IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 966
Totale 966
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 966
Totale 966
Salva come PNG Salva come JPEG
Città #
Genova 477
Rapallo 316
Genoa 166
Bordighera 7
Totale 966
Salva come PNG Salva come JPEG
Nome #
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier., file e268c4c8-e09b-a6b7-e053-3a05fe0adea1 282
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 265
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1, file e268c4c7-06dc-a6b7-e053-3a05fe0adea1 105
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise", file e268c4c9-fae8-a6b7-e053-3a05fe0adea1 101
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017, file e268c4cd-9362-a6b7-e053-3a05fe0adea1 54
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population., file e268c4c6-cefb-a6b7-e053-3a05fe0adea1 31
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years, file e268c4ce-a6fe-a6b7-e053-3a05fe0adea1 17
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment, file a89d9a55-c44b-435a-9209-303ff791226d 15
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?, file e268c4cc-3977-a6b7-e053-3a05fe0adea1 14
The FIG4 gene does not play a major role in causing ALS in Italian patients., file e268c4c7-2eab-a6b7-e053-3a05fe0adea1 13
Contribution of copy number variations in CMT1X: a retrospective study., file e268c4c7-2ebc-a6b7-e053-3a05fe0adea1 13
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family., file e268c4c7-363e-a6b7-e053-3a05fe0adea1 11
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy, file e268c4c7-1e61-a6b7-e053-3a05fe0adea1 10
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 10
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 8
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease., file e268c4c7-3469-a6b7-e053-3a05fe0adea1 6
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT, file b7db703b-c661-4ab0-8565-b8cb0b264dff 2
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease, file e268c4c7-37ce-a6b7-e053-3a05fe0adea1 2
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course, file e268c4c7-34d2-a6b7-e053-3a05fe0adea1 1
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene, file e268c4c8-54d7-a6b7-e053-3a05fe0adea1 1
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients, file e268c4c8-d771-a6b7-e053-3a05fe0adea1 1
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients., file e268c4c9-a157-a6b7-e053-3a05fe0adea1 1
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 1
Expanding the spectrum of genes responsible for hereditary motor neuropathies., file e268c4cb-25d7-a6b7-e053-3a05fe0adea1 1
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs), file e268c4cb-d839-a6b7-e053-3a05fe0adea1 1
Totale 966
Salva come PNG Salva come JPEG
Categoria #
all - tutte 2.275
article - articoli 2.275
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.550
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020102 0 0 0 0 8 10 12 12 27 15 13 5
2020/2021149 13 9 11 14 7 6 12 11 13 18 20 15
2021/2022237 7 12 15 27 21 11 17 16 20 17 53 21
2022/2023368 13 45 59 42 42 70 19 28 8 11 22 9
2023/2024110 7 19 13 12 8 10 10 14 3 11 3 0
Totale 966