IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
EU - Europa 11.510
AS - Asia 1.505
NA - Nord America 1.005
SA - Sud America 117
AF - Africa 21
OC - Oceania 13
Totale 14.171
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Nazione #
IT - Italia 11.166
US - Stati Uniti d'America 946
SG - Singapore 581
CN - Cina 460
VN - Vietnam 228
FR - Francia 117
BD - Bangladesh 84
FI - Finlandia 72
CH - Svizzera 71
HK - Hong Kong 69
BR - Brasile 65
DE - Germania 34
CA - Canada 24
AR - Argentina 22
MX - Messico 19
JP - Giappone 18
AU - Australia 12
IQ - Iraq 12
GB - Regno Unito 11
ID - Indonesia 8
IN - India 8
ES - Italia 6
NL - Olanda 6
PK - Pakistan 6
PY - Paraguay 6
TH - Thailandia 6
CO - Colombia 5
EC - Ecuador 5
JM - Giamaica 5
MA - Marocco 4
ZA - Sudafrica 4
CL - Cile 3
IE - Irlanda 3
PE - Perù 3
RO - Romania 3
RU - Federazione Russa 3
SA - Arabia Saudita 3
SE - Svezia 3
TN - Tunisia 3
UY - Uruguay 3
UZ - Uzbekistan 3
VE - Venezuela 3
AT - Austria 2
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
BO - Bolivia 2
BY - Bielorussia 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
EG - Egitto 2
HN - Honduras 2
KR - Corea 2
LY - Libia 2
NO - Norvegia 2
PL - Polonia 2
SY - Repubblica araba siriana 2
AD - Andorra 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
BB - Barbados 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
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 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
SI - Slovenia 1
SV - El Salvador 1
TR - Turchia 1
TW - Taiwan 1
YT - Mayotte 1
Totale 14.171
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Città #
Genova 5.976
Genoa 3.513
Vado Ligure 940
Rapallo 645
San Jose 277
Singapore 220
Ashburn 164
Lauterbourg 107
Beijing 87
Helsinki 70
Ho Chi Minh City 70
Zurich 69
Hong Kong 66
Council Bluffs 65
Hanoi 52
New York 50
Santa Clara 26
Frankfurt am Main 25
Los Angeles 22
Tianjin 18
Rome 13
Bordighera 10
Hải Dương 10
Milan 10
Buffalo 9
Haiphong 9
Tokyo 9
Dallas 8
Mexico City 8
Boardman 7
Montreal 7
Des Moines 6
Indianapolis 6
Piscataway 6
Shanghai 6
Can Tho 5
Chicago 5
Cincinnati 5
Da Nang 5
Ninh Bình 5
Baghdad 4
Houston 4
Phoenix 4
Secaucus 4
Taranto 4
Agadir 3
Amsterdam 3
Atlanta 3
Biên Hòa 3
Bristol 3
Buenos Aires 3
Bắc Ninh 3
Charlotte 3
City of London 3
Dublin 3
Erbil 3
Florence 3
Guangzhou 3
Jacksonville 3
Lima 3
Louisville 3
Madrid 3
Memphis 3
Montevideo 3
Naples 3
Newark 3
Nuremberg 3
Orem 3
Paris 3
Rio de Janeiro 3
The Dalles 3
Toronto 3
Vĩnh Long 3
Aryanah 2
Baku 2
Bangkok 2
Bogotá 2
Bologna 2
Boston 2
Brasília 2
Bắc Giang 2
Cabo Frio 2
Cape Town 2
Caracas 2
Cardiff 2
Changsha 2
Chavannes 2
Chennai 2
Chon Buri 2
Ciudad del Este 2
Columbus 2
Hollidaysburg 2
Iztapalapa 2
Jeddah 2
Kingston 2
La Paz 2
Lappeenranta 2
Lexington 2
Medellín 2
Munich 2
Totale 12.769
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Nome #
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 186
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 174
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 165
X-linked hypohidrotic ectodermal dysplasia: New features and a novel EDA gene mutation 164
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 162
3T Double Inversion Recovery Magnetic Resonance Imaging: Diagnostic advantages in the evaluation of cortical development anomalies 160
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 160
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up 159
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 158
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 154
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea 154
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function 153
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 152
Polygenic burden in focal and generalized epilepsies 151
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation 148
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy 146
Natural history of neurofibromatosis type 2 with onset before the age of 1 year 146
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype 145
Stickler syndrome associated with epilepsy: report of three cases 141
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 141
Adrenal disorders and the paediatric brain: Pathophysiological considerations and clinical implications 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 137
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 136
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 136
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 136
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 135
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 133
A review of copy number variants in inherited neuropathies 131
Zellweger syndrome and secondary mitochondrial myopathy 129
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 129
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 128
A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity 128
The Role of Visfatin in Pregnancy, Complications and Procreation 128
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography–case study 127
Evaluation of the basal ganglia in neurofibromatosis type 1 126
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 123
Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions 123
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 122
Cutis tricolor: A literature review and report of five new cases 122
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 121
Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement 120
The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features 119
New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children 117
Pseudotumor cerebri pathophysiology: The likely role of aldosterone 117
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 116
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy 116
Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment 115
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 115
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 114
Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns 114
Association between maternal serum high mobility group box 1 levels and pregnancy complicated by gestational diabetes mellitus 113
High-mobility group box 1 (HMGB1) in childhood: From bench to bedside 109
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 108
Airways allergic inflammation and L. reuterii treatment in asthmatic children 108
Sudden cardiac arrest in a child with nemaline myopathy Critical Care 108
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 107
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome 107
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism 107
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 107
Mixed vascular nevus syndrome: A report of four new cases and a literature review 106
PKD or Not PKD: That is the question 105
Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel's Syndrome 105
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study 105
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders 104
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 103
Pediatric idiopathic intracranial hypertension and extreme childhood obesity: A role for weight gain 103
Kleine-Levin syndrome is associated with LMOD3 variants 102
Reply: ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation 102
Recent Insights on Pediatric Pseudotumor Cerebri Syndrome Pathophysiology: From the Unifying Neuroendocrine Perspective to the Integrated Bioenergetic-Hormonal Mechanism" 102
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology 101
Obesity and breastfeeding: The strength of association 101
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 101
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency 100
Pediatric stroke: Current diagnostic and management challenges 100
Proteus syndrome: Evaluation of the immunological profile 100
The History of Pseudotumor Cerebri Syndrome among Courses and Recourses" 100
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 100
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia 99
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly 99
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 99
Neuronopathic Gaucher Disease 99
Neurological Involvement in Inherited Metabolic Diseases: An Overview 99
Hyperphenylalaninemia: From Diagnosis to Therapy 99
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 98
De novo variants in DENND5B cause a neurodevelopmental disorder 98
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 98
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons 97
Sputum high mobility group box-1 in asthmatic children: A noninvasive sensitive biomarker reflecting disease status 96
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis 96
Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis 94
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A 94
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response 93
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency 93
High-mobility group protein B1: A new biomarker of metabolic syndrome in obese children 91
Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders 91
Atopy as a risk factor for thyroid autoimmunity in children 90
Prolactin in obese children: A bridge between inflammation and metabolic-endocrine dysfunction 90
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 89
Expanding the genetic heterogeneity of intellectual disability 89
Totale 11.916
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Categoria #
all - tutte 52.491
article - articoli 52.152
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 339
Totale 104.982
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202197 0 0 0 0 0 0 0 0 0 0 0 97
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
2025/20264.182 543 100 270 274 488 401 587 298 392 376 300 153
Totale 14.552