IRIS
PISCIOTTA, LIVIA
 Distribuzione geografica
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Continente #
EU - Europa 1.264
Totale 1.264
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Nazione #
IT - Italia 1.264
Totale 1.264
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Città #
Genova 703
Genoa 283
Rapallo 270
Bordighera 8
Totale 1.264
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Nome #
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients 131
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 114
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 96
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 95
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases 94
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 79
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 71
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern 60
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 59
White matter and cerebellar involvement in alternating hemiplegia of childhood 56
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 55
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study 52
Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches 51
CASK related disorder: Epilepsy and developmental outcome 43
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances 42
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review 37
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 35
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 34
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 26
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 23
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). 23
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 21
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 19
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 4
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 4
Totale 1.324
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Categoria #
all - tutte 5.554
article - articoli 4.803
book - libri 0
conference - conferenze 545
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 10.902
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201918 0 0 0 0 0 0 0 0 0 0 10 8
2019/2020236 16 6 5 9 34 31 38 22 24 27 17 7
2020/2021237 6 19 3 94 20 0 10 25 6 34 9 11
2021/2022243 20 13 2 15 30 19 3 43 18 32 8 40
2022/2023323 28 43 5 26 34 45 5 28 50 2 51 6
2023/2024244 12 20 1 34 13 76 30 17 19 22 0 0
Totale 1.324