IRIS
GEROLDI, ALESSANDRO
 Distribuzione geografica
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Continente #
EU - Europa 4.691
AS - Asia 665
NA - Nord America 575
SA - Sud America 63
AF - Africa 14
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.013
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Nazione #
IT - Italia 4.578
US - Stati Uniti d'America 529
SG - Singapore 240
CN - Cina 156
VN - Vietnam 120
BD - Bangladesh 75
FR - Francia 34
BR - Brasile 33
CA - Canada 20
HK - Hong Kong 20
NL - Olanda 17
FI - Finlandia 12
AR - Argentina 10
ES - Italia 9
MX - Messico 9
DE - Germania 8
EC - Ecuador 7
GB - Regno Unito 7
CO - Colombia 6
IQ - Iraq 6
JM - Giamaica 6
JP - Giappone 6
PH - Filippine 6
IN - India 5
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
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 6.013
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Città #
Genova 2.042
Genoa 1.644
Rapallo 423
Vado Ligure 365
San Jose 120
Singapore 113
Ashburn 90
Beijing 45
Ho Chi Minh City 41
Hanoi 33
Lauterbourg 29
New York 26
Council Bluffs 23
Los Angeles 18
Hong Kong 17
Santa Clara 14
Bordighera 12
Milan 12
Helsinki 10
Phoenix 9
Orem 8
Buffalo 7
Montreal 7
Dallas 6
Frankfurt am Main 6
Mexico City 6
Rome 6
Amsterdam 5
Da Nang 5
Haiphong 5
Kingston 5
Tokyo 5
Baghdad 4
Breda 4
Chicago 4
São Paulo 4
Alessandria 3
Bagno a Ripoli 3
Bari 3
Boardman 3
City of London 3
Houston 3
Huntsville 3
Madrid 3
Managua 3
Naples 3
Nashville 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
Curitiba 2
Dearborn 2
Dublin 2
Guatemala City 2
Harrison 2
Jeddah 2
Lappeenranta 2
Las Vegas 2
Midland 2
Novate Milanese 2
Philadelphia 2
Phúc Yên 2
Queens 2
Quận Bình Thạnh 2
Rosario 2
San Bernardino 2
San Francisco 2
Santiago 2
Shanghai 2
Shenzhen 2
Tashkent 2
Temecula 2
Tirana 2
Abbeville 1
Accra 1
Akron 1
Allentown 1
Almaty 1
Ambato 1
Amman 1
Anaheim 1
Arroyito 1
Asunción 1
Athens 1
Augusta 1
Avon Lake 1
Totale 5.303
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Nome #
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 234
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 230
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 216
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 208
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. 201
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 197
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 197
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 193
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 193
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 192
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 182
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 180
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 177
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 175
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 175
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 170
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 166
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 165
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 163
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 162
Contribution of copy number variations in CMT1X: a retrospective study. 161
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 160
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 155
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 149
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 143
The FIG4 gene does not play a major role in causing ALS in Italian patients. 141
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 127
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 125
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 122
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 111
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 106
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 102
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 100
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 99
Two families with novel PMP22 point mutations: genotype-phenotype correlation. 87
Case report: Episodic ataxia without ataxia? 82
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 62
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Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 30
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect 12
Totale 6.128
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Categoria #
all - tutte 20.085
article - articoli 20.085
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 40.170
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20261.947 266 74 125 137 283 115 269 98 124 191 140 125
2026/2027138 138 0 0 0 0 0 0 0 0 0 0 0
Totale 6.128