MEI, DAVIDE
 Distribuzione geografica
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Continente #
NA - Nord America 2.156
EU - Europa 1.549
AS - Asia 1.439
SA - Sud America 244
AF - Africa 51
OC - Oceania 28
Totale 5.467
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Nazione #
US - Stati Uniti d'America 2.124
RU - Federazione Russa 580
SG - Singapore 432
CN - Cina 406
IT - Italia 211
BR - Brasile 191
DE - Germania 155
HK - Hong Kong 155
PL - Polonia 137
VN - Vietnam 134
KR - Corea 123
FI - Finlandia 115
IE - Irlanda 90
FR - Francia 66
SE - Svezia 59
BD - Bangladesh 42
CH - Svizzera 39
IN - India 33
GB - Regno Unito 30
AU - Australia 27
JP - Giappone 26
JO - Giordania 21
ZA - Sudafrica 17
CA - Canada 16
AT - Austria 15
AR - Argentina 13
EC - Ecuador 12
ID - Indonesia 12
ES - Italia 11
NL - Olanda 11
BE - Belgio 10
IQ - Iraq 10
MA - Marocco 9
MX - Messico 9
CI - Costa d'Avorio 8
CO - Colombia 8
NG - Nigeria 7
PY - Paraguay 6
UA - Ucraina 6
VE - Venezuela 6
AE - Emirati Arabi Uniti 5
NP - Nepal 5
TR - Turchia 5
CL - Cile 3
CZ - Repubblica Ceca 3
KZ - Kazakistan 3
PE - Perù 3
PK - Pakistan 3
PS - Palestinian Territory 3
SA - Arabia Saudita 3
SN - Senegal 3
CY - Cipro 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
EG - Egitto 2
IL - Israele 2
IR - Iran 2
LT - Lituania 2
PH - Filippine 2
PT - Portogallo 2
TH - Thailandia 2
TN - Tunisia 2
UZ - Uzbekistan 2
AZ - Azerbaigian 1
BG - Bulgaria 1
BJ - Benin 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CG - Congo 1
CR - Costa Rica 1
ET - Etiopia 1
IS - Islanda 1
JM - Giamaica 1
KG - Kirghizistan 1
LV - Lettonia 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PA - Panama 1
QA - Qatar 1
SM - San Marino 1
SR - Suriname 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
UY - Uruguay 1
Totale 5.467
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Città #
Santa Clara 594
Singapore 344
Ashburn 259
Hong Kong 140
Warsaw 135
Seoul 123
Hefei 118
Munich 113
Fairfield 110
San Jose 104
Dublin 90
Helsinki 78
Beijing 63
Woodbridge 58
Chandler 50
Houston 49
Cambridge 46
Ho Chi Minh City 43
Los Angeles 42
Dallas 41
Seattle 39
Bern 37
The Dalles 37
Lawrence 36
Altamura 32
Moscow 31
Ann Arbor 30
Lauterbourg 30
Wilmington 29
Council Bluffs 28
Florence 28
Melbourne 27
Hanoi 26
New York 24
Princeton 23
Boston 22
Buffalo 22
Kent 21
Frankfurt am Main 18
Tokyo 18
Paris 17
Mumbai 16
Turku 16
Rome 14
Shanghai 13
São Paulo 13
Johannesburg 12
Lappeenranta 12
Rio de Janeiro 12
Milan 11
Clifton 10
Jakarta 10
Orem 9
Tianjin 9
Abidjan 8
San Diego 8
West Jordan 8
Amman 7
Brasília 7
London 7
Pisa 7
Redondo Beach 7
Vienna 7
Barcelona 6
Biên Hòa 6
Chicago 6
Guangzhou 6
Medford 6
Nuremberg 6
Abuja 5
Baghdad 5
Belo Horizonte 5
Bengaluru 5
Brooklyn 5
Chennai 5
Jyväskylä 5
Montreal 5
Phoenix 5
Quito 5
Brussels 4
Casablanca 4
Da Nang 4
Dong Ket 4
Falls Church 4
Franca 4
Guarulhos 4
Lecce 4
North Bergen 4
Poplar 4
Ribeirão Preto 4
Stockholm 4
Thái Bình 4
Toronto 4
Amsterdam 3
Asunción 3
Biella 3
Boardman 3
Bogotá 3
Charlotte 3
Dakar 3
Totale 3.561
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Nome #
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations 324
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies 275
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy 216
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 211
Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series. 203
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol 192
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 186
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations 184
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 178
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 162
Morquio B disease: From pathophysiology towards diagnosis 152
Phenotypic spectrum of GABRA1 152
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: Rescue by antioxidants in a disease model 152
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene 150
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome 149
CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet 148
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 145
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 144
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome 141
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study 140
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature 133
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease 133
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations 132
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders 132
Polygenic burden in focal and generalized epilepsies 132
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 131
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice 127
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy 117
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life 113
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy 113
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants 112
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects 109
Steps to Improve Precision Medicine in Epilepsy. 104
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions 102
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis 83
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 25
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1 20
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes 18
Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase 17
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies 16
Clinical and molecular characterization of patients with YWHAG-related epilepsy 11
RICTOR variants are associated with neurodevelopmental disorders 11
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases 8
Developmental epileptic encephalopathy in DLG4-related synaptopathy 8
Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency 6
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures 5
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length 4
Totale 5.526
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Categoria #
all - tutte 16.203
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 16.203
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202112 0 0 0 0 0 0 0 0 0 0 0 12
2021/2022140 7 3 11 3 3 6 5 17 19 6 17 43
2022/2023423 36 79 32 9 14 56 55 29 47 11 16 39
2023/2024256 4 22 35 15 19 19 24 51 4 32 24 7
2024/20251.906 53 170 99 259 477 283 85 112 116 51 91 110
2025/20262.242 273 318 266 248 252 90 227 101 197 176 93 1
Totale 5.526