IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
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Continente #
EU - Europa 3.269
Totale 3.269
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Nazione #
IT - Italia 3.269
Totale 3.269
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Città #
Genova 2.042
Genoa 427
Rapallo 423
Vado Ligure 365
Bordighera 12
Totale 3.269
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Nome #
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 160
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 157
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 143
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 140
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 140
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 139
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 136
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 134
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 122
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 122
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 121
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 120
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 118
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 116
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 115
The FIG4 gene does not play a major role in causing ALS in Italian patients. 112
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 111
Contribution of copy number variations in CMT1X: a retrospective study. 110
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 106
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 106
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 101
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 96
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 88
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 86
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 69
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 66
Two families with novel PMP22 point mutations: genotype-phenotype correlation. 63
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 53
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 43
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 29
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 25
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 24
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 21
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 21
Case report: Episodic ataxia without ataxia? 16
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 16
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 13
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 10
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 6
Totale 3.374
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Categoria #
all - tutte 11.802
article - articoli 11.802
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 23.604
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020640 0 0 0 0 0 104 137 72 97 128 80 22
2020/2021337 25 23 21 28 41 22 16 19 33 53 29 27
2021/2022372 11 15 48 29 21 25 24 78 15 35 28 43
2022/2023473 29 50 5 52 88 69 1 34 71 4 65 5
2023/2024376 20 33 6 61 19 81 20 25 19 14 24 54
2024/2025404 36 69 25 83 101 90 0 0 0 0 0 0
Totale 3.374