IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
EU - Europa 7.334
Totale 7.334
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Nazione #
IT - Italia 7.334
Totale 7.334
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Città #
Genova 5.987
Rapallo 671
Genoa 664
Bordighera 12
Totale 7.334
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Nome #
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 119
X-linked hypohidrotic ectodermal dysplasia: New features and a novel EDA gene mutation 103
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 99
3T Double Inversion Recovery Magnetic Resonance Imaging: Diagnostic advantages in the evaluation of cortical development anomalies 94
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up 94
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 92
Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment 92
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy 91
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 90
Natural history of neurofibromatosis type 2 with onset before the age of 1 year 90
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function 89
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 87
Zellweger syndrome and secondary mitochondrial myopathy 85
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 85
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: A pilot study 85
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 84
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 81
Stickler syndrome associated with epilepsy: report of three cases 80
Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions 79
Association between maternal serum high mobility group box 1 levels and pregnancy complicated by gestational diabetes mellitus 78
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 77
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 77
The Role of Visfatin in Pregnancy, Complications and Procreation 76
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology 74
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency 74
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 74
Adrenal disorders and the paediatric brain: Pathophysiological considerations and clinical implications 73
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea 73
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 73
Evaluation of the basal ganglia in neurofibromatosis type 1 73
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 73
Reply: ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation 72
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype 72
Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns 72
New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children 71
A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity 71
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders 70
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 70
Pediatric stroke: Current diagnostic and management challenges 70
A review of copy number variants in inherited neuropathies 70
Cutis tricolor: A literature review and report of five new cases 70
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study 70
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 70
The History of Pseudotumor Cerebri Syndrome among Courses and Recourses" 70
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia 69
Neurological Findings in Anderson-Fabry Disease 69
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly 68
Pseudotumor cerebri pathophysiology: The likely role of aldosterone 68
Sputum high mobility group box-1 in asthmatic children: A noninvasive sensitive biomarker reflecting disease status 68
The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features 68
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography–case study 68
Pediatric idiopathic intracranial hypertension and extreme childhood obesity: A role for weight gain 68
Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders 68
Recent Insights on Pediatric Pseudotumor Cerebri Syndrome Pathophysiology: From the Unifying Neuroendocrine Perspective to the Integrated Bioenergetic-Hormonal Mechanism" 68
Hyperphenylalaninemia: From Diagnosis to Therapy 68
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome 67
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis 67
Mixed vascular nevus syndrome: A report of four new cases and a literature review 67
Proteus syndrome: Evaluation of the immunological profile 67
Subangular mandibular abscess as presentation of Kawasaki disease 66
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy 66
Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement 66
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 65
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A 65
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation 65
Kleine-Levin syndrome is associated with LMOD3 variants 65
Prolactin in obese children: A bridge between inflammation and metabolic-endocrine dysfunction 64
Obesity and breastfeeding: The strength of association 64
Neurological Involvement in Inherited Metabolic Diseases: An Overview 64
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 64
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons 63
Neuronopathic Gaucher Disease 63
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency 63
PKD or Not PKD: That is the question 62
Inflammatory biomarkers and intellectual disability in patients with Down syndrome 62
Neurological Involvement in Tetrahydrobiopterin Deficiency 62
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism 61
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response 61
Expanding the genetic heterogeneity of intellectual disability 61
High-mobility group box 1 (HMGB1) in childhood: From bench to bedside 61
Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis 60
High-mobility group protein B1: A new biomarker of metabolic syndrome in obese children 60
Sudden cardiac arrest in a child with nemaline myopathy Critical Care 59
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 55
Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel's Syndrome 54
Polygenic burden in focal and generalized epilepsies 52
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 51
The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study 51
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 50
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 50
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 50
Pediatric Idiopathic Intracranial Hypertension: Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort 49
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 48
Atopy as a risk factor for thyroid autoimmunity in children 47
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 46
Airways allergic inflammation and L. reuterii treatment in asthmatic children 45
Delineation of the movement disorders associated with FOXG1 mutations 45
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 39
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 39
Totale 6.877
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Categoria #
all - tutte 26.816
article - articoli 26.615
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 201
Totale 53.632
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201911 0 0 0 0 0 0 0 0 0 2 5 4
2019/20203.362 2 32 10 97 415 450 652 449 365 507 326 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
2023/2024468 31 81 20 86 35 102 22 32 45 14 0 0
Totale 7.684