IRIS
IACOMINO, MICHELE
 Distribuzione geografica
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Continente #
EU - Europa 2.211
Totale 2.211
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Nazione #
IT - Italia 2.211
Totale 2.211
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Città #
Genova 1.201
Genoa 539
Rapallo 458
Bordighera 13
Totale 2.211
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Nome #
Clinical and molecular consequences of exon 78 deletion in DMD gene 123
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 117
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 111
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 110
White matter involvement in a family with a novel PDGFB mutation 100
Exome sequencing fails to identify the genetic cause of Aicardi syndrome 99
Chiari malformation type I: what information from the genetics? 96
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 94
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 93
IDENTIFICAZIONE DI NUOVI GENI RESPONSABILI DI MALATTIE RARE DEL NEUROSVILUPPO TRAMITE HOMOZYGOSITY MAPPING E/O SEQUENZIAMENTO DI NUOVA GENERAZIONE 86
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 81
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 79
Novel GABRG2 mutations cause familial febrile seizures 73
Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies 61
Emerging treatments for progressive myoclonus epilepsies 58
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 57
Novel TRIM32 mutation in sarcotubular myopathy 52
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 47
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 47
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs 46
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 45
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 41
Distal motor neuropathy associated with novel EMILIN1 mutation 40
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 40
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 36
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission 34
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 32
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 30
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 28
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 27
Vesicular glutamate release from feeder-free hiPSC-derived neurons 27
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 26
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 26
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 26
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 24
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 20
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 20
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 20
De novo GRIN2A variants associated with epilepsy and autism and literature review 16
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 15
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 15
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 14
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 12
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 11
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 9
Expanding the phenotype associated with biallelic SLC20A2 variants 9
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 8
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 7
Hydranencephaly in CENPJ-related Seckel syndrome 6
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 5
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review 5
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 4
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 3
Exome sequencing data screening to identify undiagnosed Aromatic L-amino acid decarboxylase deficiency in neurodevelopmental disorders 3
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 2
Totale 2.316
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Categoria #
all - tutte 10.740
article - articoli 10.514
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 21.254
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020446 12 11 10 30 39 48 71 59 49 66 35 16
2020/2021289 10 10 16 65 12 34 9 29 15 49 26 14
2021/2022402 23 12 16 25 28 22 31 73 36 57 30 49
2022/2023554 42 56 15 57 91 64 6 46 79 2 85 11
2023/2024455 25 31 13 57 45 90 29 27 20 20 38 60
2024/202529 29 0 0 0 0 0 0 0 0 0 0 0
Totale 2.316