IRIS
DE GRANDIS, ELISA
 Distribuzione geografica
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Continente #
EU - Europa 4.139
Totale 4.139
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Nazione #
IT - Italia 4.139
Totale 4.139
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Città #
Genova 3.066
Genoa 544
Rapallo 503
Bordighera 26
Totale 4.139
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Nome #
Movement lateralization and bimanual coordination in children with Tourette syndrome. 147
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients 131
Efficacious vitamin E treatment in a child with ataxia with isolatedvitamin E deficiency 130
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? 129
Congenital neuroblastoma with symptoms of epidural compression at birth 129
Response to rituximab in 3 children with opsoclonus-myoclonus syndrome resistant to conventional treatments. 127
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 119
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype 117
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 112
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 109
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients 107
Distinct neurological disorders with ATP1A3 mutations 106
Lack of SLC2A1 (Glucose Transporter 1) Mutations in 30 Italian Patients With Alternating Hemiplegia of Childhood. 105
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. 105
MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. 104
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol 103
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism 100
Childhood thalidomide neuropathy: a clinical and neurophysiologic study. 96
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 96
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases 94
Early-onset neurodegeneration with brain iron accumulationdue to PANK2 mutation 94
A UHPLC–MS/MS method for the quantification of Δ9-tetrahydrocannabinol and cannabidiol in decoctions and in plasma samples for therapeutic monitoring of medical cannabis 92
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. 86
Pediatric Neuroblastoma-Associated Opsoclonus-Myoclonus-Ataxia Syndrome: Early Diagnosis 81
Synchronization and continuation: Analysis of repetitive finger movements in patients with Tourette syndrome 81
A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam. 80
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 79
Molecular study and response to levodopa therapy in eight children with tyrosine hydroxylase deficiency 78
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders. 77
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 71
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients 68
Paroxysmal dyskinesiawith interictal myoclonus and dystonia: a report of two cases. 64
Secondary dopamine and serotonine deficiencies in children with movement disorders 63
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern 60
CEREBRAL FOLATE DEFICIENCY AND DISEASES OF THE CENTRAL NERVOUS SYSTEM IN CHILDHOOD 58
White matter and cerebellar involvement in alternating hemiplegia of childhood 56
USE OF RITUXIMAB IN THE TREATMENT OF THE SYNDROME OPSOMIOCLONIC. EXPERIENCE IN THE G. GASLINI INSTITUTE 55
Leucomalacia periventricolare ed encefalopatia epilettica con punte-onda continue in sonno lento 53
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study 52
Immunological mechanisms inopsoclonus-myoclonus associated neuroblastoma 51
Restless legs may be associatedwith the post-polio syndrome. 50
Opsoclonus-myoclonus-atassia syndrome: Neuropsychological and neuroradiological series 50
[Acute urinary retention in a child with acute disseminatedencephalomyelitis] 43
CASK related disorder: Epilepsy and developmental outcome 43
Impact of the COVID-19 Outbreak on the Behavior of Families in Italy: A Focus on Children and Adolescents 39
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review 37
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 34
Safety and pharmacokinetics of medical cannabis preparation in a monocentric series of young patients with drug resistant epilepsy 33
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration 32
Stress symptoms and Coronavirus disease 2019 (COVID-19): a comparative study between Attention Deficit Hyperactivity Disorder and typically developing children and adolescents 27
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors: A multicenter cohort study on Sydenham's chorea 27
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
Erratum: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010)) 21
PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti 19
Sleep Disturbances in Pediatric Craniopharyngioma: A Systematic Review 18
Influence of isolated low-grade intracranial haemorrhages on the neurodevelopmental outcome of infants born very low birthweight 15
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 13
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 9
Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis 8
Correlations between Sleep Features and Iron Status in Children with Neurodevelopmental Disorders: A Cross-Sectional Study 7
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood 7
Autism spectrum disorders in a population of very low birth weght: Causes and consequences 5
Multidirectional Nystagmus as the Presenting Sign of Brain Tumor with Hydrocephalus 5
LOW-GRADE IVH AND LOW-GRADE CBH: WHICH INFLUENCE ON GRIFFITHS SCORE AT 2 YEARS OF AGE? 5
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 4
Impatto della pandemia da COVID-19 sull’andamento dei ricoveri di un reparto di Neuropsichiatria Infantile di terzo livello. 4
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 4
PATTERN OF NEURODEVELOPMENTAL OUT- COME AT 2 YEARS OF CORRECTED AGE (CA) IN ISOLATED LOW-GRADE INTRA- VENTRICULAR HEMORRHAGES VS LOW- GRADE CEREBELLAR HEMORRHAGES 3
Electroclinical Features of Epilepsy in Kleefstra Syndrome 3
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The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders 2
Long-term follow-up of neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome 2
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 1
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease 1
Totale 4.288
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Categoria #
all - tutte 13.246
article - articoli 12.821
book - libri 0
conference - conferenze 140
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 285
Totale 26.492
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019155 0 0 0 0 0 0 0 0 0 0 88 67
2019/20201.284 61 33 32 62 145 134 246 105 122 191 112 41
2020/2021469 29 41 20 93 25 15 31 51 21 71 31 41
2021/2022585 20 22 51 56 28 41 24 129 37 68 23 86
2022/2023604 51 62 6 53 107 79 2 54 98 2 77 13
2023/2024495 37 58 28 63 31 126 44 40 32 36 0 0
Totale 4.288