IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
EU - Europa 11.147
AS - Asia 120
SA - Sud America 24
NA - Nord America 9
Totale 11.300
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Nazione #
IT - Italia 11.146
CN - Cina 88
BR - Brasile 20
VN - Vietnam 16
SG - Singapore 10
US - Stati Uniti d'America 8
ID - Indonesia 3
AR - Argentina 1
BD - Bangladesh 1
CL - Cile 1
EC - Ecuador 1
FR - Francia 1
HK - Hong Kong 1
MX - Messico 1
MY - Malesia 1
PY - Paraguay 1
Totale 11.300
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Città #
Genova 5.987
Genoa 3.533
Vado Ligure 947
Rapallo 661
Beijing 40
Bordighera 12
Ho Chi Minh City 8
Ashburn 6
Singapore 6
Milan 3
Brasília 2
Haiphong 2
Hải Dương 2
Ninh Bình 2
Santa Teresa di Riva 2
Ancol 1
Asunción 1
Bofete 1
Bom Princípio 1
Cabo Frio 1
Coelho Neto 1
Cícero Dantas 1
Des Moines 1
Franca 1
General Rodríguez 1
Gustavo Adolfo Madero 1
Hanoi 1
Hills 1
Hong Kong 1
Itaboraí 1
Itaquaquecetuba 1
Jiujiang 1
Kuala Selangor 1
Lagarto 1
Limeira 1
Makassar 1
Patos de Minas 1
Piracicaba 1
Porto Alegre 1
Praia Grande 1
Quito 1
Quảng Ngãi 1
Rio Novo do Sul 1
Rome 1
Samarinda 1
São Paulo 1
Valparaíso 1
Águas Lindas de Goiás 1
Totale 11.246
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Nome #
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 149
X-linked hypohidrotic ectodermal dysplasia: New features and a novel EDA gene mutation 144
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up 140
3T Double Inversion Recovery Magnetic Resonance Imaging: Diagnostic advantages in the evaluation of cortical development anomalies 135
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 131
Natural history of neurofibromatosis type 2 with onset before the age of 1 year 129
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 129
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 127
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function 125
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation 124
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy 124
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: A pilot study 122
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype 121
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 120
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 120
Stickler syndrome associated with epilepsy: report of three cases 119
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 119
Adrenal disorders and the paediatric brain: Pathophysiological considerations and clinical implications 116
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea 116
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 116
Zellweger syndrome and secondary mitochondrial myopathy 115
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 114
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 113
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 113
A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity 108
Evaluation of the basal ganglia in neurofibromatosis type 1 108
Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions 108
A review of copy number variants in inherited neuropathies 106
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 105
Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment 105
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 104
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography–case study 104
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 104
Polygenic burden in focal and generalized epilepsies 103
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 102
The Role of Visfatin in Pregnancy, Complications and Procreation 102
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 102
Pseudotumor cerebri pathophysiology: The likely role of aldosterone 100
New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children 99
Association between maternal serum high mobility group box 1 levels and pregnancy complicated by gestational diabetes mellitus 99
Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement 98
High-mobility group box 1 (HMGB1) in childhood: From bench to bedside 97
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 96
Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns 94
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 93
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism 93
Cutis tricolor: A literature review and report of five new cases 93
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 93
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study 92
The History of Pseudotumor Cerebri Syndrome among Courses and Recourses" 92
Recent Insights on Pediatric Pseudotumor Cerebri Syndrome Pathophysiology: From the Unifying Neuroendocrine Perspective to the Integrated Bioenergetic-Hormonal Mechanism" 91
The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features 90
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology 89
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders 89
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency 89
Sudden cardiac arrest in a child with nemaline myopathy Critical Care 89
Mixed vascular nevus syndrome: A report of four new cases and a literature review 89
Kleine-Levin syndrome is associated with LMOD3 variants 89
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 88
Pediatric stroke: Current diagnostic and management challenges 88
Reply: ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation 88
Pediatric idiopathic intracranial hypertension and extreme childhood obesity: A role for weight gain 87
Hyperphenylalaninemia: From Diagnosis to Therapy 87
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 86
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly 86
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 86
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 86
Airways allergic inflammation and L. reuterii treatment in asthmatic children 85
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy 85
Neurological Involvement in Inherited Metabolic Diseases: An Overview 85
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 85
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome 84
Sputum high mobility group box-1 in asthmatic children: A noninvasive sensitive biomarker reflecting disease status 84
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis 84
Proteus syndrome: Evaluation of the immunological profile 84
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 83
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia 83
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response 83
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 83
Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel's Syndrome 83
Neuronopathic Gaucher Disease 83
Obesity and breastfeeding: The strength of association 82
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A 81
Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders 81
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency 80
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 78
PKD or Not PKD: That is the question 78
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons 78
Subangular mandibular abscess as presentation of Kawasaki disease 78
High-mobility group protein B1: A new biomarker of metabolic syndrome in obese children 78
Inflammatory biomarkers and intellectual disability in patients with Down syndrome 78
Expanding the genetic heterogeneity of intellectual disability 78
Neurological Findings in Anderson-Fabry Disease 78
Prolactin in obese children: A bridge between inflammation and metabolic-endocrine dysfunction 77
Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis 74
Neurological Involvement in Tetrahydrobiopterin Deficiency 74
The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study 74
Atopy as a risk factor for thyroid autoimmunity in children 72
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 72
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 70
Totale 9.713
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Categoria #
all - tutte 46.273
article - articoli 45.968
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 305
Totale 92.546
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.009 0 0 0 0 53 196 137 134 101 171 120 97
2021/20221.347 83 55 92 113 38 63 60 321 170 121 71 160
2022/2023879 142 70 18 55 125 101 9 91 121 10 117 20
2023/2024682 31 79 20 85 35 98 22 32 44 27 64 145
2024/20252.540 69 162 41 105 364 308 217 406 158 149 258 303
2025/20261.234 546 100 271 275 42 0 0 0 0 0 0 0
Totale 11.661