IRIS
SCALA, MARCELLO
 Distribuzione geografica
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Continente #
EU - Europa 5.857
AS - Asia 63
SA - Sud America 2
NA - Nord America 1
Totale 5.923
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Nazione #
IT - Italia 5.850
CN - Cina 55
SG - Singapore 7
DE - Germania 3
GB - Regno Unito 2
BR - Brasile 1
CA - Canada 1
CL - Cile 1
FI - Finlandia 1
HK - Hong Kong 1
UA - Ucraina 1
Totale 5.923
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Città #
Genoa 3.492
Genova 1.014
Vado Ligure 848
Rapallo 473
Beijing 25
Bordighera 18
Berlin 3
Milan 3
Fulham 2
Santa Teresa di Riva 2
Dnipro 1
Grajaú 1
Hong Kong 1
Lappeenranta 1
Puente Alto 1
Singapore 1
Toronto 1
Totale 5.887
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 188
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 163
When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience 160
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 137
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 124
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 119
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 113
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review 112
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 112
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 109
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 100
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 100
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 94
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 92
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 88
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 88
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 88
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 85
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 80
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 78
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 76
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 76
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 72
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 71
Diagnostic Approach to Macrocephaly in Children 68
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 64
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 63
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 63
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 62
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 60
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 58
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 58
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome 58
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 57
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 56
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 55
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 55
Translational and clinical research applications of exome sequencing to neurodevelopmental disorders of childhood 55
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 53
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 53
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 53
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 52
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 51
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 51
De novo variants in DENND5B cause a neurodevelopmental disorder 51
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 51
Expanding the phenotype associated with biallelic SLC20A2 variants 50
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 50
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 50
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 49
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 46
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 46
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 46
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 46
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy 46
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 46
Electroclinical Features of Epilepsy in Kleefstra Syndrome 45
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability 44
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 44
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 43
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 43
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" 43
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 43
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 42
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 42
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities 41
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 41
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation 40
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 39
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects 39
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia 39
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder 38
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 37
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 37
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome 37
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 37
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 36
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 36
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 35
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review 35
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 35
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 34
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 33
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 32
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 31
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 31
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 31
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 30
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 30
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 30
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome 29
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 29
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 29
Radiation-Induced Moyamoya Syndrome After Proton Therapy in Child with Clival Chordoma: Natural History and Surgical Treatment 28
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 28
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 25
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 25
Spinal involvement in pediatric familial cavernous malformation syndrome 24
Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies 24
The Pathophysiological Link Between Reelin and Autism: Overview and New Insights 23
Totale 5.784
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Categoria #
all - tutte 29.623
article - articoli 29.409
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2
Totale 59.034
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021335 0 0 0 140 29 18 8 50 11 44 19 16
2021/2022395 25 47 9 19 25 23 14 67 32 60 14 60
2022/2023629 46 58 10 42 83 71 3 49 97 12 144 14
2023/2024698 46 81 31 102 59 91 41 44 32 35 52 84
2024/20252.433 131 150 44 153 250 255 209 417 143 143 272 266
2025/20261.309 550 104 316 339 0 0 0 0 0 0 0 0
Totale 6.147