IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
NA - Nord America 2.805
AS - Asia 1.502
EU - Europa 1.119
SA - Sud America 282
Continente sconosciuto - Info sul continente non disponibili 78
AF - Africa 31
OC - Oceania 2
Totale 5.819
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Nazione #
US - Stati Uniti d'America 2.712
SG - Singapore 721
RU - Federazione Russa 385
IT - Italia 364
CN - Cina 257
BR - Brasile 244
HK - Hong Kong 211
VN - Vietnam 149
DE - Germania 72
FR - Francia 68
IE - Irlanda 55
FI - Finlandia 49
CA - Canada 47
GB - Regno Unito 43
BD - Bangladesh 36
IN - India 21
NL - Olanda 16
JP - Giappone 14
ZA - Sudafrica 14
MX - Messico 12
IQ - Iraq 11
PL - Polonia 10
SE - Svezia 10
AR - Argentina 9
AT - Austria 9
TR - Turchia 8
UZ - Uzbekistan 8
AE - Emirati Arabi Uniti 7
CO - Colombia 7
HN - Honduras 7
MY - Malesia 7
EC - Ecuador 6
KR - Corea 6
LT - Lituania 6
NI - Nicaragua 6
PK - Pakistan 6
ES - Italia 5
ID - Indonesia 5
JM - Giamaica 5
PH - Filippine 5
VE - Venezuela 5
CL - Cile 4
EE - Estonia 4
GT - Guatemala 4
IL - Israele 4
MA - Marocco 4
RO - Romania 4
SA - Arabia Saudita 4
UA - Ucraina 4
AL - Albania 3
DZ - Algeria 3
LB - Libano 3
NP - Nepal 3
SC - Seychelles 3
SV - El Salvador 3
UY - Uruguay 3
BZ - Belize 2
CH - Svizzera 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
GE - Georgia 2
KG - Kirghizistan 2
PS - Palestinian Territory 2
PT - Portogallo 2
PY - Paraguay 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
AS - Samoa Americane 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
CG - Congo 1
CI - Costa d'Avorio 1
DK - Danimarca 1
EG - Egitto 1
GD - Grenada 1
HR - Croazia 1
JO - Giordania 1
KE - Kenya 1
KH - Cambogia 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
ME - Montenegro 1
MN - Mongolia 1
NG - Nigeria 1
PA - Panama 1
PE - Perù 1
QA - Qatar 1
SR - Suriname 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
TW - Taiwan 1
VC - Saint Vincent e Grenadine 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 5.742
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Città #
San Jose 508
Singapore 340
Dallas 307
Ashburn 305
Council Bluffs 261
Hong Kong 206
Santa Clara 200
Boardman 132
The Dalles 110
New York 105
Los Angeles 103
Moscow 74
Dublin 54
Milan 54
Lauterbourg 53
Hanoi 40
Ho Chi Minh City 38
Hefei 35
Munich 33
São Paulo 31
Beijing 30
L’Aquila 30
Columbus 27
Lappeenranta 26
Phoenix 26
Assago 24
Naples 23
North Bergen 21
Helsinki 16
San Francisco 16
Brooklyn 15
Rome 15
Chicago 14
Frankfurt am Main 14
Orem 14
Da Nang 13
Montreal 13
Rio de Janeiro 13
Tokyo 12
Shanghai 11
Bari 10
London 10
Pescara 10
Atlanta 9
Denver 9
Johannesburg 9
Miano 9
Stockholm 9
Warsaw 9
Belo Horizonte 8
Bologna 8
Toronto 8
Düsseldorf 7
Nuremberg 7
Tashkent 7
Charlotte 6
Managua 6
Mexico City 6
Mumbai 6
Philadelphia 6
Turin 6
Turku 6
Buffalo 5
Cape Town 5
Chennai 5
Falkenstein 5
Genoa 5
Houston 5
Manchester 5
Palermo 5
Piscataway 5
Porto Alegre 5
Reggio Emilia 5
Seoul 5
Washington 5
Amsterdam 4
Biên Hòa 4
Brasília 4
Catania 4
Dubai 4
Guangzhou 4
Guatemala City 4
Haiphong 4
Las Vegas 4
Ninh Bình 4
Pelotas 4
Pisa 4
Querétaro 4
Quito 4
Riyadh 4
San Antonio 4
San Pedro Sula 4
Vienna 4
Vilnius 4
Wuhan 4
Agrolândia 3
Ankara 3
Baghdad 3
Baltimore 3
Birmingham 3
Totale 3.693
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Nome #
Epilepsy in Joubert Syndrome: A Still Few Explored Matter 136
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation 131
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 123
Bardet{\textendash}Biedl Syndrome: A Brief Overview on Clinics and Genetics 112
Meckel Syndrome: A Clinical and Molecular Overview 110
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 103
Correction to: Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review 102
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 101
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 100
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy 100
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 99
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 98
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 98
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 97
Alström{\textquotesingle}s Syndrome: Neurological Manifestations and Genetics 95
Diagnostic Approach to Macrocephaly in Children 94
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights 93
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 93
Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review 91
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 91
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 90
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish 87
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 87
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 86
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 84
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 84
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 84
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis 84
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 84
Novel biallelic variants expand the phenotype of NAA20-related syndrome 84
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 83
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 83
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 81
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 77
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 77
Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy 77
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 75
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 74
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 74
Probiotics and Helicobacter pylori infection in children 74
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 74
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 73
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 73
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 71
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 71
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery 70
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome 69
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 69
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 69
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco 67
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders 66
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 66
Hydranencephaly in CENPJ-related Seckel syndrome 66
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 65
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 65
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 64
Atopy as a risk factor for thyroid autoimmunity in children 64
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 64
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 63
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 60
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 60
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 59
Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders 59
Mutations in TAF8 cause a neurodegenerative disorder 58
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 56
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 54
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 53
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 52
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 51
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 47
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 45
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 44
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders 42
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine 36
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 30
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders 28
Totale 5.819
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Categoria #
all - tutte 27.596
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 27.596
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2022/202346 0 0 0 0 1 0 4 0 37 0 4 0
2023/2024351 3 1 71 61 3 118 1 5 0 49 22 17
2024/20251.520 53 19 122 54 213 169 198 108 293 80 130 81
2025/20262.703 118 315 262 241 229 141 518 108 228 277 211 55
2026/20271.199 91 137 270 701 0 0 0 0 0 0 0 0
Totale 5.819