Gabriele Siciliano
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Italian neurologist
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Computer Science
Gabriele Siciliano's Degrees
- Masters Artificial Intelligence University of Milan
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(Suggest an Edit or Addition)Gabriele Siciliano's Published Works
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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
- Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease (2011) (1701)
- Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
- Lithium delays progression of amyotrophic lateral sclerosis (2008) (557)
- Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (2012) (547)
- APOE and Alzheimer disease: a major gene with semi-dominant inheritance (2011) (528)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Causative and susceptibility genes for Alzheimer’s disease: a review (2003) (327)
- Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer’s disease (2002) (310)
- Oxidative DNA damage in peripheral leukocytes of mild cognitive impairment and AD patients (2005) (272)
- Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2) (2003) (219)
- Mitochondrial dysfunction, oxidative stress and neurodegeneration. (2006) (209)
- Mutations of FUS gene in sporadic amyotrophic lateral sclerosis (2009) (176)
- Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation (2013) (158)
- Multi‐center assessment of the Total Neuropathy Score for chemotherapy‐induced peripheral neurotoxicity (2006) (153)
- Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. (2005) (147)
- EFNS guidelines on the diagnostic approach to pauci‐ or asymptomatic hyperCKemia (2010) (140)
- Astrocyte–neuron interactions in neurological disorders (2009) (138)
- Effect of SARS-CoV-2 mRNA vaccination in MS patients treated with disease modifying therapies (2021) (136)
- Searching for the role and the most suitable biomarkers of oxidative stress in Alzheimer's disease and in other neurodegenerative diseases (2005) (135)
- A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (2009) (133)
- Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families (2000) (130)
- Coenzyme Q10 in neuromuscular and neurodegenerative disorders. (2010) (129)
- Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years (2012) (122)
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
- Randomized trial on the effects of a combined physical/cognitive training in aged MCI subjects: the Train the Brain study (2017) (120)
- The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? (2014) (112)
- Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. (2012) (109)
- Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. (2003) (108)
- Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? (2004) (106)
- Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (2012) (106)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
- A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score (2010) (103)
- Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene (2003) (103)
- Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations (2011) (101)
- TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations (2009) (100)
- Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study (2008) (96)
- Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. (2004) (95)
- Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database (2018) (95)
- The clinical spectrum of sarcoglycanopathies (1999) (95)
- Genes and the Environment in Neurodegeneration (2006) (94)
- Phenotype modulators in myophosphorylase deficiency (2003) (94)
- A novel mitochondrial tRNAPhe mutation causes MERRF syndrome (2004) (85)
- Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy (2010) (85)
- Pleiotropic effects of spastin on neurite growth depending on expression levels (2009) (83)
- Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. (2005) (82)
- Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy (2013) (79)
- From mild cognitive impairment to dementia: a prevalence study in a district of Tuscany, Italy (2005) (77)
- Targeting mitochondrial dysfunction and neurodegeneration by means of coenzyme Q10 and its analogues. (2011) (75)
- The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis (2017) (75)
- The Role of Mitochondria in Stem Cell Biology (2007) (73)
- Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 (2020) (73)
- Structural and functional evaluation of cortical motor areas in Amyotrophic Lateral Sclerosis (2012) (71)
- Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring (2009) (71)
- Oxidative stress biomarkers in patients with untreated obstructive sleep apnea syndrome. (2012) (70)
- Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F (2013) (70)
- Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (2004) (70)
- Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation (2010) (69)
- Congenital myopathies: clinical phenotypes and new diagnostic tools (2017) (69)
- Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. (1989) (69)
- Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (69)
- Modulation of hydrogen peroxide-induced DNA damage, MAPKs activation and cell death in PC12 by ergothioneine. (2006) (69)
- Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease (2003) (69)
- Clinical features and pathogenesis of Alzheimer's disease: involvement of mitochondria and mitochondrial DNA. (2010) (67)
- Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls. (2012) (65)
- Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study (2016) (64)
- Muscle modifications in Parkinson's disease: myoelectric manifestations. (1996) (63)
- Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis (2014) (63)
- Charcot‐Marie‐Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families (2001) (63)
- Long-term treatment with idebenone and riboflavin in a patient with MELAS (2000) (62)
- Mitochondria, mitochondrial DNA and Alzheimer's disease. What comes first? (2008) (62)
- Repeated courses of granulocyte colony‐stimulating factor in amyotrophic lateral sclerosis: Clinical and biological results from a prospective multicenter study (2011) (61)
- Magnetic susceptibility in the deep layers of the primary motor cortex in Amyotrophic Lateral Sclerosis (2016) (61)
- Detection and quasispecies analysis of hepatitis C virus in the cerebrospinal fluid of infected patients. (1999) (61)
- Genotype-phenotype correlation in Pompe disease, a step forward (2014) (60)
- POLG1-Related and other “Mitochondrial Parkinsonisms”: an Overview (2011) (60)
- The role of vascular factors in late-onset sporadic Alzheimer's disease. Genetic and molecular aspects. (2009) (59)
- Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry (2016) (59)
- Methylation analysis of multiple genes in blood DNA of Alzheimer’s disease and healthy individuals (2015) (58)
- Neuroprotective effects of tetracyclines: molecular targets, animal models and human disease. (2009) (58)
- Mitochondria and Neurodegeneration (2007) (57)
- Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables (2009) (57)
- SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. (2005) (56)
- Low prevalence of TT virus in the cerebrospinal fluid of viremic patients with central nervous system disorders (2001) (56)
- Subcutaneous immunoglobulin in CIDP and MMN: a short-term nationwide study (2014) (56)
- Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis (2007) (56)
- The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. (2010) (55)
- A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates (2014) (55)
- Human dental pulp stem cells protect mouse dopaminergic neurons against MPP+ or rotenone (2011) (55)
- The genetic basis of undiagnosed muscular dystrophies and myopathies (2016) (54)
- Mitochondrial cascade hypothesis of Alzheimer's disease: myth or reality? (2007) (54)
- Decreased Methylation of the Mitochondrial D-Loop Region in Late-Onset Alzheimer's Disease. (2017) (54)
- Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype (2012) (54)
- A Ser326Cys polymorphism in the DNA repair gene hOGG1 is not associated with sporadic Alzheimer's disease (2007) (53)
- SOD1 mutations in amyotrophic lateral sclerosis (2005) (52)
- LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population (2015) (51)
- [Mechanisms of muscular fatigue]. (1991) (50)
- Antimyoclonic effect of levetiracetam in MERRF syndrome (2006) (50)
- Epidemiology of myotonic dystrophy in Italy: re‐apprisal after genetic diagnosis (2001) (50)
- Functional Diagnostics in Mitochondrial Diseases (2007) (49)
- Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease. (2003) (49)
- New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy (2012) (49)
- Prognostic factors in mild dystrophinopathies (1996) (49)
- Mitochondria, Cognitive Impairment, and Alzheimer's Disease (2009) (49)
- Amyotrophic Lateral Sclerosis and Oxidative Stress: A Double-Blind Therapeutic Trial After Curcumin Supplementation. (2018) (48)
- Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1 (2016) (47)
- Dream recall in patients with focal cerebral lesions. (1984) (47)
- Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases (2010) (47)
- Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy (2017) (46)
- Absence of angiogenic genes modification in Italian ALS patients (2008) (45)
- Clinical trials for neuroprotection in ALS. (2010) (44)
- International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy (2017) (44)
- Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions (2008) (44)
- Impaired oxidative metabolism and lipid peroxidation in exercising muscle from ALS patients (2002) (43)
- LMNA-associated myopathies (2014) (43)
- Lack of association between mtDNA haplogroups and Alzheimer’s disease in Tuscany (2007) (43)
- A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes (2016) (42)
- Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies (2000) (42)
- Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia (2013) (42)
- Dream recall after sleep interruption in brain-injured patients. (1985) (41)
- Psychiatric involvement in adult patients with mitochondrial disease (2011) (41)
- CSF phosporylated TAU protein levels correlate with cerebral glucose metabolism assessed with PET in Alzheimer's disease (2008) (41)
- Oxidative stress and APO E polymorphisms in Alzheimer's disease and in mild cognitive impairment (2013) (40)
- α-Synuclein Heterocomplexes with β-Amyloid Are Increased in Red Blood Cells of Parkinson’s Disease Patients and Correlate with Disease Severity (2018) (40)
- Oxidative stress treatment for clinical trials in neurodegenerative diseases. (2011) (40)
- Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy (1996) (40)
- Thalidomide for improving cutaneous and pulmonary sarcoidosis in patients resistant or with contraindications to corticosteroids. (2012) (40)
- Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children (2007) (39)
- Impaired oxidative metabolism in exercising muscle from ALS patients (2001) (39)
- Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiency (2012) (38)
- Mitochondrial DNA sequence variation and neurodegeneration (2008) (38)
- High-Resolution 7T MR Imaging of the Motor Cortex in Amyotrophic Lateral Sclerosis (2016) (38)
- Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis (2007) (38)
- Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker. (2009) (38)
- Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports (2001) (38)
- “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network (2016) (38)
- Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response? (2015) (38)
- CMR-verified interstitial myocardial fibrosis as a marker of subclinical cardiac involvement in LMNA mutation carriers. (2013) (38)
- Low frequency stimulation of the nucleus tegmenti pedunculopontini increases cortical metabolism in Parkinsonian patients (2011) (38)
- Consistent bone marrow-derived cell mobilization following repeated short courses of granulocyte-colony-stimulating factor in patients with amyotrophic lateral sclerosis: results from a multicenter prospective trial. (2010) (37)
- Protein clearing pathways in ALS. (2011) (37)
- Lactate production and catecholamine profile during aerobic exercise in normotensive OSAS patients. (2004) (37)
- Novel sarcoglycan gene mutations in a large cohort of Italian patients (2003) (36)
- Alzheimer's Pathogenesis and Its Link to the Mitochondrion (2015) (36)
- Dysphagia in Amyotrophic Lateral Sclerosis: Relationships between disease progression and Fiberoptic Endoscopic Evaluation of Swallowing. (2017) (36)
- Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients (2004) (36)
- Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases (2012) (36)
- Exploring the clinical association between neurological symptoms and COVID-19 pandemic outbreak: a systematic review of current literature (2020) (35)
- Myoclonus in mitochondrial disorders (2014) (35)
- Coenzyme Q10 and Neurological Diseases. (2009) (35)
- Plasmatic oxidative stress biomarkers in multiple sclerosis: relation with clinical and demographic characteristics. (2015) (35)
- The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne’s thread (2014) (34)
- Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art (2013) (34)
- Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy (2001) (34)
- Study of the porcine dermal collagen repair patch in morpho-functional recovery of the rotator cuff after minimum follow-up of 2.5 years. (2014) (34)
- α-Synuclein Aggregates with β-Amyloid or Tau in Human Red Blood Cells: Correlation with Antioxidant Capability and Physical Exercise in Human Healthy Subjects (2018) (33)
- Operationalizing mild cognitive impairment criteria in small vessel disease: the VMCI-Tuscany Study (2016) (33)
- Drugs and mitochondrial diseases: 40 queries and answers (2012) (32)
- D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings (2010) (32)
- Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients (2020) (32)
- Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes (2012) (32)
- Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study (2015) (32)
- Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy. (2004) (31)
- Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies (2012) (31)
- Mitochondrial DNA-related Disorders (2007) (31)
- Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages (2015) (31)
- DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients (2008) (31)
- The hOGG1 Ser326Cys polymorphism and Huntington's disease. (2010) (31)
- Evidence of increased restless legs syndrome occurrence in chronic and highly disabling migraine. (2012) (30)
- Visual hallucinations in Parkinson's disease are not influenced by polymorphisms of serotonin 5-HT2A receptor and transporter genes (2007) (30)
- Strategies for clinical approach to neurodegeneration in Amyotrophic lateral sclerosis. (2011) (30)
- No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease. (2006) (30)
- The path to biomarker-based diagnostic criteria for the spectrum of neurodegenerative diseases (2020) (30)
- Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia (2002) (29)
- Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature. (2008) (29)
- Vascular factors and mitochondrial dysfunction: a central role in the pathogenesis of Alzheimer's disease. (2012) (29)
- Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation (2008) (28)
- Revisiting mitochondrial ocular myopathies: a study from the Italian Network (2017) (28)
- Robotic gait training improves motor skills and quality of life in hereditary spastic paraplegia. (2015) (28)
- Autoimmune limbic encephalitis related to SARS-CoV-2 infection: Case-report and review of the literature (2021) (28)
- EFNS review on the role of muscle biopsy in the investigation of myalgia (2013) (27)
- Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy (1997) (27)
- DNMT3B promoter polymorphisms and risk of late onset Alzheimer's disease. (2012) (27)
- Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy (2019) (27)
- Cortical silent period in patients with amyotrophic lateral sclerosis (1999) (26)
- May “Mitochondrial Eve” and Mitochondrial Haplogroups Play a Role in Neurodegeneration and Alzheimer's Disease? (2011) (26)
- Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study (2018) (26)
- The relationship of plasma catecholamine and lactate during anaerobic threshold exercise in mitochondrial myopathies (1999) (26)
- MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. (2007) (26)
- Mapping Cortical Degeneration in ALS with Magnetization Transfer Ratio and Voxel-Based Morphometry (2013) (26)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
- Mitochondrial dysfunction and Alzheimer's disease: new developments. (2006) (26)
- Human Mitochondrial Transcription Factor A Reduction and Mitochondrial Dysfunction in Hashimoto’s Hypothyroid Myopathy (2002) (26)
- Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family. (2008) (26)
- Fatigue, sleep–wake pattern, depressive and anxiety symptoms and body-mass index: analysis in a sample of episodic and chronic migraine patients (2016) (25)
- Lack of Association between Nuclear Factor Erythroid-Derived 2-Like 2 Promoter Gene Polymorphisms and Oxidative Stress Biomarkers in Amyotrophic Lateral Sclerosis Patients (2014) (25)
- ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation (2015) (25)
- Detection of anti-ganglioside antibodies in Guillain-Barré syndrome and its variants by the agglutination assay (2002) (25)
- The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis (2020) (25)
- Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany (2014) (24)
- Altered surface myoelectric signals in peripheral vascular disease: Correlations with muscle fiber composition (1998) (24)
- Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy (2005) (24)
- Impact of Coronavirus Disease 2019 Pandemic on Cognition in Parkinson's Disease (2020) (24)
- Evaluation of Corticospinal Tract Impairment in the Brain of Patients With Amyotrophic Lateral Sclerosis by Using Diffusion Tensor Imaging Acquisition Schemes With Different Numbers of Diffusion-Weighting Directions (2010) (24)
- Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes (2018) (23)
- Clock T3111C and Per2 C111G SNPs do not influence circadian rhythmicity in healthy Italian population (2011) (23)
- Current and emerging treatment options in the management of Friedreich ataxia (2010) (23)
- Different Clinical Contexts of Use of Blood Neurofilament Light Chain Protein in the Spectrum of Neurodegenerative Diseases (2020) (23)
- Thyroid hormone levels in the cerebrospinal fluid correlate with disease severity in euthyroid patients with Alzheimer’s disease (2017) (22)
- Epidemiology of dystrophinopathies in North‐West Tuscany: a molecular genetics‐based revisitation (1999) (22)
- Respiratory chain defects in hereditary spastic paraplegias (2001) (22)
- Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (2012) (22)
- Is there a primary role of the mitochondrial genome in Alzheimer’s disease? (2009) (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)
- A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
- Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy (2020) (21)
- Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease (2017) (21)
- A longitudinal study of polysomnographic variables in patients with mild cognitive impairment converting to Alzheimer's disease (2019) (20)
- Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients (2019) (20)
- Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate (2019) (20)
- A non‐syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation (2004) (20)
- Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine (1992) (20)
- Implication of a genetic variant at PICALM in Alzheimer’s disease patients and centenarians. (2011) (20)
- The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial (2021) (20)
- Potential Diagnostic Value of Red Blood Cells α-Synuclein Heteroaggregates in Alzheimer’s Disease (2019) (20)
- The hOGG1 Ser326Cys polymorphism is not associated with sporadic Parkinson's disease (2010) (19)
- Protein misfolding, amyotrophic lateral sclerosis and guanabenz: protocol for a phase II RCT with futility design (ProMISe trial) (2017) (19)
- Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies (2000) (19)
- Oxcarbazepine is effective and safe in the treatment of neuropathic pain: pooled analysis of seven clinical studies (2005) (19)
- Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy (2020) (19)
- Mitochondrial Syndromic Sensorineural Hearing Loss (2007) (18)
- Magnetization Transfer Imaging Demonstrates a Distributed Pattern of Microstructural Changes of the Cerebral Cortex in Amyotrophic Lateral Sclerosis (2011) (18)
- Gastric emptying in myotonic dystrophic patients. (2002) (18)
- Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. (2017) (18)
- Mitochondrial disorders and drugs: what every physician should know (2019) (18)
- Prevalent cardiac involvement in dystrophin Becker type mutation (1994) (18)
- Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis (2010) (18)
- Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction. (2009) (18)
- The role of autophagy: what can be learned from the genetic forms of amyotrophic lateral sclerosis. (2010) (18)
- G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype (2010) (17)
- Metabolic myopathies: functional evaluation by different exercise testing approaches (2011) (17)
- Fluid Candidate Biomarkers for Alzheimer’s Disease: A Precision Medicine Approach (2020) (17)
- Pain threshold and polysynaptic components of the blink reflex in Parkinson's disease. (1989) (17)
- α-Synuclein Aggregated with Tau and β-Amyloid in Human Platelets from Healthy Subjects: Correlation with Physical Exercise (2018) (17)
- No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort (2011) (17)
- CSF sphingomyelin: a new biomarker of demyelination in the diagnosis and management of CIDP and GBS (2020) (17)
- Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature (2009) (17)
- Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy (1995) (17)
- Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies (2016) (17)
- Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy (2020) (16)
- Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) (2020) (16)
- Tetracyclines and Neuromuscular Disorders (2012) (16)
- Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (2006) (16)
- Vascular Function Is Improved After an Environmental Enrichment Program: The Train the Brain–Mind the Vessel Study (2018) (16)
- Peripheral Benzodiazepine Binding Sites in Platelets of Patients Affected by Mitochondrial Diseases and Large Scale Mitochondrial DNA Rearrangements (2002) (16)
- A single center study: Aβ42/p-Tau181 CSF ratio to discriminate AD from FTD in clinical setting (2017) (16)
- Transplanted human adipose tissue-derived stem cells engraft and induce regeneration in mice olfactory neuroepithelium in response to dichlobenil subministration. (2014) (16)
- Novel POLG mutations and variable clinical phenotypes in 13 Italian patients (2017) (16)
- Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia (1996) (16)
- The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study. (2017) (16)
- Cross-talk between pathogenic mechanisms in neurodegeneration: the role of oxidative stress in Amyotrophic Lateral Sclerosis. (2017) (15)
- A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis (2002) (15)
- Methylation analysis of DNA repair genes in Alzheimer’s disease (2017) (15)
- Vaccination recommendations for patients with neuromuscular disease. (2014) (15)
- Evidences of Reduced Antioxidant Activity in Patients With Chronic Migraine and Medication‐Overuse Headache (2015) (15)
- Trigemino-cervical reflex in pathology of the brain stem and of the first cervical cord segments. (1989) (15)
- Oxidative Stress Assessment in Alzheimer’s Disease: A Clinic Setting Study (2018) (15)
- Cx26 gene mutations in idiopathic progressive hearing loss. (2005) (15)
- Next-generation sequencing approach to hyperCKemia (2019) (15)
- Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis (2010) (14)
- Pes cavus and hereditary neuropathies: when a relationship should be suspected (2010) (14)
- Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases. (2014) (14)
- Mitochondrial Syndromes Revisited (2021) (14)
- Muscle metabolic alterations assessed by 31‐phosphorus magnetic resonance spectroscopy in mild becker muscular dystrophy (2011) (14)
- Evoked potentials in the evaluation of patients with mitochondrial myopathy. (1993) (14)
- Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. (2005) (14)
- Mitochondria, oxidative stress and PARP‐1 network: a new target for neuroprotective effects of tetracyclines? (2008) (14)
- Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy (2019) (13)
- The mtDNA A8344G "MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population. (2008) (13)
- Plasma Levels of Oxidative Stress Markers, before and after BoNT/A Treatment, in Chronic Migraine (2019) (13)
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- Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database (2020) (13)
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- Lithium in ALS: from the bench to the bedside (2008) (13)
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- An “inflammatory” mitochondrial myopathy. A case report (2013) (12)
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- Muscle manifestations and CK levels in COVID infection: results of a large cohort of patients inside a Pandemic COVID-19 Area (2020) (12)
- Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis (2020) (12)
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- Exercise-Related Oxidative Stress as Mechanism to Fight Physical Dysfunction in Neuromuscular Disorders (2020) (11)
- Mitochondrial DNA haplogroups may influence Fabry disease phenotype (2016) (11)
- Mitochondrial m.3243A > G mutation and carotid artery dissection (2016) (10)
- Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis (2021) (10)
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- Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database (2020) (10)
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- Muscle pain in mitochondrial diseases: a picture from the Italian network (2019) (10)
- Impact of ApoE Polymorphism and Physical Activity on Plasma Antioxidant Capability and Erythrocyte Membranes (2019) (10)
- Oxidative Stress in Cerebral Small Vessel Disease Dizziness Patients, Basally and After Polyphenol Compound Supplementation (2018) (10)
- Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum γ-glutamyltransferase and disease severity (2005) (9)
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- Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2 (2019) (9)
- Limbic encephalitis associated with thymic cancer: a case report (2001) (9)
- A novel out-of-frame mutation in the neurofilament light chain gene ( NEFL) does not result in Charcot-Marie-Tooth disease type 2E (2005) (9)
- Cardiac involvement in chronic progressive external ophthalmoplegia (2014) (9)
- Apolipoprotein E Polymorphism and Oxidative Stress in Human Peripheral Blood Cells: Can Physical Activity Reactivate the Proteasome System through Epigenetic Mechanisms? (2020) (9)
- A 5-year clinical follow-up study from the Italian National Registry for FSHD (2020) (9)
- Cognitive impairment and McArdle disease: Is there a link? (2011) (9)
- Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients (2000) (9)
- Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging (2018) (9)
- Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial (2021) (9)
- Prolonged epileptic discharges predict seizure recurrence in JME: Insights from prolonged ambulatory EEG (2021) (8)
- Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study (2021) (8)
- Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy (2021) (8)
- Exercise therapy in muscle diseases: open issues and future perspectives (2019) (8)
- Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study (2019) (8)
- Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1 (2020) (8)
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- Lithium delays progression of amyotrophic lateral sclerosis (Proceedings of the National Academy of Sciences of the United States of America (2008) 15, (2052-2057) DOI: 10.1073/pnas.0708022105) (2008) (8)
- Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group (2019) (8)
- CGRP Inhibitors and Oxidative Stress Biomarkers in Resistant Migraine: A Real-Life Study with Erenumab, Fremanezumab, and Galcanezumab (2021) (8)
- Reply to Bedlack et al.: A small pilot study calls for large clinical trials to evaluate the effects of lithium before prescribing the drug for amyotrophic lateral sclerosis (2008) (7)
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- Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics (2000) (7)
- Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment (2012) (7)
- Relation between plasmatic and cerebrospinal fluid oxidative stress biomarkers and intrathecal Ig synthesis in Multiple Sclerosis patients (2015) (7)
- Revealing the Complexity of Mitochondrial DNA-Related Disorders (2018) (7)
- Levetiracetam‐responsive myoclonus in spinocerebellar ataxia type 15 (2013) (7)
- Dopamine Transporter Imaging, Current Status of a Potential Biomarker: A Comprehensive Review (2021) (7)
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- A multi-parametric protocol to study exercise intolerance in McArdle's disease (2015) (7)
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- Clinical and Molecular Characterization of Patients With Limb-Girdle Muscular Dystrophy Type 2 I (2005) (6)
- Obstructive sleep apnea syndrome and Alzheimer’s disease pathology: may continuous positive airway pressure treatment delay cognitive deterioration? (2021) (6)
- EPIDEMIOLOGY OF MYOTONIC DYSTROPHY IN ITALY (2001) (6)
- Therapeutical Management and Drug Safety in Mitochondrial Diseases—Update 2020 (2020) (6)
- Molecular diagnostics and mitochondrial dysfunction: a future perspective (2008) (6)
- Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease (2017) (6)
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- Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach (2019) (5)
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- Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy (1992) (5)
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- Progress regarding the context-of-use of tau as biomarker of Alzheimer’s disease and other neurodegenerative diseases (2021) (5)
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- Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy (2021) (5)
- Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients (2020) (5)
- Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene (2018) (5)
- Cisapride improves gallbladder kinetics in patients affected with myotonic muscular dystrophy. (1993) (5)
- Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions (2020) (5)
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- Fabry Disease With Atypical Neurological Presentation: Report of a Case (2012) (5)
- Ocular myopathy without ophthalmoplegia can be a form of mitochondrial myopathy (1992) (5)
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- Mitochondrial Epilepsy, a Challenge for Neurologists (2022) (4)
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- Fluid Biomarkers in Alzheimer’s Disease and Other Neurodegenerative Disorders: Toward Integrative Diagnostic Frameworks and Tailored Treatments (2022) (4)
- Opportunities and potential applications from healthcare technologies to assist motor activity in metabolic myopathies (2018) (4)
- Response to levetiracetam or lamotrigine in subjects with Juvenile Myoclonic Epilepsy previously treated with valproic acid: A single center retrospective study (2021) (4)
- Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction (2020) (4)
- Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes (2021) (4)
- Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association (1999) (4)
- Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C (2021) (4)
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- Semiautomated Evaluation of the PrimaryMotor Cortex in Patients with Amyotrophic Lateral Sclerosis at 3 T (2017) (4)
- Sarcolemmal excitability in myotonic dystrophy: evaluation by means of muscle conduction velocity (1993) (3)
- Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 (2021) (3)
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- Mitochondrial DNA single deletion in a patient with postural tremor (2008) (3)
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- An updated review on the role of prescribed exercise in the management of Amyotrophic lateral sclerosis (2021) (3)
- Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases (2022) (2)
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- Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double‐blind, placebo‐controlled trial (2022) (2)
- Autoimmune limbic encephalitis related to Sars-CoV-2 infection: Case-report and review of the literature (2021) (2)
- Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients (2020) (2)
- G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism? (2009) (2)
- Impact of environmental factors and physical activity on disability and quality of life in CIDP (2020) (2)
- I-4 Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy (2011) (2)
- Acute encephalopathy of the temporal lobes leading to m.3243A>G. When MELAS is not always MELAS. (2016) (2)
- Distribution Indices of Magnetic Susceptibility Values in the Primary Motor Cortex Enable to Classify Patients with Amyotrophic Lateral Sclerosis (2022) (2)
- Muscle manifestations and CK levels in COVID infection: Results of a large cohort of patients inside a pandemic COVID-19 area (2021) (2)
- Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases (2021) (2)
- G.P.251 The Italian Registry of Limb Girdle Muscular Dystrophy: Natural history, genotype–phenotype correlations and outcome measures (2014) (2)
- α-synuclein as an emerging pathophysiological biomarker of Alzheimer’s disease (2022) (2)
- Ictogenesis of viral pneumonia: A comparison between SARS-CoV-2 and H1N1/H3N2 (2021) (2)
- Efficacy of fingolimod after switching from interferon β-1a in an adolescent with multiple sclerosis: case report (2021) (2)
- Mitochondrial stroke-like episodes: the search for new therapies. (2022) (2)
- P041. Analysis of body mass index, psychiatric comorbidity, sleep-wake pattern and occurrence of fatigue in episodic and chronic migraine patients (2015) (2)
- Oxidative stress modulation in neurodegenerative diseases (2011) (2)
- Bayesian approach to searching for susceptibility genes: Gc2 and EsD1 alleles and multiple sclerosis. (2002) (2)
- Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment (2012) (2)
- Impact of environmental factors and physical activity on disability and quality of life in CIDP (2020) (2)
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- Anti-HMGCR antibodies and asymptomatic hyperCKemia. A case report. (2021) (2)
- The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis (2016) (2)
- Morphometric imaging and quantitative susceptibility mapping as complementary tools in the diagnosis of parkinsonisms (2022) (2)
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- Proximal myotonic myopathy: report on italian families and literature review. (2001) (1)
- Biomarkers and progress of antioxidant therapy for rare mitochondrial disorders (2016) (1)
- CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions (2019) (1)
- Nrf2 Signaling: An Adaptive Response Pathway for Neurodegenerative Disorders (2016) (1)
- Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies (2023) (1)
- Alteration of lactate production during incremental excercise in myotonic dystrophy is not dependent by catecholamine increase (2002) (1)
- An atypical presentation of sporadic adult-onset centronuclear myopathy. (2007) (1)
- The neurophysiological lesson from the Italian CIDP database (2021) (1)
- Primary mitochondrial myopathy (2020) (1)
- Biological determinants of blood‐based cytokines in the Alzheimer's disease clinical continuum (2022) (1)
- Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels (2020) (1)
- [Mitochondrial oculopharyngeal myopathy: description of a case]. (1990) (1)
- Fiberoptic Endoscopic Evaluation of Swallowing as possible index of ALS clinical development (2017) (1)
- E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019 (2021) (1)
- The indistinct borders between psychological motivation, self-esteem, stress response and pain underline this assumption. (2012) (1)
- P.5.17 LMNA-associated myopathies: The Italian Laminopathies Network experience in a large cohort of patients (2013) (1)
- Catatonia as prominent feature of stroke-like episode in MELAS (2020) (1)
- Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort (2022) (1)
- Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients (2021) (1)
- Effects of selenium and vitamin E on muscular strength and blood parameters in Steinert disease (1990) (1)
- Reply to Vanacore and Galeotti: Sequential trials and the use of placebo (2008) (1)
- Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease (2022) (1)
- Are white matters changes in dm1 brain related to anosognosia? (2015) (1)
- Altered lactate kinetics from exercising muscle in Hereditary Spastic Paraplegia. (2000) (1)
- Phenytoin-induced rhabdomyolysis: Timely recognition for safely remission. (2016) (1)
- Common Genetic Conditions of Ischemic Stroke to Keep in Mind. (2014) (1)
- A case of intravascular large B cell lymphoma with brain involvement mimicking Progressive Multifocal Leukoencephalopathy. (2021) (1)
- Diagnostic Approach to Pauci-or Asymptomatic hyperCKemia (2011) (1)
- Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature (2017) (1)
- Myokymic syndrome with impaired muscular relaxation: further evidence of a possible paraneoplastic genesis (1990) (1)
- Quantitative evaluations of systemic and neuromuscular modifications induced by specific training in sedentary subjects (1997) (1)
- A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer's Disease in Italian Caucasians (2014) (1)
- Antimyoclonic effect of Levetiracetam in MERRF syndrome [Efficacia antimioclonica di Levetiracetam nella Sindrome MERRF] (2006) (1)
- Inflammatory myopathy in a patient with postural and kinetik tremor (2011) (1)
- Sleepiness and sleep disturbances in an elderly population (2006) (1)
- Repeated Courses of Bone Marrow-Derived Cell Mobilization Induced by Granulocyte-Colony Stimulating Factor (G-CSF) in Amyotrophic Lateral Sclerosis: Interim Analysis of a Prospective Multicenter Trial. (2007) (1)
- P.371 Prevalence study of muscle channelopathies in Italy (2016) (1)
- Coenzyme Q10 and Neurological Diseases: An Update (2006) (1)
- P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing (2011) (1)
- Prolonged and short epileptiform discharges have an opposite relationship with the sleep–wake cycle in patients with JME: Implications for EEG recording protocols (2021) (1)
- Validation of the total neuropathy score (TNS) to assess the peripheral neurotoxicity of different chemotheraphy schedules (2005) (1)
- Polymorphisms in folate and homocysteine metabolising genes and chromosome damage in young mothers of Down syndrome children and in controls (2007) (1)
- Coverage of the requirements of first and second level stroke unit in Italy (2020) (1)
- G.P.136 Muscle channelopathies: Clinical and genetic features in a large cohort of Italian patients (2014) (1)
- Hypointense line along the posterior rim of the precentral gyrus on FLAIR images in patients with ASL (2006) (1)
- Adult-onset mitochondrial movement disorders: a national picture from the Italian Network (2021) (1)
- R1 responses of the trigeminofacial reflex in lesions extrinsic to the brain stem (1984) (1)
- The” D90A” still an enigma among SOD1 gene mutations. Report of three italian cases. (2005) (1)
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- Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis (2014) (1)
- Motor cortical patterns of upper motor neuron pathology in amyotrophic lateral sclerosis: A 3 T MRI study with iron-sensitive sequences (2022) (1)
- Detecting the vulnerable carotid plaque: the Carotid Artery Multimodality imaging Prognostic study design. (2022) (1)
- Obstructive Sleep Apnoea Syndrome Screening Through Wrist-Worn Smartbands: A Machine-Learning Approach (2022) (1)
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- Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 53 (2003) (0)
- Negative DAT‐SPECT in Old Onset Parkinson's Disease: An Additional Pitfall? (2022) (0)
- Aldosterone and excessive daytime sleepiness in myotonic dystrophy (2008) (0)
- 1099 ERGOREFLEX SENSITIVITY IS ASSOCIATED WITH CARDIAC INVOLVEMENT IN BECKER MUSCULAR DYSTROPHY (2022) (0)
- Magnetic Susceptibility Maps in Amyotrophic Lateral Sclerosis (2014) (0)
- NEWS and VIEWS: mitochondrial encephalomyopathies (2016) (0)
- Epidemiology of facio-scapulo-humeral dystrophy in north-west Tuscany: a molecular genetics-based revisitation. (2001) (0)
- Reply to the letter (2013) (0)
- G.P.3.08 Myoclonic epilepsy, cortical dysplasia and mitochondrial complex I deficiency: A case report (2009) (0)
- Mitochondrial epilepsy: a cross-sectional nationwide Italian survey (2020) (0)
- Sindrome CREST: descrizione di un caso clinico con associata miopatia (1995) (0)
- Influence of Dental Pulp Stem Cells on in vitro differentiation of Neural Stem Cells (2008) (0)
- Can gastric emptying assessment by ultrasound be proposed for myotonic dystrophic patients without dyspeptic symptoms (1997) (0)
- Equine mitochondrial DNA analysis: coxi and coxii. (2000) (0)
- 1163 Contribution of myocardial performance index to assessment of left ventricular function in patients with type-1 myotonic distrophy (2006) (0)
- Changes in the Motor Units bioelectrical features linked to dynamic changes during disease progression in Amyotrophic Lateral Sclerosis (2005) (0)
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- Locus coeruleus assessment by MRI: A comparison of three different approaches (2021) (0)
- Prolonged distal motor latency of median nerve does not improve diagnostic accuracy for CIDP (2021) (0)
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- FSHD EP.164 The assessment of cognitive and psychological status in an adult-onset FSHD sample: a pilot study (2021) (0)
- Sacral nerve stimulation for fecal incontinence in a patient with anti‐phospholipid syndrome–related autonomic neuropathy (2016) (0)
- Response to “Salvage therapy for vagal nerve stimulator infection; Literature review and report of a delayed recurrence” (2021) (0)
- Plasmatic and cerebrospinal fluid oxidative stress markers in multiple sclerosis: acontrolled study with inflammatory polyradiculoneuropathy (2011) (0)
- RLS prevalence and impact on sleep quality in a group of relapsing-remittent multiple sclerosis patients (2022) (0)
- Toxic myopathy induced by industrial minerals oils: Clinical and histopathological features (1986) (0)
- Cardiac magnetic resonance findings in patients with type 1 myotonic dystrophy (2021) (0)
- COX AND MITOCHONDRIAL F1F0-ATPASE (ATP SYNTHASE) ACTIVITIES IN PLATELETS AND BRAIN FROM PATIENTS WITH ALZHEIMER'S DISEASE (2002) (0)
- α-Synuclein heteromers with ß-amyloid and tau decreased in red blood cells of Alzheimer’s disease and Lewy Body dementia patients. (2020) (0)
- A pilot trial of G-CSF in amyotrophic lateral sclerosis (2008) (0)
- Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 7 (2003) (0)
- ROS Curcumin as an ROS Scavenger in Amyotrophic Lateral Sclerosis (2016) (0)
- Thyroid function and oral TRH in amyotrophic lateral sclerosis (1990) (0)
- The clinical spectrum of progressive muscle atrophy in north-west tuscany, Italy (2001) (0)
- G.P.15.08 High genetic variability in European population: The FSHD complex puzzle (2009) (0)
- Mitochondrial encephalomyopathy: In vivo diagnostic technique (2002) (0)
- XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
- Facio-scapulo-humeral muscular dystrophy in North-West Tuscany: a clinically and molecularly based epidemiological study (2000) (0)
- Novel sarcoglycan mutations in a large cohort of italian patients (2003) (0)
- Muscle functional and structural modifications in upper motoneuron lesions and Parkinson disease: EMG analysis (1993) (0)
- Clinical and Electrophysiological Spectrum in a Group of Sporadic Distal Motor Neuropathies (2012) (0)
- G.P.113 Clinical and molecular features of a large cohort of Italian McArdle patients (2015) (0)
- 1180 Integrated Backscatter Analysis detects early systolic functional and structural left ventricular alterations in patients with type-1 myotonic distrophy (2006) (0)
- G.P.373 Large screening of patients diagnosed as limb girdle muscular dystrophy or congenital myopathy using Motorplex (2015) (0)
- Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy (2022) (0)
- P.369 NMR voxel-based morphometry and functional analysis as neural correlates of neuropsychological dysfunction in DM1 (2016) (0)
- Polymorphisms inFolate Metabolising Genes and Micronuclei in Mothers of Down SyndromeChildren. (2007) (0)
- Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey. (2022) (0)
- Painful neuropathy, monoclonal gammopathy and amyloid deposit: response to treatmente in 3 cases. (2002) (0)
- Could Temperamental Features Modulate Participation in Clinical Trials? (2023) (0)
- Two contrasting clinical manifestations of amyotrophic lateral sclerosis (ALS) related to FUS mutations (2021) (0)
- Brain MRI in Monogenic Cerebral Small Vessel Diseases: A Practical Handbook. (2021) (0)
- Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"? (2022) (0)
- Cerebral motor cortex in amyotrophic lateral sclerosis at 7T: morphologic features and clinical correlations (2015) (0)
- G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies (2014) (0)
- Ophthalmopathy in chronic inflammatory demyelinating polyradiculoneuropathy: a case report. (2023) (0)
- Ultrasonograpfic evaluation of gastric emptying is helpful in myotonic dystrophic patients without dyspeptic symptoms. (1996) (0)
- Consumer wrist-worn smartbands and OSAS screening: performance of supervised machine-learning algorithms (2022) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- Murri Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis (2007) (0)
- Detecting the vulnerable carotid plaque: the carotid artery multimodality imaging prognostic study design. (2022) (0)
- Outcome measures characterization in an Italian cohort for CMT patients stratification (2021) (0)
- Comparison of plasmatic interleukins patterns among cognitively unimpaired subjects, patients affected by mild cognitive impairment and subjects with Alzheimer's disease dementia (2021) (0)
- Mitochondrial DNA deletions in Parkinson disease (2000) (0)
- Pathophysiology and Management of Fatigue in Neuromuscular Diseases (2023) (0)
- Sleep modulation in Parkinson’s Disease patients with Deep Brain Stimulation: the role of frequency variations (2022) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) (2023) (0)
- Limb girdle muscular dystrophy type 2a associated with epilepsy: a case report. (2001) (0)
- Advanced MRI techniques in the investigation of patients with Amyotrophic Lateral Sclerosis (ALS) (2009) (0)
- [Fatigue at various muscular lengths in myotonic dystrophy]. (1991) (0)
- A Five-Year Longitudinal Study in Facioscapolohumeral Muscular Dystrophy: Assessment of Variables Influencing Disease Progression (2019) (0)
- ERGOREFLEX OVERACTIVITY: A POTENTIAL CAUSE OF EXERCISE LIMITATION AND DYSAUTONOMIA IN PATIENTS WITH MITOCHONDRIAL MYOPATHY (2016) (0)
- BIOMARKERS OF MUSCLE AND HEART DAMAGE IN PATIENTS WITH MITOCHONDRIAL DISEASE (2016) (0)
- Nitroxidation markers and mitochondrial peripheral benzodiazepine receptors in amyotrophic lateral sclerosis (2004) (0)
- Clinical correlates and outcomes of coronavirus disease in a cohort of myasthenia gravis patients (2021) (0)
- Nitroxidation markers in CSF and Mitochondrial peripheral benzodiazepine receptor in amyotrophic lateral sclerosis. (2004) (0)
- Submaximal exercise lactate as index of muscle function in ocular mitochondrial myopathy (1995) (0)
- Dissecting the Interplay Between Time of Dementia and Cognitive Profiles in Lewy Body Dementias. (2021) (0)
- Mitochondrial peripheral benzodiazepine receptor in amyotrophic lateral sclerosis (2007) (0)
- Proximal myotonic myopathy (2020) (0)
- Muscle fatigue phenomena in steinert disease: Evidence for alterations in sarcolemmal excitability (1993) (0)
- Muscle modifications in Parkinson's disease: histological findings and EMG correlates (1996) (0)
- [Abrupt shift to zolpidem, a new imidazopyridine hypnotic, in insomniac patients previously treated with benzodiazepine hypnotics]. (1993) (0)
- Central and peripheral factors of fatigue in Parkinson's disease (1995) (0)
- Dissecting early steps in the autophagy machinery to understand the molecular basisi of neurodegeneration. (2013) (0)
- Serumgamma-glutamyltransferase fractions inMyotonic Dystrophy type I: Differences with healthy subjects and patients with liver disease (2010) (0)
- Diffusion Tensor Imaging of corticospinal tract in amyotrophic lateral sclerosis (2004) (0)
- Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment (following a Satellite Meeting of XII ICNMD, held in Pisa, July 23–24, 2010) (2012) (0)
- Spontaneous bilateral carotid artery dissection and dermal collagen abnormality (2002) (0)
- Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient. (2022) (0)
- Sleep Disorders in an elderly population and their relationship with cognitive symptoms: an epidemiological survey (2018) (0)
- P-8Preclinical Cardiac Involvement In ProgressiveExternal Ophthalmoplegia (2011) (0)
- P.147 Deflazacort treatment in LMNA-related congenital muscular dystrophy: an ongoing Italian cohort pilot study (2022) (0)
- Case report An "inflammatory" mitochondrial myopathy. A case report (2013) (0)
- Contents, Vol 33, 1993 / Publisher's Note (1993) (0)
- Prolonged distal motor latency of median nerve does not improve diagnostic accuracy for CIDP (2021) (0)
- P.357 The EUROMAC registry for rare glycogen storage diseases: preliminary report (2017) (0)
- Sleep structure in bilateral thalamic stroke: A case report (2000) (0)
- P.120EUROMAC: A European registry for patients with McArdle disease and other very rare muscle glycogenoses (2019) (0)
- The role of magnetic resonance imaging in the diagnostic work-out of myopathies: differential diagnosis between inflammatory myopathies and muscular dystrophies. (2022) (0)
- Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 54 (2003) (0)
- Molecular and clinical characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP) (2006) (0)
- Un caso di multinevrite associata a miosite in corso di sindrome di Churg-Strauss (1994) (0)
- A NOVEL MUTATION OF CONNEXIN-32 GENE IN A CMTX ITALIAN FAMILY (2000) (0)
- Physical exercise and oxidative stress in muscular dystrophies : is there a good balance ? Exercise and oxidative stress in MDs (2017) (0)
- Metabolic muscle adaptation to aerobic training in patients affected by mitochondrial myopathies. (2001) (0)
- The Role of Amyloid-β, Tau, and α-Synuclein Proteins as Putative Blood Biomarkers in Patients with Cerebral Amyloid Angiopathy. (2022) (0)
- Plasmatic oxidative stress biomarkers in multiple sclerosis patients with different clinical course (2014) (0)
- D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy (2008) (0)
- Sensory axonal polyneuropathy in a patient with Systemic capillary leak syndrome (Clarkson disease): a case report. (2015) (0)
- Plasma redox and inflammatory patterns during major depressive episodes: a cross-sectional investigation in elderly patients with mood disorders (2020) (0)
- O-4 The Italian Network for Laminopathies (2011) (0)
- Regional North American Annual Meeting of the World Federation of Neurology – Research Group on Neuroepidemiology, Louisiana State University, New Orleans, La., April 27, 2012 (2012) (0)
- Progranulin genetic variability is not associated to sporadic amyotrophic lateral sclerosis in Italian patients (2008) (0)
- Front & Back Matter (2012) (0)
- Sex differences in red blood cell α ‐synuclein protein and its heteroaggregates with amyloid‐β and tau in early Alzheimer’s disease (2020) (0)
- Reduced total plasma coenzyme Q10 in Steinert’s Disease (2000) (0)
- SOD1 GENE MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE ITALIAN STUDY (2003) (0)
- Kennedy’s disease: a case report. (2000) (0)
- In JME patients, prolonged and short epileptiform discharges have an opposite relationship with the sleep-wake cycle (2021) (0)
- Lamina X of the spinal cord in motor neuron disease (2014) (0)
- Assessment of the integrity of the noradrenergic nucleus locus coeruleus during normal ageing by neuromelanin‐3T MRI (2020) (0)
- Immunoglobulin treatment in myasthenia gravis (1985) (0)
- P252 HIGH BIOAVAILABILITY CURCUMIN AND MOTOR NEURON DEGENERATION: RESULTS OF A PILOT THERAPEUTIC TRIAL IN AMYOTROPHIC LATERAL SCLEROSIS (2016) (0)
- P-9 Construction of a database for a nation-wide Italian collaborative network of mitochondrial diseases (2011) (0)
- Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 8 (2003) (0)
- FUS Mutations in a Large Series of Sporadic and Familial ALS (2010) (0)
- Phenotipic-genotypic study of amyothrophic lateral sclerosis Italian families with the G41S SOD1 gene mutation. (2005) (0)
- Brain metabolic correlates of Locus Coeruleus degeneration in Alzheimer's disease: a multimodal neuroimaging study (2022) (0)
- duplication in CMT 1 A : a study of 78 patients . Non-radioactive detection of 17 p 11 . 2 and (0)
- Organi SBA (2018) (0)
- Short communication Antimyoclonic effect of levetiracetam in MERRF syndrome (2006) (0)
- P301L Tau mutation and non‐Alzheimer dementias in Italy (2003) (0)
- Is hypnotic assessment relevant to neurology? (2022) (0)
- Magnetization Transfer Imaging Of Cortical Motor System In Als Patients At Early Stage of Disease (2010) (0)
- VISUAL ALLUCINATIONS IN PD ARE NOT INFLUENCED BY POLYMPRPHISMS OF SEROTONIN 5-HT2A RECEPTOR AND TRANSPORTER GENES (2007) (0)
- PROCEEDINGS OF THE XXI CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY (2021) (0)
- Longitudinal evaluation of BOLD response in motor cortex and “motor related” cerebral areas of ALS patients (2012) (0)
- Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2022) (0)
- G.P.14.04 Oxidative stress markers are reduced after cysteine donor enriched dietary intake in myotonic dystrophy type I (2007) (0)
- A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report (2022) (0)
- Potential of immunoglobuline treatment in motor neuron diseases associated to blood-brain barrier damage (2021) (0)
- Risk of disease relapse, safety and tolerability of SARS-CoV-2 vaccination in patients with chronic inflammatory neuropathies. (2023) (0)
- Neural stem cells cocultured with dental pulp stem cells preferentially differentiate into glial cells (2007) (0)
- O-3 Clinical features and outcome measures during 1 year enzyme replacement therapy in late onset GSD II patients (2011) (0)
- XII CONGRESS OF MEDITERRANEAN SOCIETY OF MYOLOGY Naples, Italy - May 18-20, 2015 Program (Summary) (2015) (0)
- In vivo assessment of the noradrenergic nucleus locus coeruleus in Alzheimer’s disease and other types of dementia (2020) (0)
- Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies (2022) (0)
- Qualitative evaluation of the Rey-Osterrieth Complex Figure Test in patients with progressive supranuclear palsy. (2022) (0)
- 6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen (2021) (0)
- Exercise-related peroxidation events and possible role of endothelin-1 in mitochondrial myopathies (2004) (0)
- Immunoglobulin therapy in chronic inflammatory demyelinating polyneuropathy: Intravenous versus subcutaneous administration (2021) (0)
- A PHASE I-II MULTICENTRE STUDY ON G-CSF IN AMYOTROPHIC LATERAL SCLEROSIS (STEMALS) (2007) (0)
- P.349 Myofibrillar myopathies with autophagic vacuoles: Report of a case series (2016) (0)
- P.358 Report on nationwide Italian collaborative network for muscle glycogen storage disorders (2017) (0)
- Metabolic and Muscle Adaptation to Aerobic Training in Patients Affected by Chronic Progressive External Ophthalmoplegia (2002) (0)
- Assessment of endogenous DNA oxidative stress in mitochondrial encephalomyopathies. (2002) (0)
- Bilateral hippocampal toxic damage: an “unforgettable” cause of acute global amnesia (2023) (0)
- Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (0)
- H-MTTFA muscle levels in mitochondrial myopathies. (2000) (0)
- G.P.7.02 Multicenter study on occurrence of auditory impairment in facioscapulohumeral muscular dystrophy (2007) (0)
- Effects of lithium administration on oxidative stress markers in amyotrophic lateral sclerosis patients (2009) (0)
- Metabolic and muscle adaptation to aerobic training in CPEO patients. (2000) (0)
- A multicentre trial G-CSF in Amyotrophic Lateral Sclerosis (2007) (0)
- Mitochondrial dysfunction in exercise muscle from ALS patients (2000) (0)
- Reply to P.M. Foye ( Letter ) (2008) (0)
- Modification of muscle fatigue phenomena in motor system lesions (1992) (0)
- Novel LMNA gene mutation in a patient with cardiac and skeletal muscle involvement (2009) (0)
- Reply to: Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment. (2013) (0)
- Occurrence of IgG oligoclonal bands in upper motor neuron disease: just by chance? (2015) (0)
- Mutational Profile in 75 Patients With Anti–Myelin-Associated Glycoprotein Neuropathy (2023) (0)
- Response [NEUROMUSCULAR DISORDERS] (2012) (0)
- P-3 Exercise intolerance in Mc Ardle Disease: functional and metabolic evaluation (2011) (0)
- Cardiac magnetic resonance findings and prognosis in type 1 myotonic dystrophy (2022) (0)
- α-Synuclein Aggregates with β-Amyloid or Tau in Human Red Blood Cells: Correlation with Antioxidant Capability and Physical Exercise in Human Healthy Subjects (2017) (0)
- D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. (2013) (0)
- NSS_A_352335 941..956 (2022) (0)
- Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy (2023) (0)
- Tubular Aggregates Myopathy: case description (2016) (0)
- A mitochondrial tRNAPhe mutation causes MERRF syndrome [Sindrome MERRF associata a mutazione del tRNAPhe] (2005) (0)
- Subject Index Vol. 33, 1993 (1993) (0)
- Early diagnosis and early treatment in LOPD: when asymptomatic patients should be treated (2014) (0)
- Locus coeruleus magnetic resonance imaging correlates with [18F]Fluoro deoxyglucose uptake in Alzheimer’s disease patients (2021) (0)
- Hypoparathyroidism in Mitochondrial Disorders (2015) (0)
- prevalence of dementia in a population-based study (2001) (0)
- Apolipoprotein E genotype and behavioural change in AD (2000) (0)
- Kid-bot, robotized system for the rehabilitation of walking in children with cerebral palsy: Clinical testing (2009) (0)
- Exercise lactate anaerobic threshold in hereditary spastic paraplegia. (2000) (0)
- A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing (2022) (0)
- PLASMATIC AND CEREBROSPINAL FLUID OXIDATIVE STRESS BIOMARKERS IN ACUTE AND CHRONIC POLYRADICULONEUROPATHIES (2011) (0)
- Sarcolemman excitability in myotonic dystrophy: evaluation by means of muscle conduction velocity and EMG power spectrum parameter analysis (1995) (0)
- Oxidative stress in myotonic dystrophy type 1 (2006) (0)
- impaired oxidative metabolism in exercising muscle and its relationship to decreased activity of platelets cox in alzheimer disease (2001) (0)
- Evaluation of acylcarnitines with dicarboxylic acid residues as candidate markers for neurodegenerative syndromes (2013) (0)
- Clinical and laboratory criteria for FSHD diagnosis in view of a national registry for the disease (2007) (0)
- [Usefulness Of electromyographic examination of families of patients affected with hypertrophic sensory-motor neuropathy (Charcot-Marie-Tooth disease). Preliminary results]. (1984) (0)
- Advances in molecular diagnostics for mitochondrial diseases. (2009) (0)
- Results of Idebenone Treatment in Patients with Ocular Mitochondrial Myopathy (1996) (0)
- Potential Diagnostic Value of Red Blood Cells α-Synuclein Heteroaggregates in Alzheimer’s Disease (2019) (0)
- Facio-scapulo-humeral dystrophy in north-west Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study (2001) (0)
- G.P.3.10 Oxidative stress biomarkers are related to disease severity in mitochondrial myopathies, and may be modified by a cysteine donor (2009) (0)
- THEME 2 GENETICS AND GENOMICS GEN-01 A case of an uncommon late onset of ALS associated with an undescribed SOD1 mutation GEN-02 A novel mutation in ZFYVE26 gene (c.195-1G > A) in a young man affected by spastic paraplegia (0)
- New therapeutics to modulate mitochondrial energy metabolism in neurodegenerative disorders (2021) (0)
- Response (2012) (0)
- Lithium protects motor neurons at prolonged time intervals in a single knock out double transgenic mouse model of spinal muscle atrophy (2012) (0)
- Multicenter, non-interventional, double cohort study to assess the safety of alglucosidase alfa and laronidase in real-world home infusion setting (2022) (0)
- Symptomatic C9ORF72 mutation in non-fluent aphasia without neuroimaging signs of cerebral atrophy: A case study (2021) (0)
- Role of the Functional Neuroimaging in the Follow of cortical brain damage in patients with Amyotrophic Lateral Sclerosis (2011) (0)
- Coenzyme Q10 deficiency in myotonic dystrophy: a possible effect of the generational trinucleotide CTG expansion increase? (1999) (0)
- Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both (2016) (0)
- Red blood cell α‐synuclein heteroaggregates can discriminate healthy controls from cognitively impaired subjects of the AD‐LBD spectrum (2020) (0)
- Oxidative stress modulation in neurodegenerative diseases (2011) (0)
- Clinical open‐label study for evaluation of efficacy and tolerability of oxcarbazepine in the treatment of neuropathic pain (2004) (0)
- Subacute Alzheimer’s disease with prominent white matter involvement. Report of a pathologically-confirmed case (2013) (0)
- I-4Long-term follow-up effects on enzymereplacement treatment of adult form of acidmaltase deficiency myopathy (2011) (0)
- ORIGINAL RESEARCH Magnetization Transfer Imaging Demonstrates a Distributed Pattern of Microstructural Changes of the Cerebral Cortex in Amyotrophic Lateral Sclerosis (2011) (0)
- After Twenty Years’ Experience, Should the Structures and Standards of Burns Centres be Reconsidered? (1995) (0)
- Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases (2021) (0)
- COVID-19 AND NEUROMUSCULAR DISEASES EP.23 Telemedicine tools to break down barriers in neuromuscular diseases: Clinical patient management system (CPMS) and telegenetics (2021) (0)
- Techniques for muscle fatigue evaluation in muscular dystrophies (1992) (0)
- P.224 Non-5q spinal muscular atrophy in twin sisters with SPG11/CMT2X associated spatacsin gene mutation (2022) (0)
- [Therapy of myotonia congenita]. (1986) (0)
- Skeletal muscle abnormalities in DCM and HCM: evidence of subclinical type 1 fiber myogenic myopathy (1989) (0)
- The role of tactile pressure input in the habituation phenomenon of the trigemino-facial reflex (1985) (0)
- Unusual concomitant small‐ and large‐fiber neuropathy related to hypereosinophilic syndrome (2021) (0)
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