IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
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Continente #
EU - Europa 4.630
AS - Asia 576
NA - Nord America 310
SA - Sud America 58
AF - Africa 14
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.592
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Nazione #
IT - Italia 4.526
US - Stati Uniti d'America 293
SG - Singapore 240
CN - Cina 143
VN - Vietnam 118
FR - Francia 33
BR - Brasile 31
HK - Hong Kong 20
NL - Olanda 14
FI - Finlandia 12
AR - Argentina 9
MX - Messico 9
DE - Germania 8
ES - Italia 8
EC - Ecuador 7
GB - Regno Unito 7
IQ - Iraq 6
PH - Filippine 6
JP - Giappone 5
CO - Colombia 4
IL - Israele 4
IN - India 4
PK - Pakistan 4
AU - Australia 3
BD - Bangladesh 3
CA - Canada 3
CL - Cile 3
PY - Paraguay 3
TR - Turchia 3
ZA - Sudafrica 3
AZ - Azerbaigian 2
EG - Egitto 2
GR - Grecia 2
ID - Indonesia 2
IE - Irlanda 2
KZ - Kazakistan 2
LT - Lituania 2
PL - Polonia 2
RO - Romania 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
TN - Tunisia 2
TW - Taiwan 2
UA - Ucraina 2
UZ - Uzbekistan 2
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BW - Botswana 1
CH - Svizzera 1
CR - Costa Rica 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
GH - Ghana 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LV - Lettonia 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
PA - Panama 1
PS - Palestinian Territory 1
RS - Serbia 1
SE - Svezia 1
SK - Slovacchia (Repubblica Slovacca) 1
SY - Repubblica araba siriana 1
TZ - Tanzania 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 5.592
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Città #
Genova 2.042
Genoa 1.639
Rapallo 423
Vado Ligure 365
Singapore 113
San Jose 81
Ashburn 75
Ho Chi Minh City 41
Beijing 35
Hanoi 33
Lauterbourg 29
Council Bluffs 23
Hong Kong 17
New York 16
Bordighera 12
Helsinki 10
Los Angeles 10
Milan 10
Santa Clara 10
Orem 8
Frankfurt am Main 6
Mexico City 6
Amsterdam 5
Haiphong 5
Tokyo 5
Baghdad 4
Breda 4
Da Nang 4
São Paulo 4
Buffalo 3
City of London 3
Dallas 3
Madrid 3
Tianjin 3
Baku 2
Barcelona 2
Bắc Ninh 2
Cairo 2
Can Tho 2
Cape Town 2
Caxias do Sul 2
Chennai 2
Chicago 2
Curitiba 2
Dublin 2
Jeddah 2
Lappeenranta 2
Phoenix 2
Phúc Yên 2
Quận Bình Thạnh 2
Rosario 2
Santiago 2
Shanghai 2
Shenzhen 2
Sydney 2
Tashkent 2
Warsaw 2
Accra 1
Alessandria 1
Almaty 1
Ambato 1
Amman 1
Arroyito 1
Asunción 1
Athens 1
Augusta 1
Baguio City 1
Baoding 1
Bath 1
Bellerive-sur-Allier 1
Bergondo 1
Besançon 1
Bishkek 1
Biên Hòa 1
Bologna 1
Boston 1
Boumhel El Bassatine 1
Brampton 1
Brasília 1
Brisbane 1
Bucharest 1
Buenos Aires 1
Bursa 1
Bình Dương 1
Bến Cầu 1
Bến Tre 1
Caetanópolis 1
Campo Grande 1
Cardiff 1
Casilda 1
Chang-hua 1
Changshu 1
Chongqing 1
Colombo 1
Concord 1
Conway 1
Copenhagen 1
Damascus 1
Dar es Salaam 1
Dasmariñas 1
Totale 5.139
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Nome #
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 222
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 205
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 200
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 198
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 197
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 194
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 193
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 192
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 187
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 181
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 172
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 170
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 168
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 167
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 167
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 163
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 162
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 161
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 159
Contribution of copy number variations in CMT1X: a retrospective study. 154
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 154
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 151
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 147
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 138
The FIG4 gene does not play a major role in causing ALS in Italian patients. 135
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 133
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 123
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 117
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 113
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 106
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 102
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 95
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 95
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 91
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 87
Two families with novel PMP22 point mutations: genotype-phenotype correlation. 82
Case report: Episodic ataxia without ataxia? 74
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 52
null 43
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect 30
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 24
Totale 5.704
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Categoria #
all - tutte 18.272
article - articoli 18.272
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 36.544
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021109 0 0 0 0 0 0 0 0 0 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
2025/20261.661 266 74 125 137 283 115 269 98 124 170 0 0
Totale 5.704