IRIS
IACOMINO, MICHELE
 Distribuzione geografica
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Continente #
EU - Europa 2.713
Totale 2.713
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Nazione #
IT - Italia 2.713
Totale 2.713
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Città #
Genova 1.142
Vado Ligure 567
Genoa 551
Rapallo 440
Bordighera 13
Totale 2.713
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 148
Clinical and molecular consequences of exon 78 deletion in DMD gene 141
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 129
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 124
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 117
White matter involvement in a family with a novel PDGFB mutation 108
Exome sequencing fails to identify the genetic cause of Aicardi syndrome 106
Chiari malformation type I: what information from the genetics? 105
IDENTIFICAZIONE DI NUOVI GENI RESPONSABILI DI MALATTIE RARE DEL NEUROSVILUPPO TRAMITE HOMOZYGOSITY MAPPING E/O SEQUENZIAMENTO DI NUOVA GENERAZIONE 104
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 104
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 99
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 87
Novel GABRG2 mutations cause familial febrile seizures 80
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 74
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 68
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 64
Novel TRIM32 mutation in sarcotubular myopathy 59
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 56
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 54
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 52
Distal motor neuropathy associated with novel EMILIN1 mutation 51
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 48
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 47
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 43
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 42
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 41
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 40
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 39
Vesicular glutamate release from feeder-free hiPSC-derived neurons 37
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 35
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 33
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 32
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 32
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 31
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 29
Expanding the phenotype associated with biallelic SLC20A2 variants 28
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 27
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 27
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 25
De novo GRIN2A variants associated with epilepsy and autism and literature review 24
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 23
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 22
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 21
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 20
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 20
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 14
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 14
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review 14
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 13
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 13
Hydranencephaly in CENPJ-related Seckel syndrome 12
Novel biallelic variants expand the phenotype of NAA20-related syndrome 12
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 9
Exome sequencing data screening to identify undiagnosed Aromatic L-amino acid decarboxylase deficiency in neurodevelopmental disorders 9
De novo variants in DENND5B cause a neurodevelopmental disorder 8
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 6
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 5
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 4
Totale 2.829
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Categoria #
all - tutte 14.097
article - articoli 13.828
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 27.925
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020296 0 0 0 0 0 0 71 59 49 66 35 16
2020/2021248 10 10 12 47 12 32 6 27 12 44 24 12
2021/2022382 23 12 16 25 26 20 29 69 35 52 30 45
2022/2023530 40 54 14 54 87 61 6 45 76 2 80 11
2023/2024439 25 30 12 55 42 89 29 27 18 19 37 56
2024/2025643 65 83 42 115 166 164 8 0 0 0 0 0
Totale 2.829