IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 3.009
Totale 3.009
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 3.009
Totale 3.009
Salva come PNG Salva come JPEG
Città #
Genova 2.042
Rapallo 423
Genoa 422
Vado Ligure 110
Bordighera 12
Totale 3.009
Salva come PNG Salva come JPEG
Nome #
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 151
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 150
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 136
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 135
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 134
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 134
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 131
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 125
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 117
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 115
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 115
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 113
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 111
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 110
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 109
The FIG4 gene does not play a major role in causing ALS in Italian patients. 107
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 106
Contribution of copy number variations in CMT1X: a retrospective study. 104
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 101
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 97
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 92
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 92
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 82
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 78
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 62
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 58
Two families with novel PMP22 point mutations: genotype-phenotype correlation. 57
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 46
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 38
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 25
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 16
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 15
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 13
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 13
Case report: Episodic ataxia without ataxia? 10
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 9
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 2
Totale 3.109
Salva come PNG Salva come JPEG
Categoria #
all - tutte 10.371
article - articoli 10.371
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.742
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020779 0 0 0 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
2023/2024376 20 33 6 61 19 81 20 25 19 14 24 54
2024/2025139 36 69 25 9 0 0 0 0 0 0 0 0
Totale 3.109