IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
EU - Europa 11.590
AS - Asia 1.631
NA - Nord America 1.408
SA - Sud America 122
AF - Africa 22
OC - Oceania 13
Totale 14.786
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Nazione #
IT - Italia 11.242
US - Stati Uniti d'America 1.307
SG - Singapore 581
CN - Cina 467
VN - Vietnam 233
BD - Bangladesh 193
FR - Francia 117
FI - Finlandia 72
CH - Svizzera 71
HK - Hong Kong 71
BR - Brasile 67
CA - Canada 39
DE - Germania 34
AR - Argentina 22
JP - Giappone 19
MX - Messico 19
JM - Giamaica 13
AU - Australia 12
GB - Regno Unito 12
IQ - Iraq 12
ID - Indonesia 9
CR - Costa Rica 8
IN - India 8
ES - Italia 7
EC - Ecuador 6
NL - Olanda 6
PK - Pakistan 6
PY - Paraguay 6
TH - Thailandia 6
CO - Colombia 5
HN - Honduras 5
CL - Cile 4
GT - Guatemala 4
MA - Marocco 4
PE - Perù 4
TN - Tunisia 4
ZA - Sudafrica 4
BB - Barbados 3
BY - Bielorussia 3
IE - Irlanda 3
RO - Romania 3
RU - Federazione Russa 3
SA - Arabia Saudita 3
SE - Svezia 3
UY - Uruguay 3
UZ - Uzbekistan 3
VE - Venezuela 3
AT - Austria 2
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
BO - Bolivia 2
DO - Repubblica Dominicana 2
EG - Egitto 2
KR - Corea 2
LA - Repubblica Popolare Democratica del Laos 2
LY - Libia 2
NO - Norvegia 2
PL - Polonia 2
SV - El Salvador 2
SY - Repubblica araba siriana 2
AD - Andorra 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
BH - Bahrain 1
BZ - Belize 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DM - Dominica 1
DZ - Algeria 1
ET - Etiopia 1
GE - Georgia 1
GM - Gambi 1
GN - Guinea 1
IL - Israele 1
KG - Kirghizistan 1
KN - Saint Kitts e Nevis 1
KW - Kuwait 1
LK - Sri Lanka 1
MD - Moldavia 1
MY - Malesia 1
NG - Nigeria 1
NI - Nicaragua 1
PG - Papua Nuova Guinea 1
PH - Filippine 1
PR - Porto Rico 1
SI - Slovenia 1
TR - Turchia 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
UA - Ucraina 1
YT - Mayotte 1
Totale 14.786
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Città #
Genova 5.976
Genoa 3.514
Vado Ligure 940
Rapallo 645
San Jose 331
Singapore 220
Ashburn 212
Lauterbourg 107
Beijing 93
Ho Chi Minh City 72
Helsinki 70
Zurich 69
Hong Kong 68
Council Bluffs 65
New York 58
Hanoi 53
Los Angeles 38
Santa Clara 34
Frankfurt am Main 25
Milan 24
Rome 18
Tianjin 18
Dallas 14
Buffalo 13
Bordighera 10
Houston 10
Hải Dương 10
Haiphong 9
Montreal 9
Tokyo 9
Boardman 8
Mexico City 8
Chicago 7
Cincinnati 7
Kingston 7
Naples 7
Phoenix 7
Shanghai 7
Atlanta 6
Des Moines 6
Florence 6
Indianapolis 6
Newark 6
Piscataway 6
San José 6
Toronto 6
Can Tho 5
Da Nang 5
Jacksonville 5
Ninh Bình 5
Philadelphia 5
Secaucus 5
Baghdad 4
Brooklyn 4
Charlotte 4
Lima 4
Madrid 4
Portland 4
Queens 4
Rio de Janeiro 4
San Diego 4
Springfield 4
Tampa 4
Taranto 4
Turin 4
Agadir 3
Amsterdam 3
Anderson 3
Bari 3
Biên Hòa 3
Boydton 3
Bridgetown 3
Bristol 3
Buenos Aires 3
Bắc Ninh 3
City of London 3
Cleveland 3
Columbus 3
Dublin 3
Erbil 3
Guangzhou 3
Guatemala City 3
Irvington 3
Louisville 3
Memphis 3
Miami 3
Milwaukee 3
Montevideo 3
Nuremberg 3
Orangeburg 3
Orem 3
Palermo 3
Paris 3
Providence 3
Quito 3
Seattle 3
The Dalles 3
Vĩnh Long 3
Washington 3
Allentown 2
Totale 13.026
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Nome #
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 192
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 183
Cutis tricolor: A literature review and report of five new cases 179
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 176
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 172
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 170
X-linked hypohidrotic ectodermal dysplasia: New features and a novel EDA gene mutation 168
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 163
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 163
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up 163
3T Double Inversion Recovery Magnetic Resonance Imaging: Diagnostic advantages in the evaluation of cortical development anomalies 162
Polygenic burden in focal and generalized epilepsies 158
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function 156
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea 156
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 156
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation 151
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype 151
Natural history of neurofibromatosis type 2 with onset before the age of 1 year 148
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy 147
Adrenal disorders and the paediatric brain: Pathophysiological considerations and clinical implications 145
Accessory oral cavity associated with duplication of the tongue and the mandible in a newborn: A rare case of Diprosopus. Multi-row detector computed tomography diagnostic role 145
Stickler syndrome associated with epilepsy: report of three cases 144
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 144
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 141
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 140
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: A pilot study 139
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 138
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 138
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 137
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 135
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry 133
A review of copy number variants in inherited neuropathies 133
Zellweger syndrome and secondary mitochondrial myopathy 132
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography–case study 132
The Role of Visfatin in Pregnancy, Complications and Procreation 132
A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity 129
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 128
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 128
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy 127
Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions 127
Evaluation of the basal ganglia in neurofibromatosis type 1 126
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 124
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 121
New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children 121
Pseudotumor cerebri pathophysiology: The likely role of aldosterone 121
The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features 121
Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement 121
Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment 121
Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns 120
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 120
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 119
Association between maternal serum high mobility group box 1 levels and pregnancy complicated by gestational diabetes mellitus 117
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 116
High-mobility group box 1 (HMGB1) in childhood: From bench to bedside 115
Mixed vascular nevus syndrome: A report of four new cases and a literature review 114
Sudden cardiac arrest in a child with nemaline myopathy Critical Care 113
Endocrinopathies, metabolic disorders, and iron overload in major and intermedia thalassemia: Serum ferritin as diagnostic and predictive marker associated with liver and cardiac T2* MRI assessment 113
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 112
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism 110
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 110
Airways allergic inflammation and L. reuterii treatment in asthmatic children 109
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 109
Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis 108
PKD or Not PKD: That is the question 108
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome 108
Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel's Syndrome 108
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study 108
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders 107
Pediatric idiopathic intracranial hypertension and extreme childhood obesity: A role for weight gain 107
Recent Insights on Pediatric Pseudotumor Cerebri Syndrome Pathophysiology: From the Unifying Neuroendocrine Perspective to the Integrated Bioenergetic-Hormonal Mechanism" 107
Hyperphenylalaninemia: From Diagnosis to Therapy 106
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 105
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology 105
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency 105
The History of Pseudotumor Cerebri Syndrome among Courses and Recourses" 105
Pediatric stroke: Current diagnostic and management challenges 104
Kleine-Levin syndrome is associated with LMOD3 variants 104
Reply: ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation 104
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 104
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 103
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly 103
Neuronopathic Gaucher Disease 103
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons 102
Prolactin in obese children: A bridge between inflammation and metabolic-endocrine dysfunction 102
Obesity and breastfeeding: The strength of association 102
Neurological Involvement in Inherited Metabolic Diseases: An Overview 102
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia 101
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis 101
Proteus syndrome: Evaluation of the immunological profile 101
De novo variants in DENND5B cause a neurodevelopmental disorder 99
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 99
Sputum high mobility group box-1 in asthmatic children: A noninvasive sensitive biomarker reflecting disease status 98
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response 98
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency 98
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A 96
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach 95
Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders 94
High-mobility group protein B1: A new biomarker of metabolic syndrome in obese children 93
Expanding the genetic heterogeneity of intellectual disability 93
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 93
Totale 12.413
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Categoria #
all - tutte 55.333
article - articoli 54.983
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 350
Totale 110.666
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.335 83 55 90 113 36 63 60 319 169 119 70 158
2022/2023862 141 67 17 54 122 101 9 87 118 10 116 20
2023/2024673 31 77 20 84 35 95 22 30 44 27 64 144
2024/20252.521 69 161 41 102 363 306 216 403 154 149 257 300
2025/20264.454 543 100 270 274 488 401 587 298 392 376 300 425
2026/2027344 344 0 0 0 0 0 0 0 0 0 0 0
Totale 15.168