IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
EU - Europa 11.471
AS - Asia 1.391
NA - Nord America 640
SA - Sud America 117
AF - Africa 21
OC - Oceania 12
Totale 13.652
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Nazione #
IT - Italia 11.131
US - Stati Uniti d'America 609
SG - Singapore 573
CN - Cina 427
VN - Vietnam 228
FR - Francia 117
FI - Finlandia 72
CH - Svizzera 71
HK - Hong Kong 66
BR - Brasile 65
DE - Germania 32
AR - Argentina 22
MX - Messico 18
JP - Giappone 17
BD - Bangladesh 15
IQ - Iraq 12
AU - Australia 11
GB - Regno Unito 11
ID - Indonesia 8
IN - India 8
CA - Canada 6
ES - Italia 6
PK - Pakistan 6
PY - Paraguay 6
TH - Thailandia 6
CO - Colombia 5
EC - Ecuador 5
MA - Marocco 4
NL - Olanda 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
DO - Repubblica Dominicana 2
EG - Egitto 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
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
HN - Honduras 1
IL - Israele 1
JM - Giamaica 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
TR - Turchia 1
TW - Taiwan 1
YT - Mayotte 1
Totale 13.652
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Città #
Genova 5.976
Genoa 3.512
Vado Ligure 940
Rapallo 645
Singapore 214
San Jose 202
Ashburn 130
Lauterbourg 107
Helsinki 70
Ho Chi Minh City 70
Zurich 69
Council Bluffs 65
Hong Kong 63
Beijing 62
Hanoi 52
Frankfurt am Main 25
New York 25
Santa Clara 17
Tianjin 17
Los Angeles 15
Bordighera 10
Hải Dương 10
Haiphong 9
Tokyo 9
Mexico City 7
Milan 7
Des Moines 6
Indianapolis 6
Shanghai 6
Buffalo 5
Can Tho 5
Da Nang 5
Ninh Bình 5
Baghdad 4
Piscataway 4
Rome 4
Agadir 3
Amsterdam 3
Biên Hòa 3
Bristol 3
Buenos Aires 3
Bắc Ninh 3
Chicago 3
City of London 3
Dublin 3
Erbil 3
Guangzhou 3
Lima 3
Madrid 3
Montevideo 3
Nuremberg 3
Orem 3
Paris 3
Rio de Janeiro 3
Secaucus 3
Taranto 3
The Dalles 3
Vĩnh Long 3
Aryanah 2
Atlanta 2
Baku 2
Bangkok 2
Bogotá 2
Brasília 2
Bắc Giang 2
Cabo Frio 2
Cape Town 2
Caracas 2
Cardiff 2
Chavannes 2
Chennai 2
Chon Buri 2
Ciudad del Este 2
Iztapalapa 2
Jacksonville 2
Jeddah 2
La Paz 2
Lappeenranta 2
Medellín 2
New Delhi 2
Newark 2
Oslo 2
Phoenix 2
Porto Alegre 2
Quito 2
Quảng Ngãi 2
Salta 2
Santa Teresa di Riva 2
Spinea 2
Stockholm 2
Tashkent 2
Tân Tiến 2
Águas Lindas de Goiás 2
Aguascalientes 1
Ancol 1
Andorra la Vella 1
Angeles City 1
Angers 1
Anyang-si 1
Asunción 1
Totale 12.521
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Nome #
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 180
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 164
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 164
X-linked hypohidrotic ectodermal dysplasia: New features and a novel EDA gene mutation 160
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up 158
3T Double Inversion Recovery Magnetic Resonance Imaging: Diagnostic advantages in the evaluation of cortical development anomalies 154
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 153
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function 150
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 150
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea 149
Polygenic burden in focal and generalized epilepsies 148
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 147
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy 145
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 145
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation 144
Natural history of neurofibromatosis type 2 with onset before the age of 1 year 141
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype 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 140
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: A pilot study 137
Stickler syndrome associated with epilepsy: report of three cases 136
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 134
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 133
Adrenal disorders and the paediatric brain: Pathophysiological considerations and clinical implications 133
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 131
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 131
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 129
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 129
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 128
Zellweger syndrome and secondary mitochondrial myopathy 126
A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity 125
A review of copy number variants in inherited neuropathies 124
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 124
The Role of Visfatin in Pregnancy, Complications and Procreation 123
Evaluation of the basal ganglia in neurofibromatosis type 1 122
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography–case study 121
Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement 119
The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features 118
Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions 118
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 116
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 115
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 114
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 114
Pseudotumor cerebri pathophysiology: The likely role of aldosterone 114
Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment 114
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 114
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 114
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy 113
Association between maternal serum high mobility group box 1 levels and pregnancy complicated by gestational diabetes mellitus 112
New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children 111
Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns 111
Cutis tricolor: A literature review and report of five new cases 110
High-mobility group box 1 (HMGB1) in childhood: From bench to bedside 108
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome 106
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism 105
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 104
PKD or Not PKD: That is the question 104
Airways allergic inflammation and L. reuterii treatment in asthmatic children 104
Sudden cardiac arrest in a child with nemaline myopathy Critical Care 104
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study 104
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 103
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders 103
Mixed vascular nevus syndrome: A report of four new cases and a literature review 103
Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel's Syndrome 102
Reply: ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation 101
Recent Insights on Pediatric Pseudotumor Cerebri Syndrome Pathophysiology: From the Unifying Neuroendocrine Perspective to the Integrated Bioenergetic-Hormonal Mechanism" 101
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology 100
Pediatric stroke: Current diagnostic and management challenges 100
Kleine-Levin syndrome is associated with LMOD3 variants 100
Pediatric idiopathic intracranial hypertension and extreme childhood obesity: A role for weight gain 100
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 100
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency 99
The History of Pseudotumor Cerebri Syndrome among Courses and Recourses" 99
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 99
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia 98
Proteus syndrome: Evaluation of the immunological profile 98
Neurological Involvement in Inherited Metabolic Diseases: An Overview 98
Hyperphenylalaninemia: From Diagnosis to Therapy 98
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 97
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 97
Obesity and breastfeeding: The strength of association 97
Neuronopathic Gaucher Disease 97
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 97
Sputum high mobility group box-1 in asthmatic children: A noninvasive sensitive biomarker reflecting disease status 96
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 96
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly 95
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis 95
De novo variants in DENND5B cause a neurodevelopmental disorder 94
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A 94
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons 92
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response 92
Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis 91
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 90
Expanding the genetic heterogeneity of intellectual disability 89
Atopy as a risk factor for thyroid autoimmunity in children 88
Inflammatory biomarkers and intellectual disability in patients with Down syndrome 88
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency 88
Neurological Findings in Anderson-Fabry Disease 88
Prolactin in obese children: A bridge between inflammation and metabolic-endocrine dysfunction 87
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 86
Totale 11.512
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Categoria #
all - tutte 50.007
article - articoli 49.682
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 325
Totale 100.014
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021388 0 0 0 0 0 0 0 0 0 171 120 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
2025/20263.655 543 100 270 274 488 401 587 298 392 302 0 0
Totale 14.025