Filippo Maria Santorelli

Filippo Maria Santorelli's AcademicInfluence.com Rankings

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#3434

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#3902

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#314

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#397

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Filippo Maria Santorelli

Philosophy

#9827

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#13441

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#6785

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#8333

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Philosophy

Filippo Maria Santorelli's Degrees

Doctorate Medicine University of Milan
PhD Neurology University of Milan

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Filippo Maria Santorelli'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

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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