IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
EU - Europa 8.586
Totale 8.586
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Nazione #
IT - Italia 8.586
Totale 8.586
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Città #
Genova 5.987
Genoa 963
Vado Ligure 953
Rapallo 671
Bordighera 12
Totale 8.586
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Nome #
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 125
X-linked hypohidrotic ectodermal dysplasia: New features and a novel EDA gene mutation 118
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up 109
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 109
3T Double Inversion Recovery Magnetic Resonance Imaging: Diagnostic advantages in the evaluation of cortical development anomalies 107
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 104
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 104
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy 102
Natural history of neurofibromatosis type 2 with onset before the age of 1 year 101
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function 99
Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment 99
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 98
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: A pilot study 98
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 95
Zellweger syndrome and secondary mitochondrial myopathy 94
Stickler syndrome associated with epilepsy: report of three cases 94
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 92
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 92
Adrenal disorders and the paediatric brain: Pathophysiological considerations and clinical implications 91
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 91
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 91
Association between maternal serum high mobility group box 1 levels and pregnancy complicated by gestational diabetes mellitus 89
Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions 89
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 87
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype 86
The Role of Visfatin in Pregnancy, Complications and Procreation 86
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea 85
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation 84
Evaluation of the basal ganglia in neurofibromatosis type 1 83
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 82
A review of copy number variants in inherited neuropathies 82
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 82
Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns 82
New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children 81
A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity 81
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 81
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology 80
Cutis tricolor: A literature review and report of five new cases 80
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders 79
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency 79
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study 79
Reply: ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation 78
The History of Pseudotumor Cerebri Syndrome among Courses and Recourses" 78
Sputum high mobility group box-1 in asthmatic children: A noninvasive sensitive biomarker reflecting disease status 77
Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement 77
Pseudotumor cerebri pathophysiology: The likely role of aldosterone 76
The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features 76
Pediatric stroke: Current diagnostic and management challenges 76
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography–case study 76
Pediatric idiopathic intracranial hypertension and extreme childhood obesity: A role for weight gain 76
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 76
Recent Insights on Pediatric Pseudotumor Cerebri Syndrome Pathophysiology: From the Unifying Neuroendocrine Perspective to the Integrated Bioenergetic-Hormonal Mechanism" 76
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis 75
Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders 75
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome 74
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A 74
Proteus syndrome: Evaluation of the immunological profile 74
Neurological Involvement in Inherited Metabolic Diseases: An Overview 74
Neurological Findings in Anderson-Fabry Disease 74
Hyperphenylalaninemia: From Diagnosis to Therapy 74
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia 73
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly 73
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 73
Mixed vascular nevus syndrome: A report of four new cases and a literature review 73
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 73
Subangular mandibular abscess as presentation of Kawasaki disease 72
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy 72
Obesity and breastfeeding: The strength of association 72
Kleine-Levin syndrome is associated with LMOD3 variants 72
Neuronopathic Gaucher Disease 72
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism 71
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency 71
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons 70
Prolactin in obese children: A bridge between inflammation and metabolic-endocrine dysfunction 70
Polygenic burden in focal and generalized epilepsies 70
Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis 69
Sudden cardiac arrest in a child with nemaline myopathy Critical Care 69
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response 69
High-mobility group box 1 (HMGB1) in childhood: From bench to bedside 69
PKD or Not PKD: That is the question 67
Inflammatory biomarkers and intellectual disability in patients with Down syndrome 67
Expanding the genetic heterogeneity of intellectual disability 67
Neurological Involvement in Tetrahydrobiopterin Deficiency 67
High-mobility group protein B1: A new biomarker of metabolic syndrome in obese children 66
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 65
Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel's Syndrome 64
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 64
Atopy as a risk factor for thyroid autoimmunity in children 62
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 62
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 61
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 59
Airways allergic inflammation and L. reuterii treatment in asthmatic children 58
The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study 57
Pediatric Idiopathic Intracranial Hypertension: Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort 55
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13 54
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 54
Delineation of the movement disorders associated with FOXG1 mutations 51
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 48
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach 46
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 45
Totale 7.798
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Categoria #
all - tutte 34.534
article - articoli 34.292
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 242
Totale 69.068
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.806 0 0 0 0 0 450 652 449 365 507 326 57
2020/20211.602 125 67 128 273 53 196 137 134 101 171 120 97
2021/20221.347 83 55 92 113 38 63 60 321 170 121 71 160
2022/2023890 142 70 18 55 127 101 9 93 125 10 120 20
2023/2024691 31 81 20 86 35 101 22 32 45 27 66 145
2024/20251.040 69 163 42 107 365 294 0 0 0 0 0 0
Totale 8.947