Nome |
# |
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier., file e268c4c8-e09b-a6b7-e053-3a05fe0adea1
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280
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A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy, file e268c4ca-0f0b-a6b7-e053-3a05fe0adea1
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264
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CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients, file e268c4ca-9e8d-a6b7-e053-3a05fe0adea1
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177
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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study, file e268c4cb-43bc-a6b7-e053-3a05fe0adea1
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108
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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis, file e268c4ca-d14f-a6b7-e053-3a05fe0adea1
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105
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Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1, file e268c4c7-06dc-a6b7-e053-3a05fe0adea1
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104
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Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise", file e268c4c9-fae8-a6b7-e053-3a05fe0adea1
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101
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, file e268c4ca-aa1c-a6b7-e053-3a05fe0adea1
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84
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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation, file e268c4ca-d144-a6b7-e053-3a05fe0adea1
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80
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Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017, file e268c4cd-9362-a6b7-e053-3a05fe0adea1
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54
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null, file e268c4ce-697f-a6b7-e053-3a05fe0adea1
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37
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Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population., file e268c4c6-cefb-a6b7-e053-3a05fe0adea1
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31
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An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia, file 4c42b711-cc1e-418c-aaee-53f4dd8886db
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29
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SARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study, file d5fbbd71-f35e-4da7-9c89-fb8db1da76ae
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19
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ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry., file e268c4c7-9b93-a6b7-e053-3a05fe0adea1
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17
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Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years, file e268c4ce-a6fe-a6b7-e053-3a05fe0adea1
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16
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The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment, file a89d9a55-c44b-435a-9209-303ff791226d
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15
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Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling., file e268c4c7-36c6-a6b7-e053-3a05fe0adea1
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14
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A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?, file e268c4cc-3977-a6b7-e053-3a05fe0adea1
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14
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The FIG4 gene does not play a major role in causing ALS in Italian patients., file e268c4c7-2eab-a6b7-e053-3a05fe0adea1
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13
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Contribution of copy number variations in CMT1X: a retrospective study., file e268c4c7-2ebc-a6b7-e053-3a05fe0adea1
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13
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ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion, file e268c4c7-921c-a6b7-e053-3a05fe0adea1
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13
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Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype., file e268c4c7-3467-a6b7-e053-3a05fe0adea1
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11
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A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family., file e268c4c7-363e-a6b7-e053-3a05fe0adea1
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11
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EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2, file e268c4cb-fc51-a6b7-e053-3a05fe0adea1
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10
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Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results., file e268c4c7-0bd8-a6b7-e053-3a05fe0adea1
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9
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Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens., file e268c4c7-3641-a6b7-e053-3a05fe0adea1
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9
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A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome)., file e268c4c5-f6e2-a6b7-e053-3a05fe0adea1
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8
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Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation., file e268c4c7-2edc-a6b7-e053-3a05fe0adea1
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8
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An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report, file a37652d2-283f-477e-9f51-817212b2f1f3
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7
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Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study, file e268c4c5-ed4d-a6b7-e053-3a05fe0adea1
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7
|
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region., file e268c4c7-360c-a6b7-e053-3a05fe0adea1
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7
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Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms, file e268c4c6-1faa-a6b7-e053-3a05fe0adea1
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6
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Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling., file e268c4c6-d18b-a6b7-e053-3a05fe0adea1
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6
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A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease., file e268c4c7-3469-a6b7-e053-3a05fe0adea1
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6
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T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype., file e268c4c7-2edd-a6b7-e053-3a05fe0adea1
|
5
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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing, file d89201b1-4a57-43e3-b359-757bed734937
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4
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TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis, file e268c4c6-b9c4-a6b7-e053-3a05fe0adea1
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4
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Genetic counselling in ALS: facts, uncertainties and clinical suggestions., file e268c4c6-cf3b-a6b7-e053-3a05fe0adea1
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4
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Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation., file e268c4c7-2b42-a6b7-e053-3a05fe0adea1
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4
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The spectrum of GNE mutations: allelic heterogeneity for a common phenotype., file e268c4c7-3615-a6b7-e053-3a05fe0adea1
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4
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Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients, file e268c4c7-3753-a6b7-e053-3a05fe0adea1
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4
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Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family., file e268c4c7-9d40-a6b7-e053-3a05fe0adea1
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4
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Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry, file 01e28e16-c438-4365-b5c7-bfd817bc919e
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3
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Genetic mechanisms of critical illness in COVID-19, file c911c9cc-9cc5-4d4e-bad7-5bee76d2c5da
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3
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A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect, file e268c4c6-10db-a6b7-e053-3a05fe0adea1
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3
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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72., file e268c4c6-cf3a-a6b7-e053-3a05fe0adea1
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3
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Genetic factors and systemic sclerosis, file e268c4c8-4822-a6b7-e053-3a05fe0adea1
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3
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Diagnosing Fabry nephropathy: the challenge of multiple kidney disease, file 5c937967-8cb6-445b-8ce2-6ca5aeefbfb3
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2
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ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT, file b7db703b-c661-4ab0-8565-b8cb0b264dff
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2
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Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression., file e268c4c6-cda3-a6b7-e053-3a05fe0adea1
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2
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Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease, file e268c4c7-37ce-a6b7-e053-3a05fe0adea1
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2
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Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis, file e268c4c9-96a8-a6b7-e053-3a05fe0adea1
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2
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β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease, file e268c4ca-ca56-a6b7-e053-3a05fe0adea1
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2
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Diagnostic genetic testing for Huntington's disease., file e268c4cb-19ea-a6b7-e053-3a05fe0adea1
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2
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People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey, file e268c4cd-4377-a6b7-e053-3a05fe0adea1
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2
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No evidence of association between BDNF gene variants and age at onset of Huntington disease, file e268c4c5-fea2-a6b7-e053-3a05fe0adea1
|
1
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GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course, file e268c4c7-34d2-a6b7-e053-3a05fe0adea1
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1
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Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register, file e268c4c7-8502-a6b7-e053-3a05fe0adea1
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1
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1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa., file e268c4c8-5da1-a6b7-e053-3a05fe0adea1
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1
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Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients, file e268c4c8-d771-a6b7-e053-3a05fe0adea1
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1
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Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients., file e268c4c9-a157-a6b7-e053-3a05fe0adea1
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1
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Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease, file e268c4ca-a414-a6b7-e053-3a05fe0adea1
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1
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Clinical and genetic characteristics of late-onset Huntington's disease, file e268c4cb-0f4e-a6b7-e053-3a05fe0adea1
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1
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TBK1 is associated with ALS and ALS-FTD in Sardinian patients., file e268c4cb-19e8-a6b7-e053-3a05fe0adea1
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1
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Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype, file e268c4cb-1d44-a6b7-e053-3a05fe0adea1
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1
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A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient, file e268c4cb-34a3-a6b7-e053-3a05fe0adea1
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1
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Quiz page february 2015: renal colic in an adolescent., file e268c4cb-34a7-a6b7-e053-3a05fe0adea1
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1
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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study, file e268c4cb-43b7-a6b7-e053-3a05fe0adea1
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1
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Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study, file e268c4cc-0070-a6b7-e053-3a05fe0adea1
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1
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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus, file e268c4ce-fe56-a6b7-e053-3a05fe0adea1
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1
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A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY, file f0373291-90a6-4fa7-83bf-877905eb6259
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1
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Totale |
1.773 |