IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
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Continente #
EU - Europa 2.798
Totale 2.798
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Nazione #
IT - Italia 2.798
Totale 2.798
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Città #
Genova 2.042
Rapallo 423
Genoa 321
Bordighera 12
Totale 2.798
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Nome #
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 146
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 142
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 131
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 129
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 129
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 129
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 127
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 122
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 112
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 111
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 110
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 108
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 107
The FIG4 gene does not play a major role in causing ALS in Italian patients. 104
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 102
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 102
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 101
Contribution of copy number variations in CMT1X: a retrospective study. 100
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 94
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 89
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 89
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 87
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 75
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 71
Two families with novel PMP22 point mutations: genotype-phenotype correlation. 55
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 55
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 53
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 40
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 32
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 17
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 8
Case report: Episodic ataxia without ataxia? 3
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 3
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 3
Totale 2.886
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Categoria #
all - tutte 8.384
article - articoli 8.384
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 16.768
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019176 0 0 0 0 0 0 0 0 0 34 71 71
2019/2020866 46 18 23 55 84 104 137 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
2023/2024292 20 33 6 61 19 81 20 25 19 8 0 0
Totale 2.886