IRIS
SCALA, MARCELLO
 Distribuzione geografica
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Continente #
EU - Europa 5.897
AS - Asia 713
SA - Sud America 110
NA - Nord America 48
AF - Africa 10
OC - Oceania 1
Totale 6.779
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Nazione #
IT - Italia 5.854
SG - Singapore 293
CN - Cina 199
VN - Vietnam 169
BR - Brasile 62
US - Stati Uniti d'America 35
AR - Argentina 32
HK - Hong Kong 29
MX - Messico 10
DE - Germania 8
ID - Indonesia 6
FI - Finlandia 5
RU - Federazione Russa 5
EC - Ecuador 4
AT - Austria 3
CO - Colombia 3
IN - India 3
NL - Olanda 3
PE - Perù 3
RO - Romania 3
ZA - Sudafrica 3
BD - Bangladesh 2
CA - Canada 2
CH - Svizzera 2
CL - Cile 2
ES - Italia 2
FR - Francia 2
GB - Regno Unito 2
IL - Israele 2
IQ - Iraq 2
UY - Uruguay 2
VE - Venezuela 2
AL - Albania 1
AU - Australia 1
BH - Bahrain 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EG - Egitto 1
ET - Etiopia 1
IE - Irlanda 1
JO - Giordania 1
JP - Giappone 1
KR - Corea 1
KZ - Kazakistan 1
LB - Libano 1
LI - Liechtenstein 1
MA - Marocco 1
NG - Nigeria 1
NO - Norvegia 1
PK - Pakistan 1
RS - Serbia 1
SA - Arabia Saudita 1
SE - Svezia 1
SI - Slovenia 1
SN - Senegal 1
UA - Ucraina 1
Totale 6.779
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Città #
Genoa 3.488
Genova 1.014
Vado Ligure 834
Rapallo 473
Beijing 67
Ho Chi Minh City 62
Singapore 52
Hanoi 36
Hong Kong 29
Ashburn 19
Bordighera 18
Haiphong 11
Tianjin 10
Mexico City 9
Milan 7
Hải Dương 5
Quảng Ngãi 4
Thái Bình 4
Berlin 3
Biên Hòa 3
Brasília 3
Da Nang 3
Florence 3
Frankfurt am Main 3
Helsinki 3
Indaiatuba 3
Lấp Vò 3
Ninh Bình 3
Phủ Lý 3
Bologna 2
Bắc Ninh 2
Can Tho 2
Cao Lanh 2
Chavannes 2
Concepción 2
Córdoba 2
Formosa 2
Fulham 2
Guangzhou 2
Guarulhos 2
Jaguariúna 2
Los Angeles 2
Malang 2
Montevideo 2
Palermo 2
Porto Alegre 2
Quito 2
Quảng Nam Province 2
Santa Teresa di Riva 2
São Paulo 2
Thái Nguyên 2
Tây Ninh 2
Abidjan 1
Abuja 1
Aktau 1
Amman 1
Amparo 1
Anicuns 1
Apóstoles 1
Araruama 1
Ariquemes 1
Atlanta 1
Bauru 1
Bela Vista do Maranhão 1
Belgrade 1
Belo Horizonte 1
Belém 1
Bengaluru 1
Bogotá 1
Bucharest 1
Bình Dương 1
Cabo Frio 1
Campo Grande 1
Canoas 1
Canto do Buriti 1
Caraguatatuba 1
Cartagena 1
Casablanca 1
Caseros 1
Catriel 1
Cerquilho 1
Chelsea 1
Chennai 1
Chicago 1
Colorado 1
Corrientes 1
Curitiba 1
Dakar 1
Dallas 1
Diamantina 1
Diyarb Najm 1
Dnipro 1
Dolores 1
Dublin 1
Elk Grove Village 1
Felixlândia 1
General Pacheco 1
General Rodríguez 1
González Catán 1
Grajaú 1
Totale 6.269
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 199
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 170
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 169
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 148
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 126
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 124
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 123
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 117
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 117
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review 116
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 112
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 106
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 104
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 100
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 96
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 96
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 94
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 93
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 87
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 87
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 84
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 82
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 79
Diagnostic Approach to Macrocephaly in Children 75
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 74
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 73
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 71
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 69
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 67
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 66
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 66
De novo variants in DENND5B cause a neurodevelopmental disorder 66
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome 64
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 63
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 63
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 62
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 61
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 61
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 59
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 59
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 59
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 58
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 58
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 58
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 57
Expanding the phenotype associated with biallelic SLC20A2 variants 56
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 56
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 55
Translational and clinical research applications of exome sequencing to neurodevelopmental disorders of childhood 55
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 54
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 53
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 53
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 53
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 53
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 52
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 51
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy 50
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 50
Electroclinical Features of Epilepsy in Kleefstra Syndrome 49
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 49
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities 48
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects 48
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 46
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 46
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome 46
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 46
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 46
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 45
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 45
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 45
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 45
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia 45
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability 45
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 44
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" 43
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 42
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 42
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 42
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review 42
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 42
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation 42
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 40
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder 39
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 39
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 37
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 37
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 35
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 34
Radiation-Induced Moyamoya Syndrome After Proton Therapy in Child with Clival Chordoma: Natural History and Surgical Treatment 34
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 34
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 34
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)) 34
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 33
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome 32
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 32
Spinal involvement in pediatric familial cavernous malformation syndrome 32
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 31
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 31
Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies 31
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 26
Totale 6.407
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Categoria #
all - tutte 32.135
article - articoli 31.856
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 57
Totale 64.048
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021166 0 0 0 0 0 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
2023/2024696 46 81 31 102 59 90 40 44 32 35 52 84
2024/20252.405 130 149 42 152 245 248 207 416 143 140 272 261
2025/20262.201 546 104 315 405 730 101 0 0 0 0 0 0
Totale 7.009