IRIS
SCALA, MARCELLO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 6.221
AS - Asia 1.745
NA - Nord America 730
SA - Sud America 172
AF - Africa 32
OC - Oceania 3
Totale 8.903
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 5.978
SG - Singapore 751
US - Stati Uniti d'America 689
CN - Cina 437
VN - Vietnam 319
BR - Brasile 96
HK - Hong Kong 74
FR - Francia 64
DE - Germania 41
AR - Argentina 37
JP - Giappone 31
GB - Regno Unito 26
IN - India 26
FI - Finlandia 25
MX - Messico 22
NL - Olanda 19
BD - Bangladesh 18
IQ - Iraq 16
CA - Canada 13
ID - Indonesia 12
EC - Ecuador 11
ZA - Sudafrica 10
PK - Pakistan 9
RU - Federazione Russa 8
PH - Filippine 7
AT - Austria 6
CL - Cile 6
ES - Italia 6
RO - Romania 6
AL - Albania 5
CH - Svizzera 5
IE - Irlanda 5
PL - Polonia 5
PY - Paraguay 5
SA - Arabia Saudita 5
TN - Tunisia 5
CO - Colombia 4
IL - Israele 4
JO - Giordania 4
MA - Marocco 4
PE - Perù 4
TR - Turchia 4
VE - Venezuela 4
DK - Danimarca 3
DZ - Algeria 3
KR - Corea 3
MY - Malesia 3
SE - Svezia 3
TH - Thailandia 3
UY - Uruguay 3
AU - Australia 2
BG - Bulgaria 2
BO - Bolivia 2
EG - Egitto 2
GR - Grecia 2
IR - Iran 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
OM - Oman 2
PT - Portogallo 2
RS - Serbia 2
TT - Trinidad e Tobago 2
UA - Ucraina 2
UZ - Uzbekistan 2
AE - Emirati Arabi Uniti 1
AZ - Azerbaigian 1
BH - Bahrain 1
CG - Congo 1
CI - Costa d'Avorio 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GE - Georgia 1
HN - Honduras 1
HU - Ungheria 1
KH - Cambogia 1
LI - Liechtenstein 1
LT - Lituania 1
LY - Libia 1
MM - Myanmar 1
NG - Nigeria 1
NI - Nicaragua 1
NO - Norvegia 1
NP - Nepal 1
PG - Papua Nuova Guinea 1
PS - Palestinian Territory 1
SI - Slovenia 1
SN - Senegal 1
SV - El Salvador 1
TW - Taiwan 1
Totale 8.903
Salva come PNG Salva come JPEG
Città #
Genoa 3.509
Genova 1.014
Vado Ligure 834
Rapallo 473
Singapore 340
San Jose 184
Ho Chi Minh City 103
Council Bluffs 79
Beijing 78
Hong Kong 73
Hanoi 72
Ashburn 68
Lauterbourg 51
New York 32
St Louis 30
Frankfurt am Main 29
Santa Clara 23
Tokyo 22
Haiphong 20
Milan 19
Bordighera 18
Chicago 16
Helsinki 16
Los Angeles 16
Rome 12
Mexico City 11
Tianjin 11
Bologna 9
City of London 9
Da Nang 9
Orem 9
Hải Dương 8
Lappeenranta 8
Bari 7
Florence 6
Guayaquil 6
Amsterdam 5
Atlanta 5
Brasília 5
Can Tho 5
Chennai 5
Montreal 5
Salt Lake City 5
São Paulo 5
Tirana 5
Biên Hòa 4
Buffalo 4
Dublin 4
Erbil 4
Guangzhou 4
Mumbai 4
Phủ Lý 4
Quảng Ngãi 4
San Francisco 4
Shanghai 4
Thái Bình 4
Warsaw 4
Acalanes Ridge 3
Amman 3
Bengaluru 3
Berlin 3
Bhopal 3
Bắc Ninh 3
Cardiff 3
Casablanca 3
Dallas 3
Durban 3
Fukuoka 3
Indaiatuba 3
Johannesburg 3
Lahore 3
Lấp Vò 3
Montevideo 3
Naples 3
Ninh Bình 3
Paris 3
Piscataway 3
Poplar 3
Quito 3
Rio de Janeiro 3
Stockholm 3
Thái Nguyên 3
Baghdad 2
Basra 2
Belgrade 2
Brugg 2
Cao Lanh 2
Chavannes 2
Concepción 2
Córdoba 2
Dhaka 2
Elk Grove Village 2
Formosa 2
Fulham 2
Gazipur 2
Guarulhos 2
Hamburg 2
Hyderabad 2
Itaquaquecetuba 2
Jaguariúna 2
Totale 7.428
Salva come PNG Salva come JPEG
Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 233
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 190
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 181
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 168
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 139
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 138
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review 134
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 131
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 131
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 131
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 130
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 129
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 122
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 114
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 113
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 113
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 110
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 108
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 107
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 104
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 103
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 96
De novo variants in DENND5B cause a neurodevelopmental disorder 94
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 91
Diagnostic Approach to Macrocephaly in Children 91
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 87
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 86
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 85
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 85
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 85
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 82
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 80
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 80
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 78
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome 78
Translational and clinical research applications of exome sequencing to neurodevelopmental disorders of childhood 78
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 77
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 75
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 75
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 74
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 72
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 72
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 71
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 71
Expanding the phenotype associated with biallelic SLC20A2 variants 70
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 70
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 70
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 70
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 70
Electroclinical Features of Epilepsy in Kleefstra Syndrome 68
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities 68
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 68
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 68
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects 67
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 67
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 65
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 65
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability 65
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 65
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 64
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 63
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 62
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 61
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 61
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy 60
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 59
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 59
Genome-wide association meta-analyses of drug-resistant epilepsy 58
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia 58
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 57
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 57
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 57
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 56
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 56
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 54
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 54
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review 54
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 53
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome 53
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" 52
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 51
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 50
An interconnected data infrastructure to support large-scale rare disease research 50
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation 50
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 50
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 49
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center 49
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 49
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 49
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)) 49
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 48
Spinal involvement in pediatric familial cavernous malformation syndrome 48
Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies 48
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 46
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder 46
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 45
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 42
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 41
Radiation-Induced Moyamoya Syndrome After Proton Therapy in Child with Clival Chordoma: Natural History and Surgical Treatment 41
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 41
Totale 7.858
Salva come PNG Salva come JPEG
Categoria #
all - tutte 35.616
article - articoli 35.253
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 102
Totale 70.971
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202179 0 0 0 0 0 0 0 0 0 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
2025/20264.358 546 104 315 405 730 357 637 313 515 436 0 0
Totale 9.166