IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
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Continente #
EU - Europa 4.703
NA - Nord America 740
AS - Asia 668
Continente sconosciuto - Info sul continente non disponibili 118
SA - Sud America 64
AF - Africa 14
OC - Oceania 4
Totale 6.311
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Nazione #
IT - Italia 4.585
US - Stati Uniti d'America 689
SG - Singapore 240
CN - Cina 158
VN - Vietnam 120
BD - Bangladesh 73
FR - Francia 35
BR - Brasile 34
CA - Canada 23
HK - Hong Kong 22
NL - Olanda 18
FI - Finlandia 12
DE - Germania 11
AR - Argentina 10
MX - Messico 10
ES - Italia 9
EC - Ecuador 7
GB - Regno Unito 7
CO - Colombia 6
IN - India 6
IQ - Iraq 6
JM - Giamaica 6
JP - Giappone 6
PH - Filippine 6
AU - Australia 4
IL - Israele 4
PK - Pakistan 4
CL - Cile 3
NI - Nicaragua 3
PL - Polonia 3
PY - Paraguay 3
TR - Turchia 3
ZA - Sudafrica 3
AL - Albania 2
AZ - Azerbaigian 2
EG - Egitto 2
GR - Grecia 2
GT - Guatemala 2
HN - Honduras 2
ID - Indonesia 2
IE - Irlanda 2
KZ - Kazakistan 2
LT - Lituania 2
RO - Romania 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
TN - Tunisia 2
TW - Taiwan 2
UA - Ucraina 2
UZ - Uzbekistan 2
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BM - Bermuda 1
BW - Botswana 1
CH - Svizzera 1
CR - Costa Rica 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
GH - Ghana 1
HR - Croazia 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
PR - Porto Rico 1
PS - Palestinian Territory 1
PT - Portogallo 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 6.194
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Città #
Genova 2.042
Genoa 1.645
Rapallo 423
Vado Ligure 365
San Jose 138
Singapore 113
Ashburn 98
Beijing 46
Ho Chi Minh City 41
Hanoi 33
Lauterbourg 29
New York 28
Council Bluffs 23
Los Angeles 23
Hong Kong 18
Santa Clara 16
Milan 13
Bordighera 12
Dallas 10
Helsinki 10
Phoenix 10
Buffalo 8
Orem 8
Chicago 7
Frankfurt am Main 7
Mexico City 6
Montreal 6
Rome 6
Amsterdam 5
Da Nang 5
Haiphong 5
Houston 5
Las Vegas 5
Tokyo 5
Baghdad 4
Breda 4
Huntsville 4
Kingston 4
San Francisco 4
São Paulo 4
Alessandria 3
Bagno a Ripoli 3
Bari 3
Boardman 3
City of London 3
Dearborn 3
Jacksonville 3
Madrid 3
Managua 3
Miami 3
Naples 3
Nashville 3
Philadelphia 3
Pittsburgh 3
Sydney 3
Tianjin 3
Toronto 3
Warsaw 3
Anchorage 2
Baku 2
Barcelona 2
Boydton 2
Brampton 2
Brooklyn 2
Bắc Ninh 2
Cairo 2
Can Tho 2
Cape Town 2
Capitol Heights 2
Caxias do Sul 2
Chennai 2
Cleveland 2
Columbus 2
Conway 2
Curitiba 2
Dublin 2
Figino 2
Guatemala City 2
Harrison 2
Jeddah 2
Kissimmee 2
Lappeenranta 2
Mechanicsburg 2
Midland 2
New Orleans 2
Newark 2
North Las Vegas 2
Novate Milanese 2
Nuremberg 2
Phúc Yên 2
Prairieville 2
Queens 2
Quận Bình Thạnh 2
Riverside 2
Rosario 2
San Bernardino 2
Santiago 2
Shanghai 2
Shenzhen 2
Tashkent 2
Totale 5.376
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Nome #
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 254
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 239
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 219
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 209
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 203
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 202
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 202
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 201
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 196
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 195
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 194
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 187
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 186
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 181
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 180
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 176
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 176
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 175
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 171
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 169
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 167
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 166
Contribution of copy number variations in CMT1X: a retrospective study. 162
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 161
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 152
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 146
The FIG4 gene does not play a major role in causing ALS in Italian patients. 142
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 132
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 128
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 128
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 115
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 112
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 106
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 104
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 103
Two families with novel PMP22 point mutations: genotype-phenotype correlation. 87
Case report: Episodic ataxia without ataxia? 84
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 84
null 43
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect 42
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 32
Totale 6.311
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Categoria #
all - tutte 20.964
article - articoli 20.964
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 41.928
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022346 0 0 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
2025/20261.936 266 74 125 137 283 115 269 98 124 191 138 116
2026/2027332 151 111 70 0 0 0 0 0 0 0 0 0
Totale 6.311