Gabriele Siciliano

Gabriele Siciliano's AcademicInfluence.com Rankings

Gabriele Siciliano

Computer Science

#9680

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#10157

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Machine Learning

#4304

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#4353

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Artificial Intelligence

#4655

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#4717

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Database

#6644

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#6879

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Computer Science

Gabriele Siciliano's Degrees

Masters Artificial Intelligence University of Milan

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Best Online Master's in Artificial Intelligence 2026

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Gabriele Siciliano'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

Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease (2011) (1701)
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
Lithium delays progression of amyotrophic lateral sclerosis (2008) (557)
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (2012) (547)
APOE and Alzheimer disease: a major gene with semi-dominant inheritance (2011) (528)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
Causative and susceptibility genes for Alzheimer’s disease: a review (2003) (327)
Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer’s disease (2002) (310)
Oxidative DNA damage in peripheral leukocytes of mild cognitive impairment and AD patients (2005) (272)
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2) (2003) (219)
Mitochondrial dysfunction, oxidative stress and neurodegeneration. (2006) (209)
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis (2009) (176)
Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation (2013) (158)
Multi‐center assessment of the Total Neuropathy Score for chemotherapy‐induced peripheral neurotoxicity (2006) (153)
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. (2005) (147)
EFNS guidelines on the diagnostic approach to pauci‐ or asymptomatic hyperCKemia (2010) (140)
Astrocyte–neuron interactions in neurological disorders (2009) (138)
Effect of SARS-CoV-2 mRNA vaccination in MS patients treated with disease modifying therapies (2021) (136)
Searching for the role and the most suitable biomarkers of oxidative stress in Alzheimer's disease and in other neurodegenerative diseases (2005) (135)
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (2009) (133)
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families (2000) (130)
Coenzyme Q10 in neuromuscular and neurodegenerative disorders. (2010) (129)
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years (2012) (122)
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
Randomized trial on the effects of a combined physical/cognitive training in aged MCI subjects: the Train the Brain study (2017) (120)
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? (2014) (112)
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. (2012) (109)
Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. (2003) (108)
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? (2004) (106)
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (2012) (106)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score (2010) (103)
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene (2003) (103)
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations (2011) (101)
TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations (2009) (100)
Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study (2008) (96)
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. (2004) (95)
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database (2018) (95)
The clinical spectrum of sarcoglycanopathies (1999) (95)
Genes and the Environment in Neurodegeneration (2006) (94)
Phenotype modulators in myophosphorylase deficiency (2003) (94)
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome (2004) (85)
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy (2010) (85)
Pleiotropic effects of spastin on neurite growth depending on expression levels (2009) (83)
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. (2005) (82)
Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy (2013) (79)
From mild cognitive impairment to dementia: a prevalence study in a district of Tuscany, Italy (2005) (77)
Targeting mitochondrial dysfunction and neurodegeneration by means of coenzyme Q10 and its analogues. (2011) (75)
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis (2017) (75)
The Role of Mitochondria in Stem Cell Biology (2007) (73)
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 (2020) (73)
Structural and functional evaluation of cortical motor areas in Amyotrophic Lateral Sclerosis (2012) (71)
Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring (2009) (71)
Oxidative stress biomarkers in patients with untreated obstructive sleep apnea syndrome. (2012) (70)
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F (2013) (70)
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (2004) (70)
Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation (2010) (69)
Congenital myopathies: clinical phenotypes and new diagnostic tools (2017) (69)
Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. (1989) (69)
Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (69)
Modulation of hydrogen peroxide-induced DNA damage, MAPKs activation and cell death in PC12 by ergothioneine. (2006) (69)
Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease (2003) (69)
Clinical features and pathogenesis of Alzheimer's disease: involvement of mitochondria and mitochondrial DNA. (2010) (67)
Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls. (2012) (65)
Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study (2016) (64)
Muscle modifications in Parkinson's disease: myoelectric manifestations. (1996) (63)
Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis (2014) (63)
Charcot‐Marie‐Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families (2001) (63)
Long-term treatment with idebenone and riboflavin in a patient with MELAS (2000) (62)
Mitochondria, mitochondrial DNA and Alzheimer's disease. What comes first? (2008) (62)
Repeated courses of granulocyte colony‐stimulating factor in amyotrophic lateral sclerosis: Clinical and biological results from a prospective multicenter study (2011) (61)
Magnetic susceptibility in the deep layers of the primary motor cortex in Amyotrophic Lateral Sclerosis (2016) (61)
Detection and quasispecies analysis of hepatitis C virus in the cerebrospinal fluid of infected patients. (1999) (61)
Genotype-phenotype correlation in Pompe disease, a step forward (2014) (60)
POLG1-Related and other “Mitochondrial Parkinsonisms”: an Overview (2011) (60)
The role of vascular factors in late-onset sporadic Alzheimer's disease. Genetic and molecular aspects. (2009) (59)
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry (2016) (59)
Methylation analysis of multiple genes in blood DNA of Alzheimer’s disease and healthy individuals (2015) (58)
Neuroprotective effects of tetracyclines: molecular targets, animal models and human disease. (2009) (58)
Mitochondria and Neurodegeneration (2007) (57)
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables (2009) (57)
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. (2005) (56)
Low prevalence of TT virus in the cerebrospinal fluid of viremic patients with central nervous system disorders (2001) (56)
Subcutaneous immunoglobulin in CIDP and MMN: a short-term nationwide study (2014) (56)
Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis (2007) (56)
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. (2010) (55)
A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates (2014) (55)
Human dental pulp stem cells protect mouse dopaminergic neurons against MPP+ or rotenone (2011) (55)
The genetic basis of undiagnosed muscular dystrophies and myopathies (2016) (54)
Mitochondrial cascade hypothesis of Alzheimer's disease: myth or reality? (2007) (54)
Decreased Methylation of the Mitochondrial D-Loop Region in Late-Onset Alzheimer's Disease. (2017) (54)
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype (2012) (54)
A Ser326Cys polymorphism in the DNA repair gene hOGG1 is not associated with sporadic Alzheimer's disease (2007) (53)
SOD1 mutations in amyotrophic lateral sclerosis (2005) (52)
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population (2015) (51)
[Mechanisms of muscular fatigue]. (1991) (50)
Antimyoclonic effect of levetiracetam in MERRF syndrome (2006) (50)
Epidemiology of myotonic dystrophy in Italy: re‐apprisal after genetic diagnosis (2001) (50)
Functional Diagnostics in Mitochondrial Diseases (2007) (49)
Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease. (2003) (49)
New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy (2012) (49)
Prognostic factors in mild dystrophinopathies (1996) (49)
Mitochondria, Cognitive Impairment, and Alzheimer's Disease (2009) (49)
Amyotrophic Lateral Sclerosis and Oxidative Stress: A Double-Blind Therapeutic Trial After Curcumin Supplementation. (2018) (48)
Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1 (2016) (47)
Dream recall in patients with focal cerebral lesions. (1984) (47)
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases (2010) (47)
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy (2017) (46)
Absence of angiogenic genes modification in Italian ALS patients (2008) (45)
Clinical trials for neuroprotection in ALS. (2010) (44)
International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy (2017) (44)
Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions (2008) (44)
Impaired oxidative metabolism and lipid peroxidation in exercising muscle from ALS patients (2002) (43)
LMNA-associated myopathies (2014) (43)
Lack of association between mtDNA haplogroups and Alzheimer’s disease in Tuscany (2007) (43)
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes (2016) (42)
Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies (2000) (42)
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia (2013) (42)
Dream recall after sleep interruption in brain-injured patients. (1985) (41)
Psychiatric involvement in adult patients with mitochondrial disease (2011) (41)
CSF phosporylated TAU protein levels correlate with cerebral glucose metabolism assessed with PET in Alzheimer's disease (2008) (41)
Oxidative stress and APO E polymorphisms in Alzheimer's disease and in mild cognitive impairment (2013) (40)
α-Synuclein Heterocomplexes with β-Amyloid Are Increased in Red Blood Cells of Parkinson’s Disease Patients and Correlate with Disease Severity (2018) (40)
Oxidative stress treatment for clinical trials in neurodegenerative diseases. (2011) (40)
Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy (1996) (40)
Thalidomide for improving cutaneous and pulmonary sarcoidosis in patients resistant or with contraindications to corticosteroids. (2012) (40)
Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children (2007) (39)
Impaired oxidative metabolism in exercising muscle from ALS patients (2001) (39)
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiency (2012) (38)
Mitochondrial DNA sequence variation and neurodegeneration (2008) (38)
High-Resolution 7T MR Imaging of the Motor Cortex in Amyotrophic Lateral Sclerosis (2016) (38)
Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis (2007) (38)
Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker. (2009) (38)
Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports (2001) (38)
“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network (2016) (38)
Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response? (2015) (38)
CMR-verified interstitial myocardial fibrosis as a marker of subclinical cardiac involvement in LMNA mutation carriers. (2013) (38)
Low frequency stimulation of the nucleus tegmenti pedunculopontini increases cortical metabolism in Parkinsonian patients (2011) (38)
Consistent bone marrow-derived cell mobilization following repeated short courses of granulocyte-colony-stimulating factor in patients with amyotrophic lateral sclerosis: results from a multicenter prospective trial. (2010) (37)
Protein clearing pathways in ALS. (2011) (37)
Lactate production and catecholamine profile during aerobic exercise in normotensive OSAS patients. (2004) (37)
Novel sarcoglycan gene mutations in a large cohort of Italian patients (2003) (36)
Alzheimer's Pathogenesis and Its Link to the Mitochondrion (2015) (36)
Dysphagia in Amyotrophic Lateral Sclerosis: Relationships between disease progression and Fiberoptic Endoscopic Evaluation of Swallowing. (2017) (36)
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients (2004) (36)
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases (2012) (36)
Exploring the clinical association between neurological symptoms and COVID-19 pandemic outbreak: a systematic review of current literature (2020) (35)
Myoclonus in mitochondrial disorders (2014) (35)
Coenzyme Q10 and Neurological Diseases. (2009) (35)
Plasmatic oxidative stress biomarkers in multiple sclerosis: relation with clinical and demographic characteristics. (2015) (35)
The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne’s thread (2014) (34)
Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art (2013) (34)
Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy (2001) (34)
Study of the porcine dermal collagen repair patch in morpho-functional recovery of the rotator cuff after minimum follow-up of 2.5 years. (2014) (34)
α-Synuclein Aggregates with β-Amyloid or Tau in Human Red Blood Cells: Correlation with Antioxidant Capability and Physical Exercise in Human Healthy Subjects (2018) (33)
Operationalizing mild cognitive impairment criteria in small vessel disease: the VMCI-Tuscany Study (2016) (33)
Drugs and mitochondrial diseases: 40 queries and answers (2012) (32)
D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings (2010) (32)
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients (2020) (32)
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes (2012) (32)
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study (2015) (32)
Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy. (2004) (31)
Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies (2012) (31)
Mitochondrial DNA-related Disorders (2007) (31)
Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages (2015) (31)
DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients (2008) (31)
The hOGG1 Ser326Cys polymorphism and Huntington's disease. (2010) (31)
Evidence of increased restless legs syndrome occurrence in chronic and highly disabling migraine. (2012) (30)
Visual hallucinations in Parkinson's disease are not influenced by polymorphisms of serotonin 5-HT2A receptor and transporter genes (2007) (30)
Strategies for clinical approach to neurodegeneration in Amyotrophic lateral sclerosis. (2011) (30)
No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease. (2006) (30)
The path to biomarker-based diagnostic criteria for the spectrum of neurodegenerative diseases (2020) (30)
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia (2002) (29)
Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature. (2008) (29)
Vascular factors and mitochondrial dysfunction: a central role in the pathogenesis of Alzheimer's disease. (2012) (29)
Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation (2008) (28)
Revisiting mitochondrial ocular myopathies: a study from the Italian Network (2017) (28)
Robotic gait training improves motor skills and quality of life in hereditary spastic paraplegia. (2015) (28)
Autoimmune limbic encephalitis related to SARS-CoV-2 infection: Case-report and review of the literature (2021) (28)
EFNS review on the role of muscle biopsy in the investigation of myalgia (2013) (27)
Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy (1997) (27)
DNMT3B promoter polymorphisms and risk of late onset Alzheimer's disease. (2012) (27)
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy (2019) (27)
Cortical silent period in patients with amyotrophic lateral sclerosis (1999) (26)
May “Mitochondrial Eve” and Mitochondrial Haplogroups Play a Role in Neurodegeneration and Alzheimer's Disease? (2011) (26)
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study (2018) (26)
The relationship of plasma catecholamine and lactate during anaerobic threshold exercise in mitochondrial myopathies (1999) (26)
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. (2007) (26)
Mapping Cortical Degeneration in ALS with Magnetization Transfer Ratio and Voxel-Based Morphometry (2013) (26)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
Mitochondrial dysfunction and Alzheimer's disease: new developments. (2006) (26)
Human Mitochondrial Transcription Factor A Reduction and Mitochondrial Dysfunction in Hashimoto’s Hypothyroid Myopathy (2002) (26)
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family. (2008) (26)
Fatigue, sleep–wake pattern, depressive and anxiety symptoms and body-mass index: analysis in a sample of episodic and chronic migraine patients (2016) (25)
Lack of Association between Nuclear Factor Erythroid-Derived 2-Like 2 Promoter Gene Polymorphisms and Oxidative Stress Biomarkers in Amyotrophic Lateral Sclerosis Patients (2014) (25)
ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation (2015) (25)
Detection of anti-ganglioside antibodies in Guillain-Barré syndrome and its variants by the agglutination assay (2002) (25)
The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis (2020) (25)
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany (2014) (24)
Altered surface myoelectric signals in peripheral vascular disease: Correlations with muscle fiber composition (1998) (24)
Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy (2005) (24)
Impact of Coronavirus Disease 2019 Pandemic on Cognition in Parkinson's Disease (2020) (24)
Evaluation of Corticospinal Tract Impairment in the Brain of Patients With Amyotrophic Lateral Sclerosis by Using Diffusion Tensor Imaging Acquisition Schemes With Different Numbers of Diffusion-Weighting Directions (2010) (24)
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes (2018) (23)
Clock T3111C and Per2 C111G SNPs do not influence circadian rhythmicity in healthy Italian population (2011) (23)
Current and emerging treatment options in the management of Friedreich ataxia (2010) (23)
Different Clinical Contexts of Use of Blood Neurofilament Light Chain Protein in the Spectrum of Neurodegenerative Diseases (2020) (23)
Thyroid hormone levels in the cerebrospinal fluid correlate with disease severity in euthyroid patients with Alzheimer’s disease (2017) (22)
Epidemiology of dystrophinopathies in North‐West Tuscany: a molecular genetics‐based revisitation (1999) (22)
Respiratory chain defects in hereditary spastic paraplegias (2001) (22)
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (2012) (22)
Is there a primary role of the mitochondrial genome in Alzheimer’s disease? (2009) (21)
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase (2020) (21)
A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy (2020) (21)
Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease (2017) (21)
A longitudinal study of polysomnographic variables in patients with mild cognitive impairment converting to Alzheimer's disease (2019) (20)
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients (2019) (20)
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate (2019) (20)
A non‐syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation (2004) (20)
Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine (1992) (20)
Implication of a genetic variant at PICALM in Alzheimer’s disease patients and centenarians. (2011) (20)
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial (2021) (20)
Potential Diagnostic Value of Red Blood Cells α-Synuclein Heteroaggregates in Alzheimer’s Disease (2019) (20)
The hOGG1 Ser326Cys polymorphism is not associated with sporadic Parkinson's disease (2010) (19)
Protein misfolding, amyotrophic lateral sclerosis and guanabenz: protocol for a phase II RCT with futility design (ProMISe trial) (2017) (19)
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies (2000) (19)
Oxcarbazepine is effective and safe in the treatment of neuropathic pain: pooled analysis of seven clinical studies (2005) (19)
Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy (2020) (19)
Mitochondrial Syndromic Sensorineural Hearing Loss (2007) (18)
Magnetization Transfer Imaging Demonstrates a Distributed Pattern of Microstructural Changes of the Cerebral Cortex in Amyotrophic Lateral Sclerosis (2011) (18)
Gastric emptying in myotonic dystrophic patients. (2002) (18)
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. (2017) (18)
Mitochondrial disorders and drugs: what every physician should know (2019) (18)
Prevalent cardiac involvement in dystrophin Becker type mutation (1994) (18)
Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis (2010) (18)
Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction. (2009) (18)
The role of autophagy: what can be learned from the genetic forms of amyotrophic lateral sclerosis. (2010) (18)
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype (2010) (17)
Metabolic myopathies: functional evaluation by different exercise testing approaches (2011) (17)
Fluid Candidate Biomarkers for Alzheimer’s Disease: A Precision Medicine Approach (2020) (17)
Pain threshold and polysynaptic components of the blink reflex in Parkinson's disease. (1989) (17)
α-Synuclein Aggregated with Tau and β-Amyloid in Human Platelets from Healthy Subjects: Correlation with Physical Exercise (2018) (17)
No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort (2011) (17)
CSF sphingomyelin: a new biomarker of demyelination in the diagnosis and management of CIDP and GBS (2020) (17)
Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature (2009) (17)
Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy (1995) (17)
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies (2016) (17)
Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy (2020) (16)
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) (2020) (16)
Tetracyclines and Neuromuscular Disorders (2012) (16)
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (2006) (16)
Vascular Function Is Improved After an Environmental Enrichment Program: The Train the Brain–Mind the Vessel Study (2018) (16)
Peripheral Benzodiazepine Binding Sites in Platelets of Patients Affected by Mitochondrial Diseases and Large Scale Mitochondrial DNA Rearrangements (2002) (16)
A single center study: Aβ42/p-Tau181 CSF ratio to discriminate AD from FTD in clinical setting (2017) (16)
Transplanted human adipose tissue-derived stem cells engraft and induce regeneration in mice olfactory neuroepithelium in response to dichlobenil subministration. (2014) (16)
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients (2017) (16)
Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia (1996) (16)
The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study. (2017) (16)
Cross-talk between pathogenic mechanisms in neurodegeneration: the role of oxidative stress in Amyotrophic Lateral Sclerosis. (2017) (15)
A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis (2002) (15)
Methylation analysis of DNA repair genes in Alzheimer’s disease (2017) (15)
Vaccination recommendations for patients with neuromuscular disease. (2014) (15)
Evidences of Reduced Antioxidant Activity in Patients With Chronic Migraine and Medication‐Overuse Headache (2015) (15)
Trigemino-cervical reflex in pathology of the brain stem and of the first cervical cord segments. (1989) (15)
Oxidative Stress Assessment in Alzheimer’s Disease: A Clinic Setting Study (2018) (15)
Cx26 gene mutations in idiopathic progressive hearing loss. (2005) (15)
Next-generation sequencing approach to hyperCKemia (2019) (15)
Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis (2010) (14)
Pes cavus and hereditary neuropathies: when a relationship should be suspected (2010) (14)
Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases. (2014) (14)
Mitochondrial Syndromes Revisited (2021) (14)
Muscle metabolic alterations assessed by 31‐phosphorus magnetic resonance spectroscopy in mild becker muscular dystrophy (2011) (14)
Evoked potentials in the evaluation of patients with mitochondrial myopathy. (1993) (14)
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. (2005) (14)
Mitochondria, oxidative stress and PARP‐1 network: a new target for neuroprotective effects of tetracyclines? (2008) (14)
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy (2019) (13)
The mtDNA A8344G "MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population. (2008) (13)
Plasma Levels of Oxidative Stress Markers, before and after BoNT/A Treatment, in Chronic Migraine (2019) (13)
Gly482Ser PGC-1α Gene Polymorphism and Exercise-Related Oxidative Stress in Amyotrophic Lateral Sclerosis Patients (2016) (13)
Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database (2020) (13)
A mobile app for patients with Pompe disease and its possible clinical applications (2018) (13)
Lithium in ALS: from the bench to the bedside (2008) (13)
MRI cortical feature of bulbar impairment in patients with amyotrophic lateral sclerosis (2019) (13)
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene (1992) (13)
Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication (2010) (13)
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies (2020) (13)
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. (1994) (13)
Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington’s Disease (2015) (13)
Cardiac magnetic resonance imaging and management of dilated cardiomyopathy in a Duchenne muscular dystrophy manifesting carrier (2009) (13)
An “inflammatory” mitochondrial myopathy. A case report (2013) (12)
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey (2020) (12)
Muscle manifestations and CK levels in COVID infection: results of a large cohort of patients inside a Pandemic COVID-19 Area (2020) (12)
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis (2020) (12)
A personal monitoring architecture to detect muscular fatigue in elderly (2012) (12)
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions (2006) (12)
Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria? (2020) (12)
Abnormal H-Tfam in a patient harboring a single mtDNA deletion. (2000) (12)
Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria? (2020) (12)
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation (2008) (12)
An Ontology-Driven Multisensorial Platform to Enable Unobtrusive Human Monitoring and Independent Living (2009) (12)
Telemedicine for neuromuscular disorders during the COVID-19 outbreak (2020) (12)
Selective techniques of apheresis in polyneuropathy associated with monoclonal gammopathy of undetermined significance (1994) (11)
International retrospective natural history study of LMNA-related congenital muscular dystrophy (2021) (11)
Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype (2008) (11)
Multicenter Study on Sleep and Circadian Alterations as Objective Markers of Mild Cognitive Impairment and Alzheimer's Disease Reveals Sex Differences. (2020) (11)
The role of synaptic biomarkers in the spectrum of neurodegenerative diseases (2020) (11)
Semiautomated Evaluation of the Primary Motor Cortex in Patients with Amyotrophic Lateral Sclerosis at 3T (2018) (11)
Exercise-Related Oxidative Stress as Mechanism to Fight Physical Dysfunction in Neuromuscular Disorders (2020) (11)
Mitochondrial DNA haplogroups may influence Fabry disease phenotype (2016) (11)
Mitochondrial m.3243A > G mutation and carotid artery dissection (2016) (10)
Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis (2021) (10)
Risk factors for CIDP: antecedent events, lifestyle and dietary habits. Data from the Italian CIDP database. (2019) (10)
Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database (2020) (10)
Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study (2012) (10)
Cell to cell spreading of misfolded proteins as a therapeutic target in motor neuron disease. (2014) (10)
Effects of grating spatial orientation on visual evoked potentials and contrast sensitivity in multiple sclerosis (2001) (10)
Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (Molecular Psychiatry (2013) 18 (521) DOI: 10.1038/mp.2012.75)) (2013) (10)
Tetracycline treatment in patients with progressive external ophthalmoplegia (2011) (10)
Muscle pain in mitochondrial diseases: a picture from the Italian network (2019) (10)
Impact of ApoE Polymorphism and Physical Activity on Plasma Antioxidant Capability and Erythrocyte Membranes (2019) (10)
Oxidative Stress in Cerebral Small Vessel Disease Dizziness Patients, Basally and After Polyphenol Compound Supplementation (2018) (10)
Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum γ-glutamyltransferase and disease severity (2005) (9)
Psychosocial impact of sport activity in neuromuscular disorders (2020) (9)
ELECTROPHYSIOLOGICAL EVALUATION OF GENITO-SPHINCTERIC DYSFUNCTION IN MULTIPLE SYSTEM ATROPHY (2003) (9)
Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2 (2019) (9)
Limbic encephalitis associated with thymic cancer: a case report (2001) (9)
A novel out-of-frame mutation in the neurofilament light chain gene ( NEFL) does not result in Charcot-Marie-Tooth disease type 2E (2005) (9)
Cardiac involvement in chronic progressive external ophthalmoplegia (2014) (9)
Apolipoprotein E Polymorphism and Oxidative Stress in Human Peripheral Blood Cells: Can Physical Activity Reactivate the Proteasome System through Epigenetic Mechanisms? (2020) (9)
A 5-year clinical follow-up study from the Italian National Registry for FSHD (2020) (9)
Cognitive impairment and McArdle disease: Is there a link? (2011) (9)
Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients (2000) (9)
Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging (2018) (9)
Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial (2021) (9)
Prolonged epileptic discharges predict seizure recurrence in JME: Insights from prolonged ambulatory EEG (2021) (8)
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study (2021) (8)
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy (2021) (8)
Exercise therapy in muscle diseases: open issues and future perspectives (2019) (8)
Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study (2019) (8)
Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1 (2020) (8)
Arterial intracranial thrombosis as the first manifestation of vaccine-induced immune thrombotic thrombocytopenia (VITT): a case report (2022) (8)
Lithium delays progression of amyotrophic lateral sclerosis (Proceedings of the National Academy of Sciences of the United States of America (2008) 15, (2052-2057) DOI: 10.1073/pnas.0708022105) (2008) (8)
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group (2019) (8)
CGRP Inhibitors and Oxidative Stress Biomarkers in Resistant Migraine: A Real-Life Study with Erenumab, Fremanezumab, and Galcanezumab (2021) (8)
Reply to Bedlack et al.: A small pilot study calls for large clinical trials to evaluate the effects of lithium before prescribing the drug for amyotrophic lateral sclerosis (2008) (7)
PROMM in Italy: Clinical and biomolecular findings (1998) (7)
Plastic Changes in the Spinal Cord in Motor Neuron Disease (2014) (7)
Platelet-rich plasma: the role in neural repair (2015) (7)
A novel mitochondrial tRNAIle point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia (2011) (7)
Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics (2000) (7)
Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment (2012) (7)
Relation between plasmatic and cerebrospinal fluid oxidative stress biomarkers and intrathecal Ig synthesis in Multiple Sclerosis patients (2015) (7)
Revealing the Complexity of Mitochondrial DNA-Related Disorders (2018) (7)
Levetiracetam‐responsive myoclonus in spinocerebellar ataxia type 15 (2013) (7)
Dopamine Transporter Imaging, Current Status of a Potential Biomarker: A Comprehensive Review (2021) (7)
Quality of Life in Adult Patients with Mitochondrial Myopathy (2012) (7)
A wearable pervasive platform for the intelligent monitoring of muscular fatigue (2010) (7)
Progressive sensorineural hearing loss in childhood. (1999) (7)
A multi-parametric protocol to study exercise intolerance in McArdle's disease (2015) (7)
Fatigue Is Increased in Episodic Migraine Without Aura Patients (2013) (7)
The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia. (2003) (7)
Clinical features of mtDNA-related syndromes in adulthood. (2020) (7)
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. (2014) (7)
The empowerment of translational research: lessons from laminopathies (2012) (7)
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link? (2017) (7)
Anti-Ri-associated paraneoplastic cerebellar degeneration. Report of a case and revision of the literature. (2011) (7)
Serum gamma-glutamyltransferase fractions in myotonic dystrophy type I: differences with healthy subjects and patients with liver disease. (2010) (7)
The role of the tactile‐pressure afferents in the habituation phenomenon of trigemino‐facial reflex (1985) (7)
Novel MTCYB mutation in a young patient with recurrent stroke‐like episodes and status epilepticus (2014) (6)
Statins in Parkinson's Disease: Influence on Motor Progression. (2021) (6)
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype? (2006) (6)
Clinical and Molecular Characterization of Patients With Limb-Girdle Muscular Dystrophy Type 2 I (2005) (6)
Obstructive sleep apnea syndrome and Alzheimer’s disease pathology: may continuous positive airway pressure treatment delay cognitive deterioration? (2021) (6)
EPIDEMIOLOGY OF MYOTONIC DYSTROPHY IN ITALY (2001) (6)
Therapeutical Management and Drug Safety in Mitochondrial Diseases—Update 2020 (2020) (6)
Molecular diagnostics and mitochondrial dysfunction: a future perspective (2008) (6)
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease (2017) (6)
Sudden bilateral hearing loss and sporadic mitochondrial DNA deletion (2001) (6)
Physical exercise and oxidative stress in muscular dystrophies: is there a good balance? (2017) (5)
Cardiac magnetic resonance in patients with muscular dystrophies. (2020) (5)
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach (2019) (5)
Oxidative stress biomarkers in Fabry disease: is there a room for them? (2020) (5)
Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy (1992) (5)
Electrophysiological evaluation of congenital myotonia. (1985) (5)
Progress regarding the context-of-use of tau as biomarker of Alzheimer’s disease and other neurodegenerative diseases (2021) (5)
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence (2018) (5)
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy (2021) (5)
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients (2020) (5)
Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene (2018) (5)
Cisapride improves gallbladder kinetics in patients affected with myotonic muscular dystrophy. (1993) (5)
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions (2020) (5)
Dissection and atherosclerosis of carotid arteries in the young: role of the apolipoprotein E polymorphism (2002) (5)
Fabry Disease With Atypical Neurological Presentation: Report of a Case (2012) (5)
Ocular myopathy without ophthalmoplegia can be a form of mitochondrial myopathy (1992) (5)
A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene (2019) (5)
Mitochondrial Epilepsy, a Challenge for Neurologists (2022) (4)
Curcumin as an ROS Scavenger in Amyotrophic Lateral Sclerosis (2016) (4)
Effects of anticholinergic agents on the excitability of the blink reflex in Meige syndrome. (1989) (4)
Supersaturation of VEP in Migraine without Aura Patients Treated with Topiramate: An Anatomo-Functional Biomarker of the Disease (2021) (4)
Looking for an Early Diagnosis in a Late Onset Pompe Disease High Risk Population: A LOPED Study (P3.015) (2014) (4)
Fluid Biomarkers in Alzheimer’s Disease and Other Neurodegenerative Disorders: Toward Integrative Diagnostic Frameworks and Tailored Treatments (2022) (4)
Opportunities and potential applications from healthcare technologies to assist motor activity in metabolic myopathies (2018) (4)
Response to levetiracetam or lamotrigine in subjects with Juvenile Myoclonic Epilepsy previously treated with valproic acid: A single center retrospective study (2021) (4)
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction (2020) (4)
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes (2021) (4)
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association (1999) (4)
Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C (2021) (4)
Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis? (2009) (4)
Myocardial damage in a mitochondrial myopathy patient with increased ergoreceptor sensitivity and sympatho-vagal imbalance. (2014) (4)
Post-therapy normalization of brain FDG-PET in Morvan's syndrome (2015) (4)
Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy (2016) (4)
Inferior rectus myositis: a rare cause of painful ophthalmoplegia and a therapeutic challenge (2013) (4)
α-Synuclein Heteromers in Red Blood Cells of Alzheimer's Disease and Lewy Body Dementia Patients. (2021) (4)
Semiautomated Evaluation of the PrimaryMotor Cortex in Patients with Amyotrophic Lateral Sclerosis at 3 T (2017) (4)
Sarcolemmal excitability in myotonic dystrophy: evaluation by means of muscle conduction velocity (1993) (3)
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 (2021) (3)
A case of pelvic floor myoclonic jerk syndrome (1996) (3)
Increase in Mitochondrial D-Loop Region Methylation Levels in Mild Cognitive Impairment Individuals (2022) (3)
Amyotrophic Lateral Sclerosis: A Genetic Point of View. (2014) (3)
Ultrasensitive techniques and protein misfolding amplification assays for biomarker-guided reconceptualization of Alzheimer’s and other neurodegenerative diseases (2021) (3)
A new truncating MPZ mutation associated with a very mild CMT1 B phenotype (2010) (3)
Chronic inflammatory demyelinating polyradiculoneuropathy with cranial nerves hypertrophy, thyroid-related orbitopathy and IgG monoclonal gammopathy: a case report (2015) (3)
Cardiac magnetic resonance in patients with muscular dystrophies. (2020) (3)
Epidemiology of progressive muscular dystrophy in north-western Tuscany. (1984) (3)
Inclusion body myopathy associated with motor neuron syndrome: three case reports. (2005) (3)
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy (2021) (3)
Myotonia levior: contribution to the nosography. (1988) (3)
Diagnosis and therapy of myophosphorylase deficiency: experience with a group of italian patients (1996) (3)
Mitochondrial DNA single deletion in a patient with postural tremor (2008) (3)
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population (2021) (3)
An updated review on the role of prescribed exercise in the management of Amyotrophic lateral sclerosis (2021) (3)
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases (2022) (2)
A Chernobyl lesson for aerial monitoring: integration of passive measurements with active sampling in the emergency early phase (2006) (2)
Mitochondrial DNA (mtDNA) haplotypes and dysfunctions in presbyacusis (2014) (2)
[Changes in muscular excitability and contractility caused by fatigue in Steinert's disease]. (1990) (2)
Functional magnetic resonance imaging with encoding task in patients with mild cognitive impairment and different severity of leukoaraiosis (2018) (2)
Magnetic resonance imaging Locus Coeruleus abnormality in amnestic Mild Cognitive Impairment is associated with future progression to dementia (2022) (2)
Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double‐blind, placebo‐controlled trial (2022) (2)
Autoimmune limbic encephalitis related to Sars-CoV-2 infection: Case-report and review of the literature (2021) (2)
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients (2020) (2)
G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism? (2009) (2)
Impact of environmental factors and physical activity on disability and quality of life in CIDP (2020) (2)
I-4 Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy (2011) (2)
Acute encephalopathy of the temporal lobes leading to m.3243A>G. When MELAS is not always MELAS. (2016) (2)
Distribution Indices of Magnetic Susceptibility Values in the Primary Motor Cortex Enable to Classify Patients with Amyotrophic Lateral Sclerosis (2022) (2)
Muscle manifestations and CK levels in COVID infection: Results of a large cohort of patients inside a pandemic COVID-19 area (2021) (2)
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases (2021) (2)
G.P.251 The Italian Registry of Limb Girdle Muscular Dystrophy: Natural history, genotype–phenotype correlations and outcome measures (2014) (2)
α-synuclein as an emerging pathophysiological biomarker of Alzheimer’s disease (2022) (2)
Ictogenesis of viral pneumonia: A comparison between SARS-CoV-2 and H1N1/H3N2 (2021) (2)
Efficacy of fingolimod after switching from interferon β-1a in an adolescent with multiple sclerosis: case report (2021) (2)
Mitochondrial stroke-like episodes: the search for new therapies. (2022) (2)
P041. Analysis of body mass index, psychiatric comorbidity, sleep-wake pattern and occurrence of fatigue in episodic and chronic migraine patients (2015) (2)
Oxidative stress modulation in neurodegenerative diseases (2011) (2)
Bayesian approach to searching for susceptibility genes: Gc2 and EsD1 alleles and multiple sclerosis. (2002) (2)
Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment (2012) (2)
Impact of environmental factors and physical activity on disability and quality of life in CIDP (2020) (2)
Corrigendum to “Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both” [Neuromuscular Disorders 26/8 (2016) 549] (2017) (2)
Anti-HMGCR antibodies and asymptomatic hyperCKemia. A case report. (2021) (2)
The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis (2016) (2)
Morphometric imaging and quantitative susceptibility mapping as complementary tools in the diagnosis of parkinsonisms (2022) (2)
Editorial (2012) (1)
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity (2022) (1)
Proximal myotonic myopathy: report on italian families and literature review. (2001) (1)
Biomarkers and progress of antioxidant therapy for rare mitochondrial disorders (2016) (1)
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions (2019) (1)
Nrf2 Signaling: An Adaptive Response Pathway for Neurodegenerative Disorders (2016) (1)
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies (2023) (1)
Alteration of lactate production during incremental excercise in myotonic dystrophy is not dependent by catecholamine increase (2002) (1)
An atypical presentation of sporadic adult-onset centronuclear myopathy. (2007) (1)
The neurophysiological lesson from the Italian CIDP database (2021) (1)
Primary mitochondrial myopathy (2020) (1)
Biological determinants of blood‐based cytokines in the Alzheimer's disease clinical continuum (2022) (1)
Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels (2020) (1)
[Mitochondrial oculopharyngeal myopathy: description of a case]. (1990) (1)
Fiberoptic Endoscopic Evaluation of Swallowing as possible index of ALS clinical development (2017) (1)
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019 (2021) (1)
The indistinct borders between psychological motivation, self-esteem, stress response and pain underline this assumption. (2012) (1)
P.5.17 LMNA-associated myopathies: The Italian Laminopathies Network experience in a large cohort of patients (2013) (1)
Catatonia as prominent feature of stroke-like episode in MELAS (2020) (1)
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort (2022) (1)
Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients (2021) (1)
Effects of selenium and vitamin E on muscular strength and blood parameters in Steinert disease (1990) (1)
Reply to Vanacore and Galeotti: Sequential trials and the use of placebo (2008) (1)
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease (2022) (1)
Are white matters changes in dm1 brain related to anosognosia? (2015) (1)
Altered lactate kinetics from exercising muscle in Hereditary Spastic Paraplegia. (2000) (1)
Phenytoin-induced rhabdomyolysis: Timely recognition for safely remission. (2016) (1)
Common Genetic Conditions of Ischemic Stroke to Keep in Mind. (2014) (1)
A case of intravascular large B cell lymphoma with brain involvement mimicking Progressive Multifocal Leukoencephalopathy. (2021) (1)
Diagnostic Approach to Pauci-or Asymptomatic hyperCKemia (2011) (1)
Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature (2017) (1)
Myokymic syndrome with impaired muscular relaxation: further evidence of a possible paraneoplastic genesis (1990) (1)
Quantitative evaluations of systemic and neuromuscular modifications induced by specific training in sedentary subjects (1997) (1)
A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer's Disease in Italian Caucasians (2014) (1)
Antimyoclonic effect of Levetiracetam in MERRF syndrome [Efficacia antimioclonica di Levetiracetam nella Sindrome MERRF] (2006) (1)
Inflammatory myopathy in a patient with postural and kinetik tremor (2011) (1)
Sleepiness and sleep disturbances in an elderly population (2006) (1)
Repeated Courses of Bone Marrow-Derived Cell Mobilization Induced by Granulocyte-Colony Stimulating Factor (G-CSF) in Amyotrophic Lateral Sclerosis: Interim Analysis of a Prospective Multicenter Trial. (2007) (1)
P.371 Prevalence study of muscle channelopathies in Italy (2016) (1)
Coenzyme Q10 and Neurological Diseases: An Update (2006) (1)
P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing (2011) (1)
Prolonged and short epileptiform discharges have an opposite relationship with the sleep–wake cycle in patients with JME: Implications for EEG recording protocols (2021) (1)
Validation of the total neuropathy score (TNS) to assess the peripheral neurotoxicity of different chemotheraphy schedules (2005) (1)
Polymorphisms in folate and homocysteine metabolising genes and chromosome damage in young mothers of Down syndrome children and in controls (2007) (1)
Coverage of the requirements of first and second level stroke unit in Italy (2020) (1)
G.P.136 Muscle channelopathies: Clinical and genetic features in a large cohort of Italian patients (2014) (1)
Hypointense line along the posterior rim of the precentral gyrus on FLAIR images in patients with ASL (2006) (1)
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network (2021) (1)
R1 responses of the trigeminofacial reflex in lesions extrinsic to the brain stem (1984) (1)
The” D90A” still an enigma among SOD1 gene mutations. Report of three italian cases. (2005) (1)
The Role of Mitochondria in StemCell Biology (2009) (1)
Duchenne Muscular Dystrophy Gene therapy. (2022) (1)
Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis (2014) (1)
Motor cortical patterns of upper motor neuron pathology in amyotrophic lateral sclerosis: A 3 T MRI study with iron-sensitive sequences (2022) (1)
Detecting the vulnerable carotid plaque: the Carotid Artery Multimodality imaging Prognostic study design. (2022) (1)
Obstructive Sleep Apnoea Syndrome Screening Through Wrist-Worn Smartbands: A Machine-Learning Approach (2022) (1)
P.267 Clinical variability in myotonic dystrophy type 1: a five-categories disease classification fits clinical but not brain complexity (2017) (0)
Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 53 (2003) (0)
Negative DAT‐SPECT in Old Onset Parkinson's Disease: An Additional Pitfall? (2022) (0)
Aldosterone and excessive daytime sleepiness in myotonic dystrophy (2008) (0)
1099 ERGOREFLEX SENSITIVITY IS ASSOCIATED WITH CARDIAC INVOLVEMENT IN BECKER MUSCULAR DYSTROPHY (2022) (0)
Magnetic Susceptibility Maps in Amyotrophic Lateral Sclerosis (2014) (0)
NEWS and VIEWS: mitochondrial encephalomyopathies (2016) (0)
Epidemiology of facio-scapulo-humeral dystrophy in north-west Tuscany: a molecular genetics-based revisitation. (2001) (0)
Reply to the letter (2013) (0)
G.P.3.08 Myoclonic epilepsy, cortical dysplasia and mitochondrial complex I deficiency: A case report (2009) (0)
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey (2020) (0)
Sindrome CREST: descrizione di un caso clinico con associata miopatia (1995) (0)
Influence of Dental Pulp Stem Cells on in vitro differentiation of Neural Stem Cells (2008) (0)
Can gastric emptying assessment by ultrasound be proposed for myotonic dystrophic patients without dyspeptic symptoms (1997) (0)
Equine mitochondrial DNA analysis: coxi and coxii. (2000) (0)
1163 Contribution of myocardial performance index to assessment of left ventricular function in patients with type-1 myotonic distrophy (2006) (0)
Changes in the Motor Units bioelectrical features linked to dynamic changes during disease progression in Amyotrophic Lateral Sclerosis (2005) (0)
Fatigue as a common signature of inflammatory myopathies: clinical aspects and care. (2022) (0)
Locus coeruleus assessment by MRI: A comparison of three different approaches (2021) (0)
Prolonged distal motor latency of median nerve does not improve diagnostic accuracy for CIDP (2021) (0)
P-9Construction of a database for a nation-wideItalian collaborative network of mitochondrialdiseases (2011) (0)
FSHD EP.164 The assessment of cognitive and psychological status in an adult-onset FSHD sample: a pilot study (2021) (0)
Sacral nerve stimulation for fecal incontinence in a patient with anti‐phospholipid syndrome–related autonomic neuropathy (2016) (0)
Response to “Salvage therapy for vagal nerve stimulator infection; Literature review and report of a delayed recurrence” (2021) (0)
Plasmatic and cerebrospinal fluid oxidative stress markers in multiple sclerosis: acontrolled study with inflammatory polyradiculoneuropathy (2011) (0)
RLS prevalence and impact on sleep quality in a group of relapsing-remittent multiple sclerosis patients (2022) (0)
Toxic myopathy induced by industrial minerals oils: Clinical and histopathological features (1986) (0)
Cardiac magnetic resonance findings in patients with type 1 myotonic dystrophy (2021) (0)
COX AND MITOCHONDRIAL F1F0-ATPASE (ATP SYNTHASE) ACTIVITIES IN PLATELETS AND BRAIN FROM PATIENTS WITH ALZHEIMER'S DISEASE (2002) (0)
α-Synuclein heteromers with ß-amyloid and tau decreased in red blood cells of Alzheimer’s disease and Lewy Body dementia patients. (2020) (0)
A pilot trial of G-CSF in amyotrophic lateral sclerosis (2008) (0)
Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 7 (2003) (0)
ROS Curcumin as an ROS Scavenger in Amyotrophic Lateral Sclerosis (2016) (0)
Thyroid function and oral TRH in amyotrophic lateral sclerosis (1990) (0)
The clinical spectrum of progressive muscle atrophy in north-west tuscany, Italy (2001) (0)
G.P.15.08 High genetic variability in European population: The FSHD complex puzzle (2009) (0)
Mitochondrial encephalomyopathy: In vivo diagnostic technique (2002) (0)
XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
Facio-scapulo-humeral muscular dystrophy in North-West Tuscany: a clinically and molecularly based epidemiological study (2000) (0)
Novel sarcoglycan mutations in a large cohort of italian patients (2003) (0)
Muscle functional and structural modifications in upper motoneuron lesions and Parkinson disease: EMG analysis (1993) (0)
Clinical and Electrophysiological Spectrum in a Group of Sporadic Distal Motor Neuropathies (2012) (0)
G.P.113 Clinical and molecular features of a large cohort of Italian McArdle patients (2015) (0)
1180 Integrated Backscatter Analysis detects early systolic functional and structural left ventricular alterations in patients with type-1 myotonic distrophy (2006) (0)
G.P.373 Large screening of patients diagnosed as limb girdle muscular dystrophy or congenital myopathy using Motorplex (2015) (0)
Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy (2022) (0)
P.369 NMR voxel-based morphometry and functional analysis as neural correlates of neuropsychological dysfunction in DM1 (2016) (0)
Polymorphisms inFolate Metabolising Genes and Micronuclei in Mothers of Down SyndromeChildren. (2007) (0)
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey. (2022) (0)
Painful neuropathy, monoclonal gammopathy and amyloid deposit: response to treatmente in 3 cases. (2002) (0)
Could Temperamental Features Modulate Participation in Clinical Trials? (2023) (0)
Two contrasting clinical manifestations of amyotrophic lateral sclerosis (ALS) related to FUS mutations (2021) (0)
Brain MRI in Monogenic Cerebral Small Vessel Diseases: A Practical Handbook. (2021) (0)
Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"? (2022) (0)
Cerebral motor cortex in amyotrophic lateral sclerosis at 7T: morphologic features and clinical correlations (2015) (0)
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies (2014) (0)
Ophthalmopathy in chronic inflammatory demyelinating polyradiculoneuropathy: a case report. (2023) (0)
Ultrasonograpfic evaluation of gastric emptying is helpful in myotonic dystrophic patients without dyspeptic symptoms. (1996) (0)
Consumer wrist-worn smartbands and OSAS screening: performance of supervised machine-learning algorithms (2022) (0)
PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
Murri Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis (2007) (0)
Detecting the vulnerable carotid plaque: the carotid artery multimodality imaging prognostic study design. (2022) (0)
Outcome measures characterization in an Italian cohort for CMT patients stratification (2021) (0)
Comparison of plasmatic interleukins patterns among cognitively unimpaired subjects, patients affected by mild cognitive impairment and subjects with Alzheimer's disease dementia (2021) (0)
Mitochondrial DNA deletions in Parkinson disease (2000) (0)
Pathophysiology and Management of Fatigue in Neuromuscular Diseases (2023) (0)
Sleep modulation in Parkinson’s Disease patients with Deep Brain Stimulation: the role of frequency variations (2022) (0)
PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) (2023) (0)
Limb girdle muscular dystrophy type 2a associated with epilepsy: a case report. (2001) (0)
Advanced MRI techniques in the investigation of patients with Amyotrophic Lateral Sclerosis (ALS) (2009) (0)
[Fatigue at various muscular lengths in myotonic dystrophy]. (1991) (0)
A Five-Year Longitudinal Study in Facioscapolohumeral Muscular Dystrophy: Assessment of Variables Influencing Disease Progression (2019) (0)
ERGOREFLEX OVERACTIVITY: A POTENTIAL CAUSE OF EXERCISE LIMITATION AND DYSAUTONOMIA IN PATIENTS WITH MITOCHONDRIAL MYOPATHY (2016) (0)
BIOMARKERS OF MUSCLE AND HEART DAMAGE IN PATIENTS WITH MITOCHONDRIAL DISEASE (2016) (0)
Nitroxidation markers and mitochondrial peripheral benzodiazepine receptors in amyotrophic lateral sclerosis (2004) (0)
Clinical correlates and outcomes of coronavirus disease in a cohort of myasthenia gravis patients (2021) (0)
Nitroxidation markers in CSF and Mitochondrial peripheral benzodiazepine receptor in amyotrophic lateral sclerosis. (2004) (0)
Submaximal exercise lactate as index of muscle function in ocular mitochondrial myopathy (1995) (0)
Dissecting the Interplay Between Time of Dementia and Cognitive Profiles in Lewy Body Dementias. (2021) (0)
Mitochondrial peripheral benzodiazepine receptor in amyotrophic lateral sclerosis (2007) (0)
Proximal myotonic myopathy (2020) (0)
Muscle fatigue phenomena in steinert disease: Evidence for alterations in sarcolemmal excitability (1993) (0)
Muscle modifications in Parkinson's disease: histological findings and EMG correlates (1996) (0)
[Abrupt shift to zolpidem, a new imidazopyridine hypnotic, in insomniac patients previously treated with benzodiazepine hypnotics]. (1993) (0)
Central and peripheral factors of fatigue in Parkinson's disease (1995) (0)
Dissecting early steps in the autophagy machinery to understand the molecular basisi of neurodegeneration. (2013) (0)
Serumgamma-glutamyltransferase fractions inMyotonic Dystrophy type I: Differences with healthy subjects and patients with liver disease (2010) (0)
Diffusion Tensor Imaging of corticospinal tract in amyotrophic lateral sclerosis (2004) (0)
Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment (following a Satellite Meeting of XII ICNMD, held in Pisa, July 23–24, 2010) (2012) (0)
Spontaneous bilateral carotid artery dissection and dermal collagen abnormality (2002) (0)
Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient. (2022) (0)
Sleep Disorders in an elderly population and their relationship with cognitive symptoms: an epidemiological survey (2018) (0)
P-8Preclinical Cardiac Involvement In ProgressiveExternal Ophthalmoplegia (2011) (0)
P.147 Deflazacort treatment in LMNA-related congenital muscular dystrophy: an ongoing Italian cohort pilot study (2022) (0)
Case report An "inflammatory" mitochondrial myopathy. A case report (2013) (0)
Contents, Vol 33, 1993 / Publisher's Note (1993) (0)
Prolonged distal motor latency of median nerve does not improve diagnostic accuracy for CIDP (2021) (0)
P.357 The EUROMAC registry for rare glycogen storage diseases: preliminary report (2017) (0)
Sleep structure in bilateral thalamic stroke: A case report (2000) (0)
P.120EUROMAC: A European registry for patients with McArdle disease and other very rare muscle glycogenoses (2019) (0)
The role of magnetic resonance imaging in the diagnostic work-out of myopathies: differential diagnosis between inflammatory myopathies and muscular dystrophies. (2022) (0)
Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 54 (2003) (0)
Molecular and clinical characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP) (2006) (0)
Un caso di multinevrite associata a miosite in corso di sindrome di Churg-Strauss (1994) (0)
A NOVEL MUTATION OF CONNEXIN-32 GENE IN A CMTX ITALIAN FAMILY (2000) (0)
Physical exercise and oxidative stress in muscular dystrophies : is there a good balance ? Exercise and oxidative stress in MDs (2017) (0)
Metabolic muscle adaptation to aerobic training in patients affected by mitochondrial myopathies. (2001) (0)
The Role of Amyloid-β, Tau, and α-Synuclein Proteins as Putative Blood Biomarkers in Patients with Cerebral Amyloid Angiopathy. (2022) (0)
Plasmatic oxidative stress biomarkers in multiple sclerosis patients with different clinical course (2014) (0)
D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy (2008) (0)
Sensory axonal polyneuropathy in a patient with Systemic capillary leak syndrome (Clarkson disease): a case report. (2015) (0)
Plasma redox and inflammatory patterns during major depressive episodes: a cross-sectional investigation in elderly patients with mood disorders (2020) (0)
O-4 The Italian Network for Laminopathies (2011) (0)
Regional North American Annual Meeting of the World Federation of Neurology – Research Group on Neuroepidemiology, Louisiana State University, New Orleans, La., April 27, 2012 (2012) (0)
Progranulin genetic variability is not associated to sporadic amyotrophic lateral sclerosis in Italian patients (2008) (0)
Front & Back Matter (2012) (0)
Sex differences in red blood cell α ‐synuclein protein and its heteroaggregates with amyloid‐β and tau in early Alzheimer’s disease (2020) (0)
Reduced total plasma coenzyme Q10 in Steinert’s Disease (2000) (0)
SOD1 GENE MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE ITALIAN STUDY (2003) (0)
Kennedy’s disease: a case report. (2000) (0)
In JME patients, prolonged and short epileptiform discharges have an opposite relationship with the sleep-wake cycle (2021) (0)
Lamina X of the spinal cord in motor neuron disease (2014) (0)
Assessment of the integrity of the noradrenergic nucleus locus coeruleus during normal ageing by neuromelanin‐3T MRI (2020) (0)
Immunoglobulin treatment in myasthenia gravis (1985) (0)
P252 HIGH BIOAVAILABILITY CURCUMIN AND MOTOR NEURON DEGENERATION: RESULTS OF A PILOT THERAPEUTIC TRIAL IN AMYOTROPHIC LATERAL SCLEROSIS (2016) (0)
P-9 Construction of a database for a nation-wide Italian collaborative network of mitochondrial diseases (2011) (0)
Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 8 (2003) (0)
FUS Mutations in a Large Series of Sporadic and Familial ALS (2010) (0)
Phenotipic-genotypic study of amyothrophic lateral sclerosis Italian families with the G41S SOD1 gene mutation. (2005) (0)
Brain metabolic correlates of Locus Coeruleus degeneration in Alzheimer's disease: a multimodal neuroimaging study (2022) (0)
duplication in CMT 1 A : a study of 78 patients . Non-radioactive detection of 17 p 11 . 2 and (0)
Organi SBA (2018) (0)
Short communication Antimyoclonic effect of levetiracetam in MERRF syndrome (2006) (0)
P301L Tau mutation and non‐Alzheimer dementias in Italy (2003) (0)
Is hypnotic assessment relevant to neurology? (2022) (0)
Magnetization Transfer Imaging Of Cortical Motor System In Als Patients At Early Stage of Disease (2010) (0)
VISUAL ALLUCINATIONS IN PD ARE NOT INFLUENCED BY POLYMPRPHISMS OF SEROTONIN 5-HT2A RECEPTOR AND TRANSPORTER GENES (2007) (0)
PROCEEDINGS OF THE XXI CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY (2021) (0)
Longitudinal evaluation of BOLD response in motor cortex and “motor related” cerebral areas of ALS patients (2012) (0)
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2022) (0)
G.P.14.04 Oxidative stress markers are reduced after cysteine donor enriched dietary intake in myotonic dystrophy type I (2007) (0)
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report (2022) (0)
Potential of immunoglobuline treatment in motor neuron diseases associated to blood-brain barrier damage (2021) (0)
Risk of disease relapse, safety and tolerability of SARS-CoV-2 vaccination in patients with chronic inflammatory neuropathies. (2023) (0)
Neural stem cells cocultured with dental pulp stem cells preferentially differentiate into glial cells (2007) (0)
O-3 Clinical features and outcome measures during 1 year enzyme replacement therapy in late onset GSD II patients (2011) (0)
XII CONGRESS OF MEDITERRANEAN SOCIETY OF MYOLOGY Naples, Italy - May 18-20, 2015 Program (Summary) (2015) (0)
In vivo assessment of the noradrenergic nucleus locus coeruleus in Alzheimer’s disease and other types of dementia (2020) (0)
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies (2022) (0)
Qualitative evaluation of the Rey-Osterrieth Complex Figure Test in patients with progressive supranuclear palsy. (2022) (0)
6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen (2021) (0)
Exercise-related peroxidation events and possible role of endothelin-1 in mitochondrial myopathies (2004) (0)
Immunoglobulin therapy in chronic inflammatory demyelinating polyneuropathy: Intravenous versus subcutaneous administration (2021) (0)
A PHASE I-II MULTICENTRE STUDY ON G-CSF IN AMYOTROPHIC LATERAL SCLEROSIS (STEMALS) (2007) (0)
P.349 Myofibrillar myopathies with autophagic vacuoles: Report of a case series (2016) (0)
P.358 Report on nationwide Italian collaborative network for muscle glycogen storage disorders (2017) (0)
Metabolic and Muscle Adaptation to Aerobic Training in Patients Affected by Chronic Progressive External Ophthalmoplegia (2002) (0)
Assessment of endogenous DNA oxidative stress in mitochondrial encephalomyopathies. (2002) (0)
Bilateral hippocampal toxic damage: an “unforgettable” cause of acute global amnesia (2023) (0)
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (0)
H-MTTFA muscle levels in mitochondrial myopathies. (2000) (0)
G.P.7.02 Multicenter study on occurrence of auditory impairment in facioscapulohumeral muscular dystrophy (2007) (0)
Effects of lithium administration on oxidative stress markers in amyotrophic lateral sclerosis patients (2009) (0)
Metabolic and muscle adaptation to aerobic training in CPEO patients. (2000) (0)
A multicentre trial G-CSF in Amyotrophic Lateral Sclerosis (2007) (0)
Mitochondrial dysfunction in exercise muscle from ALS patients (2000) (0)
Reply to P.M. Foye ( Letter ) (2008) (0)
Modification of muscle fatigue phenomena in motor system lesions (1992) (0)
Novel LMNA gene mutation in a patient with cardiac and skeletal muscle involvement (2009) (0)
Reply to: Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment. (2013) (0)
Occurrence of IgG oligoclonal bands in upper motor neuron disease: just by chance? (2015) (0)
Mutational Profile in 75 Patients With Anti–Myelin-Associated Glycoprotein Neuropathy (2023) (0)
Response [NEUROMUSCULAR DISORDERS] (2012) (0)
P-3 Exercise intolerance in Mc Ardle Disease: functional and metabolic evaluation (2011) (0)
Cardiac magnetic resonance findings and prognosis in type 1 myotonic dystrophy (2022) (0)
α-Synuclein Aggregates with β-Amyloid or Tau in Human Red Blood Cells: Correlation with Antioxidant Capability and Physical Exercise in Human Healthy Subjects (2017) (0)
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. (2013) (0)
NSS_A_352335 941..956 (2022) (0)
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy (2023) (0)
Tubular Aggregates Myopathy: case description (2016) (0)
A mitochondrial tRNAPhe mutation causes MERRF syndrome [Sindrome MERRF associata a mutazione del tRNAPhe] (2005) (0)
Subject Index Vol. 33, 1993 (1993) (0)
Early diagnosis and early treatment in LOPD: when asymptomatic patients should be treated (2014) (0)
Locus coeruleus magnetic resonance imaging correlates with [18F]Fluoro deoxyglucose uptake in Alzheimer’s disease patients (2021) (0)
Hypoparathyroidism in Mitochondrial Disorders (2015) (0)
prevalence of dementia in a population-based study (2001) (0)
Apolipoprotein E genotype and behavioural change in AD (2000) (0)
Kid-bot, robotized system for the rehabilitation of walking in children with cerebral palsy: Clinical testing (2009) (0)
Exercise lactate anaerobic threshold in hereditary spastic paraplegia. (2000) (0)
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing (2022) (0)
PLASMATIC AND CEREBROSPINAL FLUID OXIDATIVE STRESS BIOMARKERS IN ACUTE AND CHRONIC POLYRADICULONEUROPATHIES (2011) (0)
Sarcolemman excitability in myotonic dystrophy: evaluation by means of muscle conduction velocity and EMG power spectrum parameter analysis (1995) (0)
Oxidative stress in myotonic dystrophy type 1 (2006) (0)
impaired oxidative metabolism in exercising muscle and its relationship to decreased activity of platelets cox in alzheimer disease (2001) (0)
Evaluation of acylcarnitines with dicarboxylic acid residues as candidate markers for neurodegenerative syndromes (2013) (0)
Clinical and laboratory criteria for FSHD diagnosis in view of a national registry for the disease (2007) (0)
[Usefulness Of electromyographic examination of families of patients affected with hypertrophic sensory-motor neuropathy (Charcot-Marie-Tooth disease). Preliminary results]. (1984) (0)
Advances in molecular diagnostics for mitochondrial diseases. (2009) (0)
Results of Idebenone Treatment in Patients with Ocular Mitochondrial Myopathy (1996) (0)
Potential Diagnostic Value of Red Blood Cells α-Synuclein Heteroaggregates in Alzheimer’s Disease (2019) (0)
Facio-scapulo-humeral dystrophy in north-west Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study (2001) (0)
G.P.3.10 Oxidative stress biomarkers are related to disease severity in mitochondrial myopathies, and may be modified by a cysteine donor (2009) (0)
THEME 2 GENETICS AND GENOMICS GEN-01 A case of an uncommon late onset of ALS associated with an undescribed SOD1 mutation GEN-02 A novel mutation in ZFYVE26 gene (c.195-1G > A) in a young man affected by spastic paraplegia (0)
New therapeutics to modulate mitochondrial energy metabolism in neurodegenerative disorders (2021) (0)
Response (2012) (0)
Lithium protects motor neurons at prolonged time intervals in a single knock out double transgenic mouse model of spinal muscle atrophy (2012) (0)
Multicenter, non-interventional, double cohort study to assess the safety of alglucosidase alfa and laronidase in real-world home infusion setting (2022) (0)
Symptomatic C9ORF72 mutation in non-fluent aphasia without neuroimaging signs of cerebral atrophy: A case study (2021) (0)
Role of the Functional Neuroimaging in the Follow of cortical brain damage in patients with Amyotrophic Lateral Sclerosis (2011) (0)
Coenzyme Q10 deficiency in myotonic dystrophy: a possible effect of the generational trinucleotide CTG expansion increase? (1999) (0)
Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both (2016) (0)
Red blood cell α‐synuclein heteroaggregates can discriminate healthy controls from cognitively impaired subjects of the AD‐LBD spectrum (2020) (0)
Oxidative stress modulation in neurodegenerative diseases (2011) (0)
Clinical open‐label study for evaluation of efficacy and tolerability of oxcarbazepine in the treatment of neuropathic pain (2004) (0)
Subacute Alzheimer’s disease with prominent white matter involvement. Report of a pathologically-confirmed case (2013) (0)
I-4Long-term follow-up effects on enzymereplacement treatment of adult form of acidmaltase deficiency myopathy (2011) (0)
ORIGINAL RESEARCH Magnetization Transfer Imaging Demonstrates a Distributed Pattern of Microstructural Changes of the Cerebral Cortex in Amyotrophic Lateral Sclerosis (2011) (0)
After Twenty Years’ Experience, Should the Structures and Standards of Burns Centres be Reconsidered? (1995) (0)
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases (2021) (0)
COVID-19 AND NEUROMUSCULAR DISEASES EP.23 Telemedicine tools to break down barriers in neuromuscular diseases: Clinical patient management system (CPMS) and telegenetics (2021) (0)
Techniques for muscle fatigue evaluation in muscular dystrophies (1992) (0)
P.224 Non-5q spinal muscular atrophy in twin sisters with SPG11/CMT2X associated spatacsin gene mutation (2022) (0)
[Therapy of myotonia congenita]. (1986) (0)
Skeletal muscle abnormalities in DCM and HCM: evidence of subclinical type 1 fiber myogenic myopathy (1989) (0)
The role of tactile pressure input in the habituation phenomenon of the trigemino-facial reflex (1985) (0)
Unusual concomitant small‐ and large‐fiber neuropathy related to hypereosinophilic syndrome (2021) (0)

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