IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
NA - Nord America 2.125
AS - Asia 1.489
EU - Europa 841
SA - Sud America 271
Continente sconosciuto - Info sul continente non disponibili 78
AF - Africa 28
OC - Oceania 1
Totale 4.833
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Nazione #
US - Stati Uniti d'America 2.068
SG - Singapore 721
RU - Federazione Russa 376
CN - Cina 255
BR - Brasile 238
HK - Hong Kong 210
VN - Vietnam 149
IT - Italia 129
DE - Germania 70
FR - Francia 66
IE - Irlanda 54
FI - Finlandia 49
BD - Bangladesh 36
GB - Regno Unito 30
CA - Canada 26
IN - India 20
NL - Olanda 15
JP - Giappone 14
ZA - Sudafrica 14
MX - Messico 12
IQ - Iraq 11
PL - Polonia 10
SE - Svezia 10
AT - Austria 9
AR - Argentina 8
UZ - Uzbekistan 8
MY - Malesia 7
AE - Emirati Arabi Uniti 6
KR - Corea 6
EC - Ecuador 5
ID - Indonesia 5
PH - Filippine 5
PK - Pakistan 5
TR - Turchia 5
VE - Venezuela 5
CL - Cile 4
CO - Colombia 4
ES - Italia 4
HN - Honduras 4
JM - Giamaica 4
MA - Marocco 4
NI - Nicaragua 4
SA - Arabia Saudita 4
AL - Albania 3
LB - Libano 3
NP - Nepal 3
UY - Uruguay 3
CH - Svizzera 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
GE - Georgia 2
GT - Guatemala 2
KG - Kirghizistan 2
LT - Lituania 2
PS - Palestinian Territory 2
PT - Portogallo 2
PY - Paraguay 2
TN - Tunisia 2
UA - Ucraina 2
AU - Australia 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BZ - Belize 1
CG - Congo 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
EG - Egitto 1
GD - Grenada 1
HR - Croazia 1
IL - Israele 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
RO - Romania 1
SC - Seychelles 1
SR - Suriname 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 4.756
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Città #
San Jose 423
Singapore 340
Dallas 301
Ashburn 205
Hong Kong 205
Santa Clara 183
Boardman 132
Council Bluffs 119
The Dalles 108
New York 101
Los Angeles 99
Moscow 74
Dublin 54
Lauterbourg 53
Hanoi 40
Ho Chi Minh City 38
Hefei 35
Munich 33
L’Aquila 30
Beijing 29
São Paulo 29
Lappeenranta 26
Columbus 25
Assago 24
Phoenix 20
Helsinki 16
Frankfurt am Main 14
Orem 14
San Francisco 14
Brooklyn 13
Da Nang 13
Montreal 13
Rio de Janeiro 13
Tokyo 12
Shanghai 11
Pescara 10
Atlanta 9
Chicago 9
Denver 9
Johannesburg 9
London 9
Stockholm 9
Warsaw 9
Bari 8
Belo Horizonte 8
Milan 8
Düsseldorf 7
Nuremberg 7
Tashkent 7
Mexico City 6
Turku 6
Cape Town 5
Charlotte 5
Chennai 5
Falkenstein 5
Houston 5
Manchester 5
Mumbai 5
Porto Alegre 5
Rome 5
Seoul 5
Toronto 5
Amsterdam 4
Biên Hòa 4
Guangzhou 4
Haiphong 4
Managua 4
Ninh Bình 4
Pelotas 4
Piscataway 4
Querétaro 4
Riyadh 4
Vienna 4
Washington 4
Wuhan 4
Ankara 3
Baghdad 3
Bogotá 3
Boston 3
Brasília 3
Buffalo 3
Bắc Giang 3
Dhaka 3
Dubai 3
Hải Dương 3
Jequié 3
Kirkuk 3
Kuala Lumpur 3
Lahore 3
Montevideo 3
Naples 3
New Delhi 3
Portsmouth 3
Quito 3
Raleigh 3
Santo André 3
Tegucigalpa 3
Turin 3
Alegre 2
Asunción 2
Totale 3.169
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Nome #
Epilepsy in Joubert Syndrome: A Still Few Explored Matter 116
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation 111
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 107
Bardet{\textendash}Biedl Syndrome: A Brief Overview on Clinics and Genetics 101
Meckel Syndrome: A Clinical and Molecular Overview 93
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 93
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 90
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 89
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 87
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy 85
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 84
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 84
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights 82
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 81
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 80
Alström{\textquotesingle}s Syndrome: Neurological Manifestations and Genetics 80
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 80
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 79
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 78
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 75
Novel biallelic variants expand the phenotype of NAA20-related syndrome 75
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 74
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 72
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 72
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish 72
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis 72
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 71
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 68
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 68
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 67
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 67
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 67
Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy 67
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 66
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 65
Diagnostic Approach to Macrocephaly in Children 65
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 63
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 62
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 61
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 61
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 61
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco 61
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 59
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome 58
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery 56
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 55
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 55
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 55
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 55
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 55
Hydranencephaly in CENPJ-related Seckel syndrome 54
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 53
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 53
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 52
Probiotics and Helicobacter pylori infection in children 52
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 51
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 51
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 51
Atopy as a risk factor for thyroid autoimmunity in children 51
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 49
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 48
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 48
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders 47
Mutations in TAF8 cause a neurodegenerative disorder 47
Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders 43
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 43
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 42
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 41
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 41
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 41
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 39
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 34
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders 34
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine 30
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 22
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders 16
Totale 4.833
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Categoria #
all - tutte 25.044
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 25.044
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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
2026/2027213 91 122 0 0 0 0 0 0 0 0 0 0
Totale 4.833