Filippo Maria Santorelli
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Italian neurologist
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Medical Philosophy
Filippo Maria Santorelli's Degrees
- Doctorate Medicine University of Milan
- PhD Neurology University of Milan
Why Is Filippo Maria Santorelli Influential?
(Suggest an Edit or Addition)Filippo Maria Santorelli'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
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum (2007) (302)
- COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. (2007) (302)
- Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms (2014) (289)
- The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome (1993) (244)
- Methylmalonic and propionic aciduria (2006) (221)
- Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. (2002) (221)
- Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation. (2006) (217)
- Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. (2008) (205)
- Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”) (1993) (201)
- Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. (2008) (195)
- Mitochondrial encephalomyopathy with coenzyme Q10 deficiency (1997) (194)
- SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (2007) (182)
- Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). (1996) (175)
- Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. (2012) (171)
- A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. (2003) (165)
- Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. (1997) (162)
- Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation (2013) (158)
- Multiple mitochondria1 DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy (1996) (154)
- Congenital muscular dystrophies with defective glycosylation of dystroglycan (2009) (151)
- Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency (2010) (140)
- DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy (2012) (133)
- Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). (1994) (120)
- Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients (1996) (113)
- The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? (2014) (112)
- Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. (2006) (109)
- Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1 (2011) (109)
- A novel mtDNA point mutation in maternally inherited cardiomyopathy. (1995) (105)
- Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene (2003) (103)
- Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. (1999) (103)
- Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. (2006) (101)
- Functional assays in high‐resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines (2007) (98)
- A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome (1994) (97)
- POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. (2007) (94)
- Familial basilar migraine associated with a new mutation in the ATP1A2 gene (2005) (93)
- Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism (2009) (92)
- BACTERIAL EXPRESSION, RECONSTITUTION, FUNCTIONAL CHARACTERIZATION, AND TISSUE DISTRIBUTION OF TWO HUMAN ISOFORMS* (2003) (90)
- Maternally inherited Leigh syndrome. (1993) (90)
- The Mitochondrial Ornithine Transporter (2003) (86)
- Ataxia with oculomotor apraxia type 2 (2006) (85)
- Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. (2008) (82)
- A novel mutation in SACS gene in a family from southern Italy (2004) (80)
- Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs (2009) (79)
- Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development (2014) (77)
- A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. (1995) (77)
- Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients (2013) (77)
- Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses (1998) (76)
- Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders (2006) (76)
- Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp gene (1997) (75)
- Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. (2013) (75)
- Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type (2004) (75)
- Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum (2004) (74)
- Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish (2016) (74)
- Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities (2009) (74)
- MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples (2014) (72)
- Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts (2003) (71)
- Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. (2004) (70)
- Congenital myopathies: clinical phenotypes and new diagnostic tools (2017) (69)
- Malignant Pancreatic Endocrine Tumor in a Child With Tuberous Sclerosis (2003) (69)
- Family-based association study of 5-HTTLPR, TPH, MAO-A, and DRD4 polymorphisms in mood disorders. (2002) (69)
- Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (69)
- Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism (2011) (68)
- Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration (2017) (68)
- Infantile ascending hereditary spastic paralysis (IAHSP) (2003) (67)
- MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients (2016) (66)
- Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion (2009) (65)
- Prevalence of congenital muscular dystrophy in Italy (2015) (65)
- Maternally inherited deafness associated with a T1095C mutation in the mDNA (2001) (64)
- Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype (2014) (62)
- Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation (1996) (61)
- The mitochondrial A3243G mutation presenting as severe cardiomyopathy. (1997) (61)
- Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients (2016) (61)
- Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series (2013) (59)
- Fatal infantile leukodystrophy (2001) (58)
- Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening (2014) (58)
- Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy (2016) (58)
- CLN8 is an ER cargo receptor that regulates lysosome biogenesis (2018) (58)
- A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design (2011) (58)
- Mutations in MFSD8/CLN7 are a frequent cause of variant‐late infantile neuronal ceroid lipofuscinosis (2009) (57)
- Clinical and molecular findings in patients with giant axonal neuropathy (GAN) (2004) (57)
- Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (2001) (57)
- Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients (2017) (57)
- Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio). (2012) (56)
- Identification of novel WFS1 mutations in Italian children with Wolfram syndrome (2001) (55)
- Identification of novel mutations in the SLC25A15 gene in hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study (2009) (55)
- Pontocerebellar hypoplasia (2010) (55)
- The genetic basis of undiagnosed muscular dystrophies and myopathies (2016) (54)
- Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. (2015) (54)
- Interpreting Genetic Variants in Titin in Patients With Muscle Disorders (2018) (54)
- Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study (2018) (53)
- Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death. (1996) (52)
- Protein glutathionylation in human central nervous system: Potential role in redox regulation of neuronal defense against free radicals (2006) (50)
- Autosomal dominant hereditary spastic paraplegia: DHPLC‐based mutation analysis of SPG4 reveals eleven novel mutations (2005) (50)
- Lipoid proteinosis: case report and review of the literature. (2006) (50)
- SPG3A: An additional family carrying a new atlastin mutation (2002) (50)
- Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1 (2011) (50)
- Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders. (2011) (49)
- Syndromes associated with mitochondrial DNA depletion (2014) (49)
- Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis (2017) (49)
- POMT2 mutation in a patient with ‘MEB-like’ phenotype (2006) (48)
- Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort (2015) (48)
- Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation (1997) (48)
- Expanding the clinical spectrum of POMT1 phenotype (2006) (48)
- Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean (2006) (47)
- A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers (1999) (46)
- Progressive exercise intolerance associated with a new muscle‐restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene (2003) (46)
- New findings in the ataxia of Charlevoix–Saguenay (2012) (45)
- A Novel ATP1A2 Mutation in a Family with FHM Type II (2006) (45)
- The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB Activation (2019) (45)
- Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance. (2017) (45)
- Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (2007) (44)
- Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity (2006) (43)
- Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions (2016) (42)
- A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency (2000) (42)
- Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? (2014) (42)
- White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1 (2009) (41)
- Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy (2013) (41)
- Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. (2009) (40)
- Cortical response to somatosensory stimulation in medication overuse headache patients is influenced by angiotensin converting enzyme (ACE) I/D genetic polymorphism (2012) (40)
- “Bartter-like” phenotype in Kearns–Sayre syndrome (2006) (40)
- Understanding Spreading Depression from Headache to Sudden Unexpected Death (2018) (40)
- Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene (2004) (40)
- Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency (2013) (40)
- Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations (1998) (39)
- The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study (2020) (39)
- POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study (2008) (39)
- Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1 (2006) (39)
- X-linked congenital ataxia: a clinical and genetic study. (2000) (39)
- Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations. (2000) (39)
- The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families (2020) (38)
- The wolframin His611Arg polymorphism influences medication overuse headache (2007) (38)
- Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity (2009) (38)
- POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. (2006) (38)
- The emerging concept of mitochondrial cardiomyopathies. (2001) (38)
- Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (2011) (38)
- Migraine headache: a review of the molecular genetics of a common disorder (2012) (38)
- HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation (2006) (37)
- ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis (2018) (37)
- Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. (2002) (37)
- Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. (2019) (37)
- Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. (2006) (36)
- Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria (2006) (35)
- Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (2011) (35)
- Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) (2016) (35)
- Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation (2002) (35)
- Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency (2012) (35)
- Myoclonus in mitochondrial disorders (2014) (35)
- Multicentre Italian family‐based association study on tyrosine hydroxylase, catechol‐O‐methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders (2003) (35)
- Late onset recessive ataxia with Friedreich's disease phenotype. (1989) (34)
- Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations (2014) (34)
- Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. (2014) (34)
- Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia (2003) (34)
- The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy (2005) (34)
- Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene (2009) (34)
- The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. (1999) (33)
- A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy (2008) (33)
- Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients (2020) (33)
- About the "Pathological" role of the mtDNA T3308C mutationellipsis. (1999) (32)
- Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells (2017) (32)
- A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. (2006) (32)
- TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis (2012) (32)
- Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review (1999) (31)
- Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. (2005) (31)
- The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children (2012) (31)
- CONGENITAL MUSCULAR DYSTROPHY WITH DEFECTIVE α-DYSTROGLYCAN, CEREBELLAR HYPOPLASIA, AND EPILEPSY (2009) (31)
- Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. (2020) (30)
- Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation. (2006) (30)
- Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature (2019) (30)
- Migraine as a complex disease: heterogeneity, comorbidity and genotype-phenotype interactions. (2000) (30)
- An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss (2009) (30)
- Collapsing glomerulopathy associated with inherited mitochondrial injury. (2008) (30)
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. (2020) (30)
- A novel locus for autosomal recessive spastic ataxia on chromosome 17p (2007) (30)
- Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (2013) (30)
- TRPV4 mutations in children with congenital distal spinal muscular atrophy (2012) (29)
- Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI (2017) (29)
- Influence of age, gender, height and education on vibration sense A study by tuning fork in 192 normal subjects (1991) (29)
- Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia (2002) (29)
- Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome (1996) (29)
- EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement (2013) (28)
- Revisiting mitochondrial ocular myopathies: a study from the Italian Network (2017) (28)
- Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid. (1999) (28)
- Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders. (2009) (28)
- Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family (1999) (28)
- A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings (2016) (28)
- Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. (2009) (27)
- Cross-Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles. (2018) (27)
- Maternally‐inherited Leigh syndrome‐related mutations bolster mitochondrial‐mediated apoptosis (2004) (27)
- Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. (2015) (27)
- Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy. (2015) (27)
- Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy (2008) (27)
- Phenotype and natural history of variant late infantile ceroid‐lipofuscinosis 5 (2017) (27)
- Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy (1997) (27)
- A new Italian FHM2 family: Clinical aspects and functional analysis of the disease-associated mutation (2011) (26)
- Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study (2018) (26)
- Human Mitochondrial Transcription Factor A Reduction and Mitochondrial Dysfunction in Hashimoto’s Hypothyroid Myopathy (2002) (26)
- Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene (2013) (26)
- Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases (2008) (26)
- Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family. (2008) (26)
- Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture (2012) (26)
- A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy (2006) (26)
- Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation (2013) (26)
- Social Preference Tests in Zebrafish: A Systematic Review (2021) (25)
- Mitochondrial Myopathy and Respiratory Failure Associated With a New Mutation in the Mitochondrial Transfer Ribonucleic Acid Glutamic Acid Gene (2003) (25)
- Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy (2018) (25)
- Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop (2007) (25)
- Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients (2011) (25)
- Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene. (2005) (25)
- Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease (2014) (24)
- A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H (2010) (24)
- Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families (2016) (24)
- Spinocerebellar ataxia type 48: last but not least (2020) (24)
- Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes. (2006) (24)
- Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions (1998) (24)
- Cyclic Vomiting Syndrome, Migraine, and Epilepsy: A Common Underlying Disorder? (2003) (24)
- Is the ataxia of Charlevoix-Saguenay a developmental disease? (2011) (23)
- Italian recommendations for diagnosis and management of congenital myasthenic syndromes (2018) (23)
- Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. (2017) (23)
- The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine (2016) (23)
- Intermittent‐relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility (2012) (23)
- The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families (1999) (22)
- A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis (2006) (22)
- The Val66Met polymorphism of the BDNF gene influences trigeminal pain-related evoked responses. (2012) (22)
- Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers (2016) (22)
- Respiratory chain defects in hereditary spastic paraplegias (2001) (22)
- Somatic Overgrowth Predisposes to Seizures in Autism Spectrum Disorders (2013) (22)
- Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD (2016) (21)
- Temporal lobe connects regression and macrocephaly to autism spectrum disorders (2015) (21)
- TSEN54 mutation in a child with pontocerebellar hypoplasia type 1 (2011) (21)
- Genotype–phenotype correlations in recessive titinopathies (2020) (21)
- A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. (1998) (21)
- Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene (2008) (21)
- Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation. (2015) (21)
- Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation (2014) (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)
- The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility (2009) (21)
- Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation (2003) (21)
- Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (21)
- A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. (2000) (21)
- Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review (2019) (20)
- Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations (2007) (20)
- Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement (2017) (20)
- Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review (2018) (20)
- Infantile Childhood Onset of Spinocerebellar Ataxia Type 2 (2012) (20)
- Cerebellum and neuropsychiatric disorders: insights from ARSACS (2013) (20)
- HyperCKemia as the Only Sign of McArdle's Disease in a Child (2000) (20)
- Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review. (2014) (20)
- A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly (2020) (20)
- Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features (2018) (20)
- Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy (2019) (20)
- CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis (2018) (20)
- Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease (2018) (20)
- Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. (2000) (20)
- Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient (2006) (20)
- Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family (2016) (19)
- Alpha‐1‐antitrypsin deficiency: from genoma to liver disease. PiZ mouse as model for the development of liver pathology in human (2015) (19)
- Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection. (2003) (19)
- Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report. (2001) (19)
- De novo FTL mutation: A clinical, neuroimaging, and molecular study (2013) (19)
- Involvement of the mitochondrial compartment in human NCL fibroblasts. (2011) (18)
- Cavitating Leukoencephalopathy in a Child Carrying the Mitochondrial A8344G Mutation (2010) (18)
- Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations (2007) (18)
- Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations (2011) (18)
- Primary adrenal insufficiency in a child with a mitochondrial DNA deletion (1998) (18)
- Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 (2016) (18)
- Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease. (2014) (18)
- Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays (2010) (18)
- Muscle MRI in TRPV4-related congenital distal SMA (2012) (18)
- Degenerative and acquired sporadic adult onset ataxia (2019) (18)
- Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2 (2016) (18)
- Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia. (2015) (17)
- Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene (2009) (17)
- The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center. (2019) (17)
- Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism–Epilepsy Phenotype with Macrocephaly (2016) (17)
- Mitochondrial DNA Deletion in a Child With Mitochondrial Encephalomyopathy, Growth Hormone Deficiency, and Hypoparathyroidism (2006) (17)
- Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia (2014) (17)
- [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. (2008) (17)
- Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia (2019) (17)
- CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56 (2018) (17)
- A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype. (2018) (17)
- Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI (2011) (16)
- Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan. (2016) (16)
- Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population (2009) (16)
- Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease (2014) (16)
- Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11. (2010) (16)
- Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation. (2015) (15)
- Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. (2015) (15)
- Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy (2001) (15)
- The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia (2010) (15)
- Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia (2005) (15)
- The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy (2013) (15)
- Treatment of SPG5 with cholesterol-lowering drugs (2015) (15)
- The upstream Variable Number Tandem Repeat polymorphism of the monoamine oxidase type A gene influences trigeminal pain‐related evoked responses (2014) (15)
- Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. (2019) (15)
- Next-generation sequencing approach to hyperCKemia (2019) (15)
- Muscle magnetic resonance imaging and histopathology in ACTA1‐related congenital nemaline myopathy (2014) (15)
- Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3. (2011) (14)
- Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2 (2014) (14)
- TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement (2016) (14)
- Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers (2012) (14)
- Respiratory Complex I in Brain Development and Genetic Disease (2004) (14)
- The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells (2017) (14)
- Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia (2020) (14)
- The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy. (2007) (14)
- Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis. (2006) (14)
- Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation (2001) (14)
- Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System (2019) (14)
- Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome (2002) (14)
- Mitochondrial myopathy mimicking fibromyalgia syndrome (1999) (14)
- Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (2005) (13)
- MtDNA-related idiopathic dilated cardiomyopathy (1999) (13)
- Clinical and molecular studies in two new cases of ARSACS (2019) (13)
- Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome (2018) (13)
- Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. (2020) (13)
- A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling (2000) (13)
- A Novel SUCLA2 Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria (2015) (13)
- Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (2020) (12)
- Abnormal H-Tfam in a patient harboring a single mtDNA deletion. (2000) (12)
- Hereditary spastic paraplegias: one disease for many genes, and still counting. (2013) (12)
- SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing (2017) (12)
- Mitochondrial epilepsy: a cross-sectional nationwide Italian survey (2020) (12)
- Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. (2019) (12)
- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. (2017) (12)
- Retinal Migraine as Unusual Feature of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) (2004) (12)
- A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia (2018) (12)
- Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study (2020) (12)
- Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma (2020) (12)
- Z and Mmalton‐1‐antitrypsin deficiency‐associated hepatocellular carcinoma: a genetic study (2009) (11)
- Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52 (2020) (11)
- New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts (2021) (11)
- Mitochondrial DNA Analysis in Ocular Myopathy (1998) (11)
- Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism (2014) (11)
- Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction (2020) (11)
- Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss (2011) (11)
- Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis (2011) (11)
- Retracted: Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy (2005) (11)
- Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction (2020) (10)
- Infantile Mitochondrial Disorders (2007) (10)
- Current insights into familial spastic paraparesis: new advances in an old disease. (2003) (10)
- A novel mutation in the SACS gene associated with a complicated form of spastic ataxia (2008) (10)
- Muscle pain in mitochondrial diseases: a picture from the Italian network (2019) (10)
- Early-onset optic neuropathy as initial clinical presentation in SPG7 (2014) (10)
- Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation. (2010) (10)
- Heterogeneous presentation in Leigh syndrome (1997) (10)
- Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging (2020) (10)
- Prevalence and phenotype of the c.1529C>T SPG7 variant in adult‐onset cerebellar ataxia in Italy (2018) (10)
- Acitretin‐Responsive Ichthyosis in Chanarin–Dorfman Syndrome with a Novel Mutation in the ABHD5/CGI‐58 Gene (2014) (10)
- Pharmacogenomics of episodic migraine: time has come for a step forward. (2014) (10)
- Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. (2007) (10)
- Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability (2019) (10)
- Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (10)
- Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome (2020) (9)
- Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes (2017) (9)
- Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation (2005) (9)
- Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition (2013) (9)
- Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants (2019) (9)
- Learning disabilities in neuromuscular disorders: a springboard for adult life (2016) (9)
- Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy (2011) (9)
- Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings (2019) (9)
- Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene (2015) (9)
- Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation (2019) (9)
- A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia (2000) (8)
- MPV17: fatal hepatocerebral presentation in a Brazilian infant. (2012) (8)
- Hereditary spastic paraplegia type 11 with a very late onset (2015) (8)
- Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico‐diagnostic characterization and results of serial brain MRI studies (2012) (8)
- Neuromuscular Disorders in Zebrafish: State of the Art and Future Perspectives (2013) (8)
- Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology (2021) (8)
- Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (2021) (8)
- Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid (2021) (8)
- Implication of folate deficiency in CYP2U1 loss of function (2021) (8)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. (2017) (7)
- Mutations in GMPPB Presenting with Pseudometabolic Myopathy. (2018) (7)
- Brain imaging in Kufs disease type B: case reports (2015) (7)
- NGS in Hereditary Ataxia: When Rare Becomes Frequent (2021) (7)
- Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility (2019) (7)
- Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy (2017) (7)
- De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling (2015) (7)
- A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family (2019) (7)
- The mitochondrial ornithine transporter : bacterial expression , recons (2003) (7)
- A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? (2020) (7)
- The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias (2021) (7)
- The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia. (2003) (7)
- Customized multigene panels in epilepsy: the best things come in small packages (2019) (7)
- White matter lesions in spastic paraplegia with mutations in SPG 5 / CYP 7 B 1 (2009) (7)
- Expanding the clinical and genetic heterogeneity of SPAX5 (2020) (7)
- Pharmacogenomics and medication overuse headache: when the cure may turn to poison. (2009) (7)
- The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy (2011) (6)
- Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene (2011) (6)
- Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine (2008) (6)
- Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study (2020) (6)
- Chronic diarrhea associated with the A3243G mtDNA mutation (2000) (6)
- Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant. (2008) (6)
- Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria (1991) (6)
- Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency (2012) (6)
- Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred (2014) (6)
- VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype (2019) (6)
- Complex phenotype in an Italian family with a novel mutation in SPG3A (2010) (6)
- Distal motor neuropathy associated with novel EMILIN1 mutation (2020) (6)
- New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy (2020) (6)
- MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form (2020) (6)
- The mitochondrial ornithine transporter : bacterial expression (2003) (6)
- Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 (2013) (6)
- Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large‐scale mitochondrial DNA deletion (2002) (6)
- Musician’s Dystonia and Comorbid Anxiety: Two Sides of One Coin? (2011) (6)
- Genetic heterogeneity of myoclonus epilepsy with ragged‐red fibers syndrome (1998) (6)
- Novel MTCYB mutation in a young patient with recurrent stroke‐like episodes and status epilepticus (2014) (6)
- Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases (2021) (6)
- De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia (2022) (6)
- A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease (2016) (6)
- The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients (1999) (6)
- Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients (2018) (6)
- Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. (2011) (5)
- Clinical, ultrastructural, and molecular studies in a patient with Kufs disease (2014) (5)
- A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy. (2007) (5)
- Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations (2020) (5)
- Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene. (2018) (5)
- O041. GRIA3 (glutamate receptor, ionotropic, ampa 3) gene polymorphism influences cortical response to somatosensory stimulation in medication-overuse headache (MOH) patients (2015) (5)
- Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy (2018) (5)
- Docosahexaenoic acid in ARSACS: observations in two patients (2020) (5)
- Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH (2021) (5)
- Large deletion mutation of SPAST in a multi‐generation family from Sardinia (2014) (5)
- SPG8 mutations in Italian families: clinical data and literature review (2019) (5)
- Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome (2015) (5)
- Assessment of Sacsin Turnover in Patients With ARSACS (2021) (5)
- Idiopathic pes cavus in adults is not associated with neurophysiological impairment in the lower limbs (2015) (5)
- Trehalose Treatment in Zebrafish Model of Lafora Disease (2022) (5)
- Retinal degeneration. (2009) (5)
- Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. (2021) (5)
- Prenatal exclusion of cleidocranial dysplasia (2003) (5)
- Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients. (1998) (5)
- Elevated Serum Creatine Kinase and Small Cerebellum Prompt Diagnosis of Congenital Muscular Dystrophy due to FKRP Mutations (2014) (5)
- Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation. (2020) (5)
- Hereditary spastic paraplegia: pathology, genetics and therapeutic prospects (2016) (5)
- Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish (2021) (5)
- Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report (2016) (5)
- DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement (2004) (5)
- Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion (2011) (4)
- POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients (2021) (4)
- Oxytocin Receptor Gene Polymorphism in Lactating Dogs (2021) (4)
- NeuroExam: a tool for neurological examination in neuromuscular diseases (2019) (4)
- SCN11A variant as possible pain generator in sensory axonal neuropathy (2019) (4)
- Relapsing-Remitting Course of Cystic Leukoencephalopathy. (2018) (4)
- Ataxia with oculomotor apraxia type 2: not always an easy diagnosis (2015) (4)
- Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy. (2020) (4)
- Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations (2021) (4)
- Expansion of the genetic landscape of ERLIN2‐related disorders (2020) (4)
- Detection of β-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren) (1999) (4)
- Genetics of Headache (2015) (4)
- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans. (2015) (4)
- Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease (2022) (4)
- A Child With Ichthyosis and Liver Failure (2017) (4)
- Of cognition and cerebellum in SCA48 (2020) (4)
- Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1/PPT1 Overexpression in Human Neuronal-Like Cells (2020) (4)
- Clinical and molecular studies in three Portuguese mtDNA T8993G families. (2000) (4)
- High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia (2021) (4)
- Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders (2019) (4)
- Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1 (2014) (4)
- Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia (2013) (4)
- A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 (2021) (3)
- Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review (2021) (3)
- The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study (2021) (3)
- Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience (2021) (3)
- Evaluation of the therapeutic potential of resveratrol-loaded nanostructured lipid carriers on autosomal recessive spastic ataxia of Charlevoix-Saguenay patient-derived fibroblasts (2021) (3)
- Mitochondrial DNA depletion syndromes: an update (2009) (3)
- Neuroimaging patterns in paediatric onset hereditary spastic paraplegias (2021) (3)
- Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome. (2013) (3)
- Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective (2022) (3)
- Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings (2017) (3)
- A Review on the Bioactivity of Cannabinoids on Zebrafish Models: Emphasis on Neurodevelopment (2022) (3)
- Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant (2020) (3)
- STUB1‐Related Ataxias: A Challenging Diagnosis (2020) (3)
- Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells (2016) (3)
- Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein (2020) (3)
- A new paraplegin mutation in a patient with primary progressive multiple sclerosis. (2020) (3)
- Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 (2021) (3)
- Correlation among maternal risk factors, gene methylation and disease severity in females with autism spectrum disorder. (2022) (3)
- Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction (2021) (3)
- Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis (2021) (3)
- Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome (2000) (3)
- A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies (2019) (3)
- PhysioTest: A Dedicated Module to Collect Data from Physiotherapy Assessments in Neuromuscular Diseases (2018) (3)
- Multiple mtDNA deletions: Clinical and molecular correlations (2000) (2)
- OXPHOS and mtDNA alterations in a family with spastic paraparesis. (2000) (2)
- Identification of a de novo mutation in SPG11 (2010) (2)
- Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide. (2014) (2)
- Diagnostic methods and emerging treatments for adult neuronal ceroid lipofuscinoses (Kufs disease) (2017) (2)
- Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry. (2020) (2)
- Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain (2021) (2)
- MRIndex: A tool for evaluating muscle involvement in neuromuscular diseases from MRI images (2019) (2)
- Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission (2021) (2)
- Concentric muscle involvement in POLG-related distal myopathy (2017) (2)
- Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report (2021) (2)
- Identification of a Thyroid Hormone Derivative as a Pleiotropic Agent for the Treatment of Alzheimer’s Disease (2021) (2)
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia (2020) (2)
- Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement (2021) (2)
- Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases (2022) (2)
- Awareness of rare and genetic neurological diseases among italian neurologist. A national survey (2020) (2)
- Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS (2014) (2)
- Intrafamilial “DOA‐plus” phenotype variability related to different OMI/HTRA2 expression (2020) (2)
- Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4 (2014) (2)
- Bi‐allelic variants in MDH2: Expanding the clinical phenotype (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)
- Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study (2022) (2)
- Natural history of KBG syndrome in a large European cohort (2022) (2)
- X-linked adrenoleukodystrophy: Prenatal diagnosis by DHPLC analysis (2005) (2)
- Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene (2021) (2)
- Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. (2002) (1)
- Thévenod life-and-death decisions ? A role for mitochondrial aquaporins in cellular (2006) (1)
- Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (2021) (1)
- Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts. (2022) (1)
- Molecular genotype in migraine (2015) (1)
- Neuronal ceroid lipofuscinoses: many players, and more to come (2009) (1)
- The mitochondrial A3243G mutation in maternally inherited migraine without aura. (1999) (1)
- SACS MUTATIONS IN AUTOSOMAL RECESSIVE SPASTIC ATAXIAS (2006) (1)
- Altered lactate kinetics from exercising muscle in Hereditary Spastic Paraplegia. (2000) (1)
- Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene (2020) (1)
- Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report (2022) (1)
- EEG and Granular Osmiophilic Elements in Early-Onset Alzheimer’s Disease (2011) (1)
- P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies (2013) (1)
- Migraine comorbidity: from genotype to phenotype (2000) (1)
- 6. Glutamate Receptor Ionotropic AMPA 3 (GRIA3) gene polymorphism influences cortical response to somatosensory stimulation in medication-overuse headache patients (2016) (1)
- Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafness (2000) (1)
- Mitochondrial DNA haplogroups influence response to Riboflavin in Migraineurs (2009) (1)
- Adult-onset mitochondrial movement disorders: a national picture from the Italian Network (2021) (1)
- Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports (2020) (1)
- In vitro study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients. (2022) (1)
- SPG3A (2002) (1)
- Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019). (2021) (1)
- Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH (2021) (1)
- Spinocerebellar ataxia type 48: last but not least (2020) (1)
- Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report (2019) (1)
- Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA (2009) (1)
- MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples (2014) (1)
- Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model (2022) (1)
- Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging (2018) (1)
- Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy (2020) (1)
- SPG5-related spastic paraplegia and white matter abnormalities (2009) (1)
- ‘When atlastin meets spastin’ (2014) (1)
- Searching modifier genes in the LHON 14484T > C mtDNA mutation associated with migraine-like disorder (2003) (1)
- AUTOMA: a wearable device to assess the upper limb muscular activity in patients with neuromuscular disorders (2021) (1)
- Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies (2023) (1)
- Be aware of Wolfram syndrome when examining ataxic patients (2016) (1)
- Recovery of methicillin-resistant Staphylococcus aureus (MRSA) from dogs and cats (2005) (1)
- Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. (2023) (0)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the time of next-generation sequencing. (2012) (0)
- G.P.2.02 Genotype–phenotype correlations in congenital muscular dystrophies with defective glycosylation of dystroglycan: A multicentric Italian study (2008) (0)
- Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency (2013) (0)
- Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice. (2023) (0)
- MUTATIONS IN POMT1 AND POMGNT1 IN ITALIAN CHILDREN WITH CMD (2006) (0)
- Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
- Mitochondrial diseases of nuclear origin (2004) (0)
- C09 SCAS genes as disease modifiers in huntington’s disease (2018) (0)
- Clinical and genetic features of a large cohort of Italian SPG4 patients from the D.A.I.S.Y. collaborative network (2021) (0)
- Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? (2013) (0)
- Oral Presentations (2003) (0)
- Neuromuscular Disorders in Zebrafish: State of the Art and Future Perspectives (2013) (0)
- Glial Contributions to Lafora Disease: A Systematic Review (2022) (0)
- Friedreich’s Ataxia Presenting as Isolated Spastic Paraparesis (2014) (0)
- NEFL-RELATED CHARCOT-MARIE TOOTH DISEASE DUE TO P440L MUTATION IN TWO ITALIAN FAMILIES: EXPANDING THE PHENOTYPE AND DEFINING MODULATING FACTORS. (2023) (0)
- Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study (2022) (0)
- Morphologically targeted DNA screening of neuronal ceroid lipofuscinoses CLN5 and CLN6 in Argentina (2008) (0)
- 085 Mutational analysis of CLN2 gene in late infantile ceroidolipofuscinosis (1999) (0)
- G.P.113 Clinical and molecular features of a large cohort of Italian McArdle patients (2015) (0)
- Reply to Dr. Chalmers' letter (2018) (0)
- Chapter 12: CLN8 (2011) (0)
- T.N.5 PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS: DETECTION OF NEW MUTATIONS AND UNUSUAL MODALITY OF TRANSMISSION (2010) (0)
- Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation (2022) (0)
- Biochemical data as important clues for diagnosis of SUCLA2 defects (2013) (0)
- Customized multigene panels in epilepsy: the best things come in small packages (2019) (0)
- Infantile-Onset Pompe Disease: The Care Beyond the Cure. (2015) (0)
- XII CONGRESS OF MEDITERRANEAN SOCIETY OF MYOLOGY Naples, Italy - May 18-20, 2015 Program (Summary) (2015) (0)
- The features of the m.10197G>A mtDNA mutation (2019) (0)
- G.P.306 Late-onset congenital myopathies: Clinical and molecular features (2015) (0)
- A novel SUCLA2 mutation in a Portuguese patient (2013) (0)
- Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease (2016) (0)
- Reversible valproate-induced subacute encephalopathy caused by a mitochondrial DNA variant (2017) (0)
- P.37 Cardiac involvement in a patient with congenital muscular dystrophy related to POMT2 gene mutation (2017) (0)
- Clinical Heterogeneity Associated with the Mitochondrial DNA C3303T Point Mutation ♦ 734 (1998) (0)
- EDITORIAL (2005) (0)
- TRPV4 mutations in children with congenital distal spinal muscular atrophy (2012) (0)
- Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease (2021) (0)
- Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiency (2012) (0)
- TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis (2012) (0)
- Clinical and molecular studies in two new cases of ARSACS (2019) (0)
- Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. (2023) (0)
- S3.16 Molecular and functional characterization of new pathogenic mutations in mitochondrial ornithine and aspartate/glutamate transporters (2008) (0)
- IDENTIFICATION OF THE CRITICAL LOCUS IN A NEW FORM OF LEUCODYSTROPHY WITH PROGRESSIVE ATAXIA, DEAFNESS, AND CARDIOMYOPATHY (2006) (0)
- Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience (2021) (0)
- DUCHENNE MUSCULAR DYSTROPHY - GENETICS P.213The DMD Italian network: reporting 2127 genetic diagnoses of referred dystrophinopathies, reflections and impact on care and personalized therapies (2018) (0)
- A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing (2022) (0)
- M.P.1.04 A novel mtDNA mutation in COIII impairs assembly of cytochrome c oxidase in a MELAS patient (2007) (0)
- Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease (2021) (0)
- XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
- P.1.11 Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy (2013) (0)
- XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
- Heterogeneity in migraine: many genes for many phenotypes? (2001) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- Reply from the authors (2012) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (2023) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- A3243G melas mutation in migraine with aura (MwoA) and in three-generation female migraine without aura (MwoA). (1999) (0)
- Peripheral neuropathy as initial sign of mitochondrial disorder (2004) (0)
- A novel 7-DHCR mutation in a lebanese child with Smith-Lemli-Opitz syndrome (1999) (0)
- Mitochondrial epilepsy: a cross-sectional nationwide Italian survey (2020) (0)
- Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy (2017) (0)
- Leigh syndrome The T9176G mtDNA mutation severely affects ATP production and results in (2007) (0)
- G.P.3.08 Myoclonic epilepsy, cortical dysplasia and mitochondrial complex I deficiency: A case report (2009) (0)
- Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Portuguese Family (2012) (0)
- Oral Communications (1991) (0)
- Pigmentary degenerative maculopathy in a CYP2U1/SPG56 family (2015) (0)
- A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduria (2012) (0)
- Clinical and molecular studies in a patient with atypical Leigh syndrome (1998) (0)
- Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue (2023) (0)
- Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3. (2022) (0)
- P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI (2013) (0)
- Mutations FKRP Dystrophy due to Elevated Serum Creatine Kinase and Small Cerebellum Prompt Diagnosis of Congenital Muscular (2013) (0)
- Novel mutation in the mitochondrial transfer RNACys gene in a child (2013) (0)
- G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies (2014) (0)
- P3.2 Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysis (2011) (0)
- G.P.373 Large screening of patients diagnosed as limb girdle muscular dystrophy or congenital myopathy using Motorplex (2015) (0)
- EM.P.2.12 Walker-Warburg syndrome: LARGE mutation in two sibs. The difficulty of prenatal diagnosis (2009) (0)
- Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis (2022) (0)
- G.P.295 X-linked myotubular myopathy in females (2015) (0)
- Partial Lipodystrophy and LMNA p.R545H Variant (2021) (0)
- 45. Clinical and electrophysiological non-SPG4 spectrum of HSP (2015) (0)
- Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis (2017) (0)
- The role of the neurologist in the diagnostic route of HSP and cerebellar ataxias in the next generation sequencing era: A single center experience (2021) (0)
- Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (0)
- Infantile Childhood Onset of Spinocerebellar Ataxia Type 2 (2011) (0)
- ROS Production, Oxidative Stress, and Cell Death Correlate with the Level of CoQ(10) in Fibroblast Models of CoQ(10) Deficiency (2010) (0)
- Genetics Influences Drug Consumption in Medication Overuse Headache, Not in Migraine: Evidence From Wolframin His611Arg Polymorphism Analysis (2021) (0)
- 263 PATERNAL ISODISOMY FOR CHROMOSOME 2 AS CAUSE OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY (2009) (0)
- Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 48 (2003) (0)
- Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency (2022) (0)
- Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report (2021) (0)
- Combination of Positional Cloning and New Generation Sequencing Identifies 3 Novel Genes in Spastic Paraplegia Involved in Common Metabolic Pathways (P01.205) (2012) (0)
- Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review (2018) (0)
- “Double-trouble” or digenic disorder in complex I deficiency (2012) (0)
- Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4 (2022) (0)
- Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
- LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS AND ITS VARIANTS (2006) (0)
- Long term follow-up in two siblings with Sengers syndrome: Case report (2022) (0)
- A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #328 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/328.pdf (2000) (0)
- PROCEEDINGS OF THE XXI CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY (2021) (0)
- PHENOTYPE-GENOTYPE INTERACTIONS IN MIGRAINE: A COMPLEX DISEASE (2001) (0)
- Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay (2021) (0)
- Clinical heterogeneity in mtDNA 8993T>C point mutation (1994) (0)
- Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind (2016) (0)
- Contents Vol. 46, 2016 (2016) (0)
- M.P.3.02 Pontocerebellar hypoplasia and severe white matter volume reduction in a lethal case of mitochondrial encephalomyopathy (2007) (0)
- Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 (2012) (0)
- Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review (2022) (0)
- JIMD Reports, Volume 37 (2017) (0)
- Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. (2008) (0)
- P.110Clinical, morphological and genetic data in Italian patients with fiber-type-disproportion (2019) (0)
- Impaired neuronal connectivity as dysregulated cellular function in CLN1 disease: A pathogenetic prediction by RNAseq analysis (2017) (0)
- Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (0)
- P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population (2011) (0)
- G.P.320 MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients (2015) (0)
- EM.P.2.05 Congenital muscular dystrophy with defective α-dystroglycan glycosylation, cerebellar hypoplasia and severe epilepsy (2009) (0)
- Characterization of neuronal ceroid lipofuscinosis in Argentina (2007) (0)
- New cellular imaging‐based method to distinguish the SPG4 subtype of hereditary spastic paraplegia (2023) (0)
- Converging Role for REEP1/SPG31 in Oxidative Stress (2023) (0)
- MPV17: fatal hepatocerebral presentation (2013) (0)
- G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity (2009) (0)
- Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders (2022) (0)
- C.P.3.02 Expanding the clinical spectrum of POMT1 and POMT2 phenotype: A multicentric study in the Italian population (2007) (0)
- Early onset progressive ataxia associated with the first CACNAIA mutation identified within the I-II loop. Authors' reply (2007) (0)
- Use of epilepsy gene panels for early diagnosis of epilepsy in children 2-4 years of age: expert considerations on current and future practices in Europe (2018) (0)
- Genetic Basis of the Neurophysiological Findings (2020) (0)
- Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia (2022) (0)
- A novel mtDNA deletion associated with primary adrenal insufficiency.† 594 (1997) (0)
- Exercise lactate anaerobic threshold in hereditary spastic paraplegia. (2000) (0)
- Correction to: The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation (2022) (0)
- Metabolic Ataxias in Adults. (2014) (0)
- CASE REPORT Heterogeneous presentation in Leigh syndrome (1997) (0)
- Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction (2021) (0)
- [Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach]. (1999) (0)
- P-5Search for mutations in the RYR1 gene in Italianpatients with congenital myopathy (2011) (0)
- P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy (2011) (0)
- Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism–Epilepsy Phenotype with Macrocephaly (2015) (0)
- Mitochondrial neuro-gastro-intestinal encephalomyopathy: A case report (2021) (0)
- The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation (2022) (0)
- Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation (2023) (0)
- Of cognition and cerebellum in SCA48 (2020) (0)
- P.349 Myofibrillar myopathies with autophagic vacuoles: Report of a case series (2016) (0)
- Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression (2023) (0)
- Complex III deficiency in a Portuguese family: expanding the clinical phenotype (2013) (0)
- Familial cardiomyopathies associated to mitochondrial dna mutations: report of two families (1997) (0)
- Adult onset cerebellar ataxia due to novel mutations in BRAT1 (2021) (0)
- The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. (2022) (0)
- Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy? (2013) (0)
- Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1". (2017) (0)
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What Schools Are Affiliated With Filippo Maria Santorelli?
Filippo Maria Santorelli is affiliated with the following schools: