a patient with MPAN. (2017) (15)
- Molecular Approaches for the Treatment of Pompe Disease (2019) (15)
- Natural Selection at the Brush-Border: Adaptations to Carbohydrate Diets in Humans and Other Mammals (2015) (15)
- Mutational analysis of the AGL gene: Five novel mutations in GSD III patients (2003) (15)
- Muscle expression of glucose‐6‐phosphate dehydrogenase deficiency in different variants (1995) (15)
- Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art (2019) (15)
- Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme (1984) (15)
- High tumor necrosis factor-alpha [corrected] levels in cerebrospinal fluid of cobalamin-deficient patients. (2004) (15)
- BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease. (2011) (14)
- Effect of steroid treatment in cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies (2008) (14)
- Incidence and Risk Factors of Motor Neuron Disease in the Venice and Padua Districts of Italy, 1972–1979 (1983) (14)
- Report of the 95th European Neuromuscular Centre (ENMC) sponsored International Workshop Cognitive Impairment in Neuromuscular Disorders, Naarden, The Netherlands, 13–15 July 2001 (2003) (14)
- A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations (2014) (14)
- MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels. (2009) (14)
- Bezafibrate-induced myopathy: no evidence for defects in muscle metabolism. (1993) (14)
- A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy (2005) (14)
- A novel nonsense mutation in the APTX gene associated with delayed DNA single‐strand break removal fails to enhance sensitivity to different genotoxic agents (2011) (14)
- Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency (1994) (14)
- Amino acid changes in the amino terminus of the Na,K‐adenosine triphosphatase alpha‐2 subunit associated to familial and sporadic hemiplegic migraine (2007) (14)
- Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives (2020) (14)
- Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency. (2000) (13)
- Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C (1995) (13)
- Abnormal brain temperature in early‐onset Parkinson's disease (2016) (13)
- Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and31P-MR spectroscopy (1994) (13)
- The mammalian complement system as an epitome of host–pathogen genetic conflicts (2016) (13)
- Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases (1994) (13)
- SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis (2006) (13)
- Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies (1994) (13)
- Variants in SNAP25 are targets of natural selection and influence verbal performances in women (2012) (13)
- DCUN1D1 is a risk factor for frontotemporal lobar degeneration (2009) (13)
- P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis (2005) (13)
- Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease. (2007) (13)
- Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion (2008) (13)
- Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing. (2004) (13)
- Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature (2019) (12)
- A complex selection signature at the human AVPR1B gene (2009) (12)
- Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa (1999) (12)
- Albuminoid Genes: Evolving at the Interface of Dispensability and Selection (2014) (12)
- Ultrastructural mitochondrial abnormalities in patients with sporadic amyotrophic lateral sclerosis. (2011) (12)
- A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. (1998) (12)
- Central nervous system involvement in HCV-related mixed cryoglobulinemia. (2006) (12)
- Muscle biopsy in Alzheimer's disease: morphological and biochemical findings. (1991) (12)
- The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine (2011) (12)
- Optic Neuritis as Isolated Manifestation of Leptomeningeal Carcinomatosis: A Case Report and Systematic Review of Ocular Manifestations of Neoplastic Meningitis (2013) (11)
- Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin’s Lymphoma: A Case Report (2017) (11)
- Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment (2004) (11)
- Efficacy and tolerability of eperisone in patients with spastic palsy: a cross-over, placebo-controlled dose-ranging trial. (2009) (11)
- VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome. (2010) (11)
- Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets (1987) (11)
- Sciatic endometriosis presenting as periodic (catamenial) sciatic radiculopathy (2012) (11)
- Muscle mitochondria investigation in myotonic dystrophy. (1993) (11)
- In Vitro and In Vivo Tetracycline-Controlled Myogenic Conversion of NIH-3T3 Cells: Evidence of Programmed Cell Death after Muscle Cell Transplantation (2001) (11)
- Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights (2019) (11)
- Candidate gene analysis of semaphorins in patients with Alzheimer’s disease (2010) (11)
- A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature (2018) (10)
- Clinical experience with topiramate dosing and serum levels in patients with epilepsy (2006) (10)
- Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration? (2010) (10)
- Progressive, isolated language disturbance: Its significance in a 65-year-old-man. A case report with implications for treatment and review of literature (2006) (10)
- CD20-related signaling pathway is differently activated in normal and dystrophic circulating CD133+ stem cells (2009) (10)
- Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle (2001) (10)
- Alpha1-antichymotrypsin induces TNF-α production and NF-κB activation in the murine N9 microglial cell line (2009) (10)
- Mental health and coping strategies in families of children and young adults with muscular dystrophies (2020) (10)
- Treatment of anxiety with ketazolam in elderly patients. (1988) (10)
- Extracorporeal Circulation as a New Experimental Pathway for Myoblast Implantation in mdx Mice (1999) (9)
- Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets (2015) (9)
- A novel mitochondrial tRNAIle point mutation in chronic progressive external ophthalmoplegia (1998) (9)
- Aphasic and visual aura with increased vasogenic leakage: An atypical migrainosus status (2009) (9)
- Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease. (2017) (9)
- PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics. (2013) (9)
- Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation (2009) (9)
- Candidate gene analysis of selectin cluster in patients with multiple sclerosis (2009) (9)
- Down's syndrome fibroblasts anticipate the accumulation of specific ageing‐related mtDNA mutations (2001) (9)
- Long‐Standing Balancing Selection in the THBS4 Gene: Influence on Sex‐Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease (2013) (9)
- In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay (2014) (9)
- Genetics and neurobiology of frontotemporal lobar degeneration (2006) (9)
- Language Disturbances in a Group of Participants Suffering from Duchenne Muscular Dystrophy: A Pilot Study (2007) (9)
- G.P.3.04 Rescue of human dystrophin after transplantation of exon skipping-engineered DMD stem cells in a dystrophic animal model (2007) (9)
- Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype (2015) (9)
- Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency (2020) (9)
- Paroxysmal Nocturnal Hemoglobinuria (Pnh): Brain Mri Ischemic Lesions In Neurologically Asymtomatic Patients (2018) (9)
- Neural Stem Cells Generate Motor Neurons and Delay Disease Progression of nmd Mice , an Animal Model of SMARD 1 (2005) (9)
- CCL8/MCP-2 association analysis in patients with Alzheimer’s disease and frontotemporal lobar degeneration (2009) (9)
- Cytochrome c oxidase during human fetal development (1989) (9)
- Post-Activation Brain Warming: A 1-H MRS Thermometry Study (2015) (8)
- A case of mitochondrial myopathy, lactic acidosis and complex I deficiency (1990) (8)
- Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents (2014) (8)
- Population Genetics of IFIH 1 : Ancient Population Structure , Local Selection , and Implications for Susceptibility to Type 1 Diabetes (2011) (8)
- Growing Evidence about the Relationship between Vessel Dissection and Scuba Diving (2013) (8)
- Investigation of New Morpholino Oligomers to Increase Survival Motor Neuron Protein Levels in Spinal Muscular Atrophy (2018) (8)
- McArdle's disease: two clinical expressions in the same pedigree (1990) (8)
- ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases (2015) (8)
- Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases. (2004) (8)
- Multiple neutral maltase activities in normal and acid maltase-deficient human muscle (1984) (8)
- Charcot-Marie-Tooth type 1a in a child with Long QT syndrome. (2009) (8)
- Anti-MuSK-Positive Myasthenia Gravis in a Patient with Parkinsonism and Cognitive Impairment (2011) (7)
- Biodistribution studies of 99mTc-labeled myoblasts in a murine model of muscular dystrophy. (2001) (7)
- Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG (2020) (7)
- Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia☆ (2011) (7)
- Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1) (2020) (7)
- Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis (2007) (7)
- Phosphorylase isoenzymes of human brain (1983) (7)
- A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia (2021) (6)
- Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature (2018) (6)
- Iron release and oxidant damage in human myoblasts by divicine. (2000) (6)
- Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review (2021) (6)
- Faculty Opinions recommendation of Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. (2006) (6)
- Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene (2006) (6)
- CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1 (2019) (6)
- Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration. (2012) (6)
- Transthyretin asn90 variant: Amyloidogenic or non-amyloidogenic role (2009) (6)
- IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis (2010) (6)
- TO JMG A novel mutation in the ATP 1 A 2 gene causes alternating hemiplegia of childhood (2004) (6)
- Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of melanoma. (2009) (5)
- Usefulness of Multi-Parametric MRI for the Investigation of Posterior Cortical Atrophy (2015) (5)
- Migraine, stroke and patent foramen ovale: a dangerous trio? (2008) (5)
- Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome. (2019) (5)
- Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice (2018) (5)
- Central hyperthermia, brain hyperthermia and low hypothalamus temperature (2012) (5)
- An evolutionary history of the selectin gene cluster in humans (2012) (5)
- Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations (2010) (5)
- Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model (2021) (5)
- Low doses of ketazolam in anxiety: a double-blind, placebo-controlled study. (1988) (4)
- Burden of rare coding variants in an Italian cohort of familial multiple sclerosis (2021) (4)
- Guillain–Barré syndrome after rtPA therapy for acute stroke (2010) (4)
- Intra‐aortic injection of myoblasts in mdx mice: Genetic and technetium‐99m cell labeling and biodistribution (1997) (4)
- T-antigen regulated expression reduces apoptosis of Tag-transformed human myoblasts (2001) (4)
- The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment (2011) (4)
- Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient (2018) (4)
- Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations (2021) (4)
- Neural regulation of acid maltase in an unusual adult onset deficiency. (1994) (4)
- Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis (2020) (4)
- Case Report: Efficacy of Rituximab in a Patient With Familial Mediterranean Fever and Multiple Sclerosis (2021) (4)
- Neuronal localization of benzodiazepine receptors in the murine cerebellum. (1981) (4)
- Frequency of the Chromosome 9 C9ORF72 Hexanucleotide Repeats in Italian Patients with Frontotemporal Lobar Degeneration (2012) (4)
- Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225. (2011) (4)
- Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis? (2009) (4)
- Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature (2020) (3)
- Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations (2021) (3)
- Two dystrophin proteins and transcripts in a mild dystrophinopathic patient (2003) (3)
- Acute rhabdomyolysis induced by tonic–clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency (2013) (3)
- Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia (2020) (3)
- Brain temperature in multiple sclerosis (2014) (3)
- Impact of COVID‐19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy (2021) (3)
- Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye (2018) (3)
- Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency (1993) (3)
- Immunological and biochemical studies and pilot therapeutic trial with ubidecarenone in Kearns-Sayre patients. (1988) (3)
- Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report (2020) (3)
- Corrigendum: A G+1 → A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient (Human Molecular Genetics (1995) 4 (2171-2174)) (1996) (3)
- Clonal analysis and differentiative properties of adult human muscle cells (1986) (3)
- Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features (1987) (3)
- Microscopic Polyangiitis With Selective Involvement of Central and Peripheral Nervous System: A Case Report (2020) (3)
- Muscular Dystrophy: Central Nervous System α-Dystroglycan Glycosylation Defects and Brain Malformation (2010) (2)
- Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial (2022) (2)
- FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration. (2010) (2)
- Absence of mental retardation in a DMD gene deletion involving brain dystrophin promoter (1992) (2)
- G.P.251 The Italian Registry of Limb Girdle Muscular Dystrophy: Natural history, genotype–phenotype correlations and outcome measures (2014) (2)
- Clinical Reasoning: A 75-year-old man with parkinsonism, mood depression, and weight loss (2018) (2)
- A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation (2020) (2)
- Effect of Kainic Acid Lesions on Taurine Transport into Rat Brain Synaptosomes (1981) (2)
- Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes (2022) (2)
- Anti-sulfatide reactivity in patients with celiac disease (2017) (2)
- Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants (2008) (2)
- THE TREATMENT OF TOURETTE SYNDROME WITH DEEP BRAIN STIMULATION : A CASE REPORT (2005) (2)
- Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. (2018) (2)
- P3-219: Progranulin gene mutation scanning in Alzheimer's disease and frontotemporal lobar degeneration: Functional and phenotypic correlations (2008) (2)
- Cryptogenic Epileptic Syndromes Related to SCN1A (2017) (2)
- G.P.174 Behavioral and neurocognitive profile in Duchenne Muscular Dystrophy (2014) (2)
- Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis (2019) (2)
- Cardiac Improvement after Coenzyme Q10 Treatment in Patients with Kearns-Sayre Syndrome (1987) (2)
- Animal Models of CMT2A: State-of-art and Therapeutic Implications (2020) (2)
- The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis (2016) (2)
- Transplantation of an iPSC-derived CD15+CXCR4+VLA4+ neural stem cell subpopulation as a new therapy for ALS. (I8-1A) (2015) (1)
- Screening of CHCHD10 in an Italian cohort of ALS/ALS-FTD patients (P2.051) (2015) (1)
- Progranulin genetic variability in primary progressive multiple sclerosis (2009) (1)
- Faculty Opinions recommendation of Exome sequencing reveals VCP mutations as a cause of familial ALS. (2011) (1)
- NMP017 Neuropsychological assessment in Duchenne muscular dystrophy (2007) (1)
- HEREDITARY SPHEROCYTOSIS IN PERONEAL MUSCULAR ATROPHY (1978) (1)
- P03.5 Optoelectronic Plethysmography for respiratory assessment in Muscular Duchenne Dystrophy (2011) (1)
- Faculty Opinions recommendation of Mitochondrial changes within axons in multiple sclerosis. (2009) (1)
- G.P.7.05 Becker muscular dystrophy with a stop codon mutation in the 5′ of the dystrophin gene (2008) (1)
- Genetics and expression analysis of the transcription factor Sp4 in patients with Alzheimer’s disease and frontotemporal lobar degeneration. (2011) (1)
- D.P.3.12 Autosomal recessive Ala93Thr mutation of caveolin-3 gene: A new family (2008) (1)
- Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies (2021) (1)
- Muscle glucose‐6‐phosphate dehydrogenase deficiency: Restoration of enzymatic activity in hybrid myotubes (1993) (1)
- Balancing selection in the extended MHC region maintains a subset of alleles with opposite risk profile for different autoimmune diseases (2010) (1)
- Safety of systemic chemotherapy in a patient with mitochondrial myopathy and non-small-cell lung cancer. (2012) (1)
- Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle (2004) (1)
- G.P.15.08 Language and reading disorders in Duchenne muscular dystrophy: Neuropsychological assessment (2007) (1)
- P1.12 Duchenne muscular dystrophy and optoelectronic plethysmography: A longitudinal study of respiratory function (2011) (1)
- Selective DNA methylation of BDNF promoter and nociceptin gene in bipolar disorder (2011) (1)
- Advantages of the optoelectronic plethysmography in the evaluation of respiratory muscle function in DMD boys with scoliosis and spinal fusion (2012) (1)
- Faculty Opinions recommendation of Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. (2012) (1)
- Phenotypic heterogeneity of the GRN ASP22ffs mutation in a large Italian kindred (2011) (1)
- M.P.2.05 Optoelectronic plethysmography in respiratory assessment in Duchenne muscular dystrophy (2009) (1)
- Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility (1995) (1)
- RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A (S58.005) (2019) (1)
- M.P.2.04 Bioengineering and muscular dystrophy (2009) (1)
- Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene (2020) (1)
- Optoelectronic plethysmography for respiratory assessment in muscular duchenne dystrophy (2009) (1)
- No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis (2014) (1)
- The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment (2010) (1)
- CACNA1S mutation associated with a case of juvenile-onset congenital myopathy (2021) (1)
- Herpes Simplex virus type 2 myeloradiculitis with a pure motor presentation in a liver transplant recipient (2019) (1)
- Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition (2011) (1)
- Expanding the genotypic and phenotypic spectrum of Beta‐propeller potein‐associated neurodegeneration (2020) (1)
- Covid-19-associated Guillain-Barré syndrome in the first wave of COVID-19 pandemic in Lombardia: Increased incidence or increased seroprevalence? (2021) (1)
- Erratum: High tumor necrosis factor-α in levels in cerebrospinal fluid of cobalamin-deficient patients (Annals of Neurology (2004) 56 (886-890)) (2005) (1)
- Cytochrome c oxidase deficiency. (2002) (1)
- Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives (2020) (0)
- T.P.1 08 Autologous transplantation of muscle-derived AC133+ stem cells (2006) (0)
- P3.15 A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cells (2011) (0)
- Volume contents and author index (1989) (0)
- C9ORF72 Hexanucleotide Repeat Expansion in a Cohort of Italian Patients Affected by Amyotrophic Lateral Sclerosis with and without Frontotemporal Dementia (P05.162) (2012) (0)
- Complex IV change in the mitochondria respiratory chain of chronic external ophtalmoplegia : a review of our cases (1985) (0)
- Autologous transplantation of skin-derived stem cells and functional nerve regeneration after a peripheral nerve lesion (2006) (0)
- rs5848 variant influences GRN mRNA levels in patients with Alzheimer's Disease. (2009) (0)
- Chapter III. Research Biobanks in Pediatrics: Ethical, Legal and Social Issues under the Lens of Health Professionals (2014) (0)
- In Vitro and In Vivo Mesenchymal Stem Cells Neurotrophin Production but Limited Neuronal Differentiation. (2005) (0)
- Normal muscle mitochondrial function in Ramsay-Hunt syndrome (1989) (0)
- [The defect in muscular glucose-6-phosphate dehydrogenase]. (1991) (0)
- The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease (2020) (0)
- Causal frontotemporal lobar degeneration mutations: A novel mutation in MAPT associated with non-fluent progressive aphasia phenotype (2011) (0)
- Intrafamilial variable presentation of CMT2, spastic paraparesis and cognitive impairment caused by a novel autosomal dominant MFN2 mutation (2007) (0)
- Faculty Opinions recommendation of Manipulating the metazoan mitochondrial genome with targeted restriction enzymes. (2008) (0)
- MicroRNAs as serum biomarkers in Becker muscular dystrophy (2022) (0)
- New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients (2016) (0)
- Cerebrospinal fluid biomarkers in patients carrying delCACT mutation in exon 8 of Progranulin gene: report of 10 Italian cases (2010) (0)
- A stop codon mutation in the 5’ of the dystrophin gene associated to a Becker muscular dystrophy phenotype (2008) (0)
- The challenge of paediatric acquired demyelinating syndromes (ADS) in pediatric age: A case report description and a flow-chart proposal (2021) (0)
- Ultrastructural and immunohistochemical aspects of haemangioblastomas. (1979) (0)
- Clinical features and disease course of patients with acute ischaemic stroke just before the Italian index case: Was COVID-19 already there? (2021) (0)
- ORL1 rs1050283: association analysis and influence on miRNA 369-3p binding in patients with Alzheimer's disease (2010) (0)
- Clinical and genetic features of a cohort of patients with MFN2-related neuropathy (2022) (0)
- Sodium Levels Predict Disability at Discharge in Guillain-Barré Syndrome: A Retrospective Cohort Study (2021) (0)
- P3-217: Genetic and functional analysis of progranulin gene variants in patients with Alzheimer's disease (2008) (0)
- G.P.16.06 Abundance of circulating progenitors with myo-endothelial potential correlates with a mild phenotype in patients affected by Duchenne muscular dystrophy (2007) (0)
- Reply (2005) (0)
- 3T MR Brain findings in genetically defined hereditary spastic paraplegia (2012) (0)
- Contents, Vol 33, 1993 / Publisher's Note (1993) (0)
- Short report Endocrine involvement inmitochondrial encephalomyopathy withpartial cytochrome coxidase deficiency (1989) (0)
- Gender-specific influence of the chromosome 16 gene cluster on the susceptibility to multiple sclerosis (2007) (0)
- Benzodiazepine receptors in animal models of cerebellar degeneration. (1979) (0)
- mtDNA depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy (2008) (0)
- Spinal Muscular Atrophy Phenotype Is Ameliorated Either By SMN Increase Or Modulation Of Secondary Cell Death Events With RNA Therapy (S56.006) (2014) (0)
- In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay (2014) (0)
- Novel CLCN1 gene mutation associated with myotonia congenita in Italian patients. (2009) (0)
- A novel missense mutation of IGHMBP2 gene in an Italian infant with spinal muscular atrophy with respiratory distress type 1 (2005) (0)
- The Expanding Spectrum of LAMA2 Gene Mutations: From Congenital Muscular Dystrophy 1A to Limb Girdle Muscular Dystrophy 2R (P07.036) (2013) (0)
- Breathing pattern in muscular dystrophies (2009) (0)
- G.P.11.06 Fas siRNA mediated interference reduces motor neuron death in amyotrophic lateral sclerosis mouse model (2007) (0)
- Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy (2013) (0)
- LRRK2 and GBA mutation analysis in a cohort of Italian familial and sporadic PD (2016) (0)
- COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy) (2022) (0)
- P3.5 Oxidative defect in a large cohort of genetically-determined SMA cases (2011) (0)
- P3-025 Oxidative imbalance as potential biological marker for Alzheimer's disease (2004) (0)
- Blood-derived CD133+ stem cells from normal and dystrophic tissues: a comparative study with clinical applications (2005) (0)
- Subject Index Vol. 33, 1993 (1993) (0)
- NOS3 Glu298Asp polymorphism is a risk factor for frontotemporal lobar degeneration (2008) (0)
- Scoliosis and spinal fusion (SF) correlate with spirometry but not with breathing pattern at rest in Duchenne muscular dystrophy (DMD) (2015) (0)
- KIF24 W218L single nucleotide polymorphism is a risk factor for sporadic frontotemporal lobe degeneration (2009) (0)
- CPEO due to mutations in the tRNA for isolucine : two additional Italian cases. (2012) (0)
- Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases (2014) (0)
- Familiar cases of centronuclear myopathy (1978) (0)
- OLR1 and its regulatory miR-369-3p : genetics and expression analysis (2011) (0)
- Atypical anti-neuronal reactivity in neurological disorders : could have another role besides being paraneoplastic? (2005) (0)
- G.P.11.09 Evaluation of optoelectronic plethysmography (OEP) in assessment of respiratory function in patients with type II glycogenosis (adult form) (2008) (0)
- Faculty Opinions recommendation of An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS. (2007) (0)
- Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis (2019) (0)
- P1-444 Low doses of memantine are effective in reducing behavioral symptoms in AD patients (2006) (0)
- A Late Role of ANT-1 Overexpression in the Pathogenesis of FSHD (2008) (0)
- Genetic and functional analysis of progranulin gene variants in Alzheimer's disease (2008) (0)
- PARK2 gene variability in idiopathic Parkinson's disease (2005) (0)
- Steroid therapy and respiratory function in Duchenne muscular dystrophy (2014) (0)
- 391 Heterogeneous tumourogenic ability of human brain tumour derived neurospheres (2010) (0)
- Mutational Analysis of COQ2 in Italian Patients with MSA (P5.249) (2014) (0)
- G.P.12.08 Characterization of muscle-specific expression of miRNAs in Duchenne muscular dystrophy (2007) (0)
- Erratum to “Fate of autologous dermal stem cells transplanted into the spinal cord after traumatic injury (TSCI)” [Neuroscience 125 (2004) 179–189] (2014) (0)
- Transplantation of iPSCs-Derived Neural Stem Cells as Therapeutic Approach for Amyotrophic Lateral Sclerosis (S14.006) (2013) (0)
- Neuromuscular disorders: from genetics to cell therapy. (2007) (0)
- Faculty Opinions recommendation of TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. (2008) (0)
- Recent advances on molecular genetics of neuromuscular diseases (1995) (0)
- Muscle-specific microRNAs (mirnas) in Duchenne Muscular Distrophy (DMD). (2008) (0)
- Correction to: COVID‑19‑associated Guillain‑Barré syndrome in the early pandemic experience in Lombardia (Italy) (2022) (0)
- AAV9-mediated gene therapy in a SMARD1 mouse model (PL1.003) (2015) (0)
- P2-138 Chemokine serum levels in mild cognitive impairment as Alzheimer’s disease early biomarkers (2006) (0)
- Tc-99m labelled myoblasts for biodistribution studies in murine muscular dystrophy (1999) (0)
- Faculty Opinions recommendation of Human iPSC-based modeling of late-onset disease via progerin-induced aging. (2014) (0)
- Transcranial direct current stimulation over the motor-premotor cortex in two patients with Tourette's syndrome (2008) (0)
- Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis (2011) (0)
- Clinical presentation, comorbidities and treatment of GAD antibodies associated stiff person syndrome (2021) (0)
- - 5-5 ’ Azacytidine Enhances Exogenous Gene Expression in Skeletal Muscle (2002) (0)
- Faculty Opinions recommendation of Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. (2008) (0)
- M.P.1.08 A novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment (2007) (0)
- Molecular and clinical characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP) (2006) (0)
- Extensive analysis of human blood group antigen genes suggest non neutral evolution at multiple loci. (2008) (0)
- New abnormalities in the CSF of vitamin B12-deficient patients (2004) (0)
- Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene (2022) (0)
- Spontaneous Hydro(syringo)myelic Cavity in Two Unrelated Patients with Late Onset Pompe Disease: Is This a Fortuitous Association? (2010) (0)
- MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors (2018) (0)
- Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype (2015) (0)
- Environmental variables affect the observed to expected heterozygosity ratio in human populations (2009) (0)
- Outcome measures validation study for mesoangioblasts transplantation in children affected by Duchenne Muscular Dystrophy (2010) (0)
- Faculty Opinions recommendation of Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities. (2010) (0)
- La canalopatia del cloro : diagnosi clinica differenziale (2009) (0)
- Faculty Opinions recommendation of A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. (2011) (0)
- G.P.9.03 Respiratory kinematics in Duchenne muscular dystrophy (2007) (0)
- P3-167 Absence of mutations in TREM-2 coding region in early onset dementia (2006) (0)
- Molecular Approaches for the Treatment of Pompe Disease (2019) (0)
- Chest wall kinematics during supine and seated position (2009) (0)
- Infantile inflammatory myopathy presenting as SMARD 1V (2009) (0)
- Volume Contents, Author and Keyword Index (2006) (0)
- Motor neurons from human spinal muscular atrophy–induced pluripotent stem cells free of vector and transgenic sequences as a model and cell source for transplantation (2011) (0)
- Faculty of 1000 evaluation for Human iPSC-Based Modeling of Late-Onset Disease via Progerin-Induced Aging. (2013) (0)
- Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction (2007) (0)
- Autologous transplantation of bone marrow-derived CD133+ stem cells in facioscapulohumeral dystrophy (2014) (0)
- Validation of the Italian Addenbrooke’s cognitive examination revised (ACE-R) as a screening test (2012) (0)
- Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen disease associated with a new mutation in GBE gene (2006) (0)
- Transient response to immune therapies in post-irradiation lumbosacral radiculoplexopathy (2004) (0)
- Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired (2022) (0)
- Transplantation of neural stem cells derived from engineered ESC lineage (sox2-βgeo/oct4-tk cells) improves the phenotype of a mouse model of Spinal Muscular Atrophy (2009) (0)
- Faculty Opinions recommendation of Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. (2012) (0)
- Morphological modifications of resected sciatic nerve after autologous transplantation of skin-derived stem cells into resorable guides. (2006) (0)
- Progranulin gene mutation scanning in Multiple Sclerosis patiens with cognitive impairment. (2008) (0)
- Neuropsychological profile in mitochondrial encephalomyopathies (1996) (0)
- Transcription factor Sp1 is regulated by hsa-miR-29b in peripheral blood mononuclear cells from patients with Alzheimer’s disease (2012) (0)
- Molecular bases of mitochondrial encephalomyopathy (1994) (0)
- Genotype-phenotype correlations in mitochondrial encephalomyopathies (1997) (0)
- Chromosome 9 and sporadic Frontotemporal Lobar Degeneration: KIF24, but not UBAP1, is a risk factor in Italian population (2010) (0)
- An efficient transfection method for all kind of cultured neural tissue: the biolistic technique (1996) (0)
- Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis (2011) (0)
- D.P.1.08 Morphological pattern of muscle biopsy in a large cohort of FSHD patients (2008) (0)
- Transplantation of neural stem cells derived from murine embryonic stem cells ameliorates spinal muscular atrophy phenotype. (2008) (0)
- Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders (2016) (0)
- A mouse model of facioscapulohumeral muscular dystrophy (2005) (0)
- Selectin gene cluster genetic variation: association study in two independent multiple sclerosis populations. (2008) (0)
- A population genetics study of the Familial Mediterranean Fever gene: evidence of balancing selection supports the heterozygote advantage hypothesis. (2008) (0)
- [Expression of a defect in the respiratory chain in cultured human cells]. (1991) (0)
- Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders (2014) (0)
- A Multidisciplinary Evaluation of Patients with DMD in An Italian Tertiary Care Center. (2020) (0)
- R-Loops in Motor Neuron Diseases (2018) (0)
- Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S genes in patients with muscle channelopathies. (2008) (0)
- Peculiar ultrastructural findings in congenital myopathies due to selenoprotein N1 gene new mutations (2008) (0)
- Intrathecal chemochine levels in cortical lobar degenerations (2005) (0)
- Variants in SNAP25 are targets of natural selection and influence verbal performances in women (2011) (0)
- Oculopharyngeal myopathy with partial cytochrome c oxidase deficiency (1986) (0)
- Hormonal effects on in vivo uptake of 3H-carnitine in rats (1981) (0)
- Cell-dependent kinase inhibitor 2A and 2B genetic variability in patients with Alzheimer’s disease (2011) (0)
- Gene Corrected Spinal Muscular Atrophy-Induced Pluripotent Stem Cells and Motoneuron as a Model and Cell Source for Transplantation (IN8-2.002) (2012) (0)
- FSHD mouse model : morphological characterization (2005) (0)
- T.P.2.15 Treatment of spinal muscular atrophy by transplantation of embryonic (ES) derived neural stem cells (2008) (0)
- Aldehyde dehydrogenase positive neural stem cells generate motor neurons and promote functional recovery in an animal model of Spinal Muscular Atrophy with Respiratory Distress type 1 (2005) (0)
- Forced Expression of MyoD Creates a Muscle-Specific Test System for Exogenous Genes (2007) (0)
- Generation and characterization of iPSC-derived cortical pyramidal neurons from patients affected by multiple system atrophy (2016) (0)
- Faculty Opinions recommendation of Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (2012) (0)
- Oligodendrocyte Lineage Transcription Factor 2 role in Alzheimer's disease: association and expression analysis (2011) (0)
- Redefining clinical phenotype in a large color of Italian non-dystrophic myotonic patients. (2009) (0)
- Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation (2014) (0)
- New twinkle gene mutations in PEO patients with multiple mitochondrial DNA deletions (2006) (0)
- Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art (2019) (0)
- Painful sensory neuropathy and dysimmunity: is there a relation? (2004) (0)
- Decline of ALS-FRS and Norris scale scores in a group of patients affected by ALS and treated with lithium (2009) (0)
- Abundance of circulating progenitors with myo-endothelial potential correlates with a mild phenotype in patients affected by Duchenne muscular dystrophy (2008) (0)
- PATTERNS OF SUBTHALAMIC OSCILLATORY ACTIVITY DURING TRANSITORY CLINICAL IMPROVEMENT AFTER DBS OF THE SUBTHALAMIC NUCLEUS IN PATIENTS WITH PARKINSON’S DISEASE (2005) (0)
- Si-Rna silencing interfers on motor neuron degeneration of SOD1 G93A ALS mouse model (2006) (0)
- Transplanted neural stem cell-derived motor neurons improve SMARD1 disease phenotype (2008) (0)
- Development of a new technique for muscle tissues-stem cells co-colture (2011) (0)
- Muscle mitochondrial oxidative defects in Amyotrophic Lateral Scelosis (2007) (0)
- 2.119 Parkin polymorphisms and environmental exposure: Reduction of Parkinson's disease age of onset (2007) (0)
- Brain MRI Findings and Neuro-Psychiatric Involvement in Paroxysmal Nocturnal Hemoglobinuria (PNH) (2016) (0)
- Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy (2018) (0)
- Natural selection at the brush-border: recent and ancient adaptations to carbohydrate diets in humans and other mammals (2015) (0)
- Association analysis and influence between ORL1 rs1050283 variant and miRNA 369-3p in patients with Alzheimer’s disease. (2010) (0)
- Intramuscular injection of human circulating AC133 positive cells ameliorates the function of scid/mdx dystrophic single muscle fibres (2004) (0)
- Erratum: Skin-derived stem cells transplanted into resorbable guides provides functional nerve regeneration after sciatic nerve resection (GLIA 55 (425-438)) (2007) (0)
- T.P.3.04 Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study (2009) (0)
- T.P.1.12 Breathing pattern in neuromuscular disorders (2008) (0)
- Paroxysmal Nocturnal Hemoglobinuria (Pnh): Brain Mri Ischemic Lesions In Neurologically Asymtomatic Patients (2018) (0)
- Familiar cases of mitochondrial myopathies: Mitochondrial DNA deletions and genetic analysis (1991) (0)
- Increased intrathecal chemokine synthesis in MCI and mild AD patients. Implications in the pathogenesis and relevance for early diagnosis (2005) (0)
- Autologous skin-derived stem cells and platelet-rich plasma as treatment for traumatic spinal cord injury (2014) (0)
- G.P.16.05 Ex vivo expansion of human circulating CD133+ progenitor cells: Promising tool for cell-based therapeutic approaches in muscular dystrophy (2007) (0)
- The role of interleukin‐6 (IL‐6) in the proliferation and differentiation of human neural stem cells (2001) (0)
- Multifocal motor neuropathy with an unusual clinical presentation (2007) (0)
- hnRNP-A1 rs7967622 is a risk factor for sporadic Frontotemporal Lobar degeneration but not for Alzheimer’s disease (2010) (0)
- G.P.8.04 Clinical and genetical variability in a large sample of LGMD Italian patients (2007) (0)
- Progranulin genetic variability is not associated to sporadic amyotrophic lateral sclerosis in Italian patients (2008) (0)
- Myogenic potential of human circulating AC133+ stem cells in murine dystrophic skeletal muscle (2005) (0)
- Myoblast mediated gene transfer by intra-arterial injection in MDX mouse (1996) (0)
- G.P.7.02 Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients (2008) (0)
- A Suspected Case of Cerebral Fat Embolism Triggering a Drug-resistant Status Epilepticus in a HbS/β+-Thalassaemia Patient (2022) (0)
- CHMP5 and BAG1 are protective factors for sporadic Frontotemporal Lobar Degeneration (2010) (0)
- 2004 Lombardia Meeting of the Italian Neurological Society (SIN) and the Italian Society of Hospital Neurosciences (SNO) (2004) (0)
- P4-065 Glu298ASP polymorphism of the E-NOS gene and homocysteine levels in patients with Alzheimer's disease and vascular dementia (2004) (0)
- New Molecular and Ultrastructural Findings in Congenital Myopathies Due to Selenoprotein N1 Gene Mutations (2008) (0)
- Neurocognitive profile in Italian DMD children and gene mutation site (2011) (0)
- Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations (2020) (0)
- G.P.6.13 Myo/endothelial properties of the human blood-derived CD133 subpopulation isolated from normal and dystrophic subjects (2007) (0)
- Focus on transmissible spongiform encephalopathies (2001) (0)
- iPSC-Derived Neural Stem Cells Ameliorate The Phenotype Of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) (S56.007) (2014) (0)
- P4.35 Outcome measures validation study for mesoangioblasts transplantation in children affected by Duchenne muscular dystrophy (2010) (0)
- Effect of brain polarization on the fatigability of the elbow flexor muscles for a sustained submaximal contraction (2006) (0)
- T.P.4.02 Effects of rituximab treatment in two patients affected by dysferlin-deficient muscular dystrophy (2009) (0)
- Induction of glioblastoma regression using skin-derived stem cell (2004) (0)
- Neuroprotection in spinal muscular atrophy (SMA) using neural stem cells as a therapeuthic approach (2011) (0)
- Cancer Stem Cells Recapitulates the Heterogeneity of Glioblastomas (2015) (0)
- Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers (2020) (0)
- NMP03 A novel SETX missense mutation and a BSCL2 variant in a family with distal motor neuronopathy, spasticity, and distal amyotrophy of the lower limbs (2007) (0)
- Intraarterial of Muscle-derived CD34 1 Sca-1 1 Stem Cells Restores Dystrophin in mdx Mice (2001) (0)
- [Evaluation of plasma carnitine levels after orthotopic transplantation of the liver]. (1989) (0)
- G.P.9.06 Infantile inflammatory myopathy presenting as SMARD 1 (2009) (0)
- Contribution of FUS gene to FTLD-ALS spectrum: a genetic study in an Italian color of 484 patients (2010) (0)
- Patients with Spinal Muscular Atrophy Genetic Correction of Human Induced Pluripotent Stem Cells from (2012) (0)
- Mutations in the mitochondrial DNA control region in mitochondrial disorders associated with defects in mtDNA maintenance and aging. “Frontiers in DNA Research (2005) (0)
- P1-221 Association between dementia and cancer (2006) (0)
- Contents Vol. 2, 1983 (1983) (0)
- In vivo biolistic technique in control and mdx dystrophic mice (1996) (0)
- Next Generation Sequencing in the Analysis of an Italian Cohort of Patients Affected by Nemaline Myopathy (P07.035) (2013) (0)
- P4.53 Effect of rituximab in two patients with dysferlin-deficient muscular dystrophy (2011) (0)
- Peptide-conjugated Morpholino Oligomers for treatment of Spinal Muscular Atrophy (2016) (0)
- Clinical and pathological aspects of an Italian patient with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosin-containing protein gene (2007) (0)
- The first identified mutation associated to alternating hemiplegia of childhood (AHC) in a Greek family: Clinical and genetical approach (2008) (0)
- Human neurodegenerative disoriders and mytochondrial function (1992) (0)
- Exploiting Integrated miRNAs Analysis of Patient-derived iPSCs-Motor Neurons to Develop a Molecular Therapy for ALS (P4.430) (2018) (0)
- Role of OLR1 and Its Regulating hsa-miR369-3p in Alzheimer’s Disease: Genetic and Expression Analysis (2011) (0)
- Subject Index Vol. 2, 1983 (1983) (0)
- Faculty Opinions recommendation of Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. (2010) (0)
- Frequency of the chromosome 9 hexanucleotide repeat expansion in Italian patients with frontotemporal lobar degeneration (2012) (0)
- T.P.6.01 Possible role of RTX in the differentiation of pericyte-like cells in Duchenne muscular dystrophy (2009) (0)
- Peripheral nerve involvement in sporadic and familiar mitochondrial myopathies (1993) (0)
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Nereo Bresolin is affiliated with the following schools:
