IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
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Continente #
EU - Europa 4.475
AS - Asia 53
SA - Sud America 6
NA - Nord America 1
Totale 4.535
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Nazione #
IT - Italia 4.475
CN - Cina 40
SG - Singapore 8
VN - Vietnam 5
BR - Brasile 4
EC - Ecuador 2
US - Stati Uniti d'America 1
Totale 4.535
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Città #
Genova 2.042
Genoa 1.632
Rapallo 423
Vado Ligure 365
Beijing 22
Bordighera 12
Hanoi 2
Ho Chi Minh City 2
Ashburn 1
Caetanópolis 1
Ouro Fino 1
Phúc Yên 1
Samambaia 1
Santa Elena 1
Singapore 1
São Paulo 1
Yantzaza 1
Totale 4.509
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Nome #
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 189
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 180
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 180
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 167
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 162
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 161
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 160
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 154
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 152
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 151
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 151
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 142
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 142
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 141
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 141
Contribution of copy number variations in CMT1X: a retrospective study. 139
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 137
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 135
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 133
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 131
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 125
The FIG4 gene does not play a major role in causing ALS in Italian patients. 124
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 121
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 119
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 118
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 101
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 88
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 86
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 77
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 77
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 74
Two families with novel PMP22 point mutations: genotype-phenotype correlation. 73
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 68
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 66
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 65
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 65
Case report: Episodic ataxia without ataxia? 52
null 43
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 35
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect 11
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 9
Totale 4.645
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Categoria #
all - tutte 16.512
article - articoli 16.512
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 33.024
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021268 0 0 0 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
2024/20251.073 36 69 25 83 101 93 100 224 63 51 126 102
2025/2026602 266 74 125 137 0 0 0 0 0 0 0 0
Totale 4.645