IRIS
SCALA, MARCELLO
 Distribuzione geografica
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Continente #
EU - Europa 3.190
Totale 3.190
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Nazione #
IT - Italia 3.190
Totale 3.190
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Città #
Genova 1.014
Vado Ligure 848
Genoa 837
Rapallo 473
Bordighera 18
Totale 3.190
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 145
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 130
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 121
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 110
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 107
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 104
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 92
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 89
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review 76
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 66
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 64
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 62
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 62
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 55
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 51
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 49
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 49
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
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 45
Translational and clinical research applications of exome sequencing to neurodevelopmental disorders of childhood 44
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 43
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome 43
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 42
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 41
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 39
Diagnostic Approach to Macrocephaly in Children 39
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 37
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 37
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 37
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 35
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability 35
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 35
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 35
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 33
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 32
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation 32
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" 32
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 31
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 30
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 30
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 29
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 29
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 28
Expanding the phenotype associated with biallelic SLC20A2 variants 28
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 26
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 26
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 26
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 25
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 23
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder 23
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 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
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 22
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 21
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 21
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 21
Electroclinical Features of Epilepsy in Kleefstra Syndrome 19
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 19
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 19
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 18
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy 18
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 17
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 16
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 16
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 16
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 16
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 16
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 15
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 15
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome 15
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 15
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 15
The Pathophysiological Link Between Reelin and Autism: Overview and New Insights 14
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 14
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 14
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 14
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review 14
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 13
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome 13
Radiation-Induced Moyamoya Syndrome After Proton Therapy in Child with Clival Chordoma: Natural History and Surgical Treatment 13
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 13
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 13
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 13
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 13
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 13
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 12
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities 12
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)) 12
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 11
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 11
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis 11
Spinal involvement in pediatric familial cavernous malformation syndrome 11
Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies 11
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke 10
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 9
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
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X 8
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 7
Totale 3.309
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Categoria #
all - tutte 19.630
article - articoli 19.476
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 39.106
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020204 0 0 0 0 0 25 50 27 37 35 20 10
2020/2021374 9 9 21 140 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
2024/2025961 131 150 44 153 250 233 0 0 0 0 0 0
Totale 3.366