IRIS
SCALA, MARCELLO
 Distribuzione geografica
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Continente #
EU - Europa 6.362
AS - Asia 2.032
NA - Nord America 1.350
SA - Sud America 172
AF - Africa 32
OC - Oceania 3
Totale 9.951
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Nazione #
IT - Italia 6.109
US - Stati Uniti d'America 1.258
SG - Singapore 762
CN - Cina 475
VN - Vietnam 320
BD - Bangladesh 250
BR - Brasile 96
HK - Hong Kong 76
FR - Francia 65
CA - Canada 42
DE - Germania 41
AR - Argentina 37
JP - Giappone 32
GB - Regno Unito 29
IN - India 26
FI - Finlandia 25
MX - Messico 25
NL - Olanda 22
IQ - Iraq 16
ID - Indonesia 12
EC - Ecuador 11
ZA - Sudafrica 10
PK - Pakistan 9
RU - Federazione Russa 8
JM - Giamaica 7
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
MY - Malesia 4
PE - Perù 4
SV - El Salvador 4
TR - Turchia 4
TT - Trinidad e Tobago 4
VE - Venezuela 4
DK - Danimarca 3
DZ - Algeria 3
KR - Corea 3
PR - Porto Rico 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
MD - Moldavia 2
NI - Nicaragua 2
NP - Nepal 2
OM - Oman 2
PT - Portogallo 2
RS - Serbia 2
UA - Ucraina 2
UZ - Uzbekistan 2
AE - Emirati Arabi Uniti 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BZ - Belize 1
CG - Congo 1
CI - Costa d'Avorio 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GE - Georgia 1
GT - Guatemala 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
NO - Norvegia 1
PG - Papua Nuova Guinea 1
PS - Palestinian Territory 1
SI - Slovenia 1
SN - Senegal 1
TW - Taiwan 1
VI - Stati Uniti Isole Vergini 1
Totale 9.951
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Città #
Genoa 3.515
Genova 1.014
Vado Ligure 834
Rapallo 473
Singapore 348
San Jose 332
Ashburn 113
Ho Chi Minh City 104
Beijing 95
Council Bluffs 81
New York 78
Hong Kong 75
Hanoi 72
Lauterbourg 51
Los Angeles 38
Milan 31
Santa Clara 30
St Louis 30
Frankfurt am Main 29
Rome 25
Boardman 24
Tokyo 22
Chicago 21
Haiphong 20
Bordighera 18
Dallas 16
Helsinki 16
Buffalo 15
Mexico City 14
Montreal 13
Bologna 12
Tianjin 12
Orem 10
Atlanta 9
City of London 9
Da Nang 9
Naples 9
Bari 8
Hải Dương 8
Lappeenranta 8
San Francisco 8
Florence 7
Boston 6
Guayaquil 6
Piscataway 6
Acalanes Ridge 5
Amsterdam 5
Brasília 5
Can Tho 5
Chennai 5
Jersey City 5
Phoenix 5
Salt Lake City 5
São Paulo 5
Tirana 5
Toronto 5
Verona 5
Biên Hòa 4
Charlotte 4
Dublin 4
Elk Grove Village 4
Erbil 4
Guangzhou 4
Houston 4
Kingston 4
London 4
Mumbai 4
Palermo 4
Phủ Lý 4
Quảng Ngãi 4
Shanghai 4
Thái Bình 4
Trento 4
Warsaw 4
Amman 3
Aurora 3
Bengaluru 3
Berlin 3
Bhopal 3
Bắc Ninh 3
Cardiff 3
Casablanca 3
Cincinnati 3
Detroit 3
Durban 3
Fukuoka 3
Indaiatuba 3
Jacksonville 3
Johannesburg 3
Lahore 3
Lấp Vò 3
Montevideo 3
Newark 3
Ninh Bình 3
Padua 3
Paris 3
Poplar 3
Quito 3
Rio de Janeiro 3
San Salvador 3
Totale 7.880
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 237
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 198
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 186
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 183
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 171
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 168
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 142
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 141
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review 140
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 136
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 136
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 134
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 134
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 133
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 123
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 117
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 117
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 116
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 115
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 114
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 111
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 109
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 108
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 107
Diagnostic Approach to Macrocephaly in Children 107
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 102
De novo variants in DENND5B cause a neurodevelopmental disorder 98
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 97
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 96
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 94
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 93
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 91
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 90
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 88
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 87
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 87
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 86
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 85
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities 85
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome 85
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 83
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 83
Translational and clinical research applications of exome sequencing to neurodevelopmental disorders of childhood 83
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 79
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 77
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia 77
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 76
Electroclinical Features of Epilepsy in Kleefstra Syndrome 75
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 75
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 74
Expanding the phenotype associated with biallelic SLC20A2 variants 73
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 73
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 73
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects 72
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 72
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 71
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 70
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 70
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 69
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 68
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 68
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 67
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 66
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 66
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 66
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability 66
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants 65
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 65
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder 64
Genome-wide association meta-analyses of drug-resistant epilepsy 63
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy 63
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 63
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 62
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review 62
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 62
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 62
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 62
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome 60
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 60
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 59
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center 57
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 56
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 56
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 55
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" 55
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)) 55
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 54
An interconnected data infrastructure to support large-scale rare disease research 53
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 53
Spinal involvement in pediatric familial cavernous malformation syndrome 53
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 52
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 52
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation 52
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 50
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 50
Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies 49
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 48
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 45
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 44
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome 43
Totale 8.643
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Categoria #
all - tutte 38.757
article - articoli 38.346
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 133
Totale 77.236
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202116 0 0 0 0 0 0 0 0 0 0 0 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
2025/20265.428 546 104 315 405 730 357 637 313 515 527 617 362
Totale 10.236