IRIS UniCatt

Marangi, Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 4.162
EU - Europa 3.821
AS - Asia 2.651
SA - Sud America 526
AF - Africa 80
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 5
Totale 11.255
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Nazione #
US - Stati Uniti d'America 4.049
DE - Germania 1.355
SG - Singapore 1.274
CN - Cina 746
SE - Svezia 614
IT - Italia 529
BR - Brasile 437
UA - Ucraina 306
FR - Francia 199
GB - Regno Unito 165
IE - Irlanda 145
VN - Vietnam 124
FI - Finlandia 112
PL - Polonia 111
ID - Indonesia 95
IN - India 91
RU - Federazione Russa 79
CA - Canada 57
TR - Turchia 51
NL - Olanda 47
JP - Giappone 46
BE - Belgio 39
BD - Bangladesh 34
MX - Messico 34
AR - Argentina 31
HK - Hong Kong 31
ZA - Sudafrica 26
AT - Austria 24
CI - Costa d'Avorio 21
IQ - Iraq 19
KR - Corea 18
PK - Pakistan 18
ES - Italia 17
CH - Svizzera 14
AE - Emirati Arabi Uniti 13
CL - Cile 13
PT - Portogallo 13
SA - Arabia Saudita 12
EC - Ecuador 9
RO - Romania 9
UZ - Uzbekistan 9
VE - Venezuela 9
IL - Israele 8
IR - Iran 8
KZ - Kazakistan 8
UY - Uruguay 8
AU - Australia 7
CO - Colombia 7
GR - Grecia 7
JO - Giordania 7
MA - Marocco 7
PY - Paraguay 6
AZ - Azerbaigian 5
KE - Kenya 5
LT - Lituania 5
NO - Norvegia 5
NP - Nepal 5
TH - Thailandia 5
CZ - Repubblica Ceca 4
DK - Danimarca 4
EG - Egitto 4
PE - Perù 4
TT - Trinidad e Tobago 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AL - Albania 3
BB - Barbados 3
DZ - Algeria 3
HN - Honduras 3
LB - Libano 3
MT - Malta 3
TN - Tunisia 3
TW - Taiwan 3
AM - Armenia 2
BY - Bielorussia 2
BZ - Belize 2
CR - Costa Rica 2
CY - Cipro 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
HU - Ungheria 2
JM - Giamaica 2
KG - Kirghizistan 2
LV - Lettonia 2
MN - Mongolia 2
NZ - Nuova Zelanda 2
OM - Oman 2
PH - Filippine 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CG - Congo 1
EU - Europa 1
GA - Gabon 1
GI - Gibilterra 1
GM - Gambi 1
GY - Guiana 1
HR - Croazia 1
IS - Islanda 1
Totale 11.238
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Città #
Chandler 641
Singapore 617
Ashburn 470
Ann Arbor 155
New York 149
Beijing 143
Dublin 141
Jacksonville 140
San Mateo 131
Nürnberg 102
Los Angeles 99
Woodbridge 99
Nanjing 98
Wilmington 93
Houston 92
Milan 92
Warsaw 92
Jakarta 91
Redmond 91
Cattolica 90
Boston 74
Rome 69
Fairfield 64
Dearborn 63
Seattle 63
Hefei 62
Munich 58
Frankfurt am Main 56
São Paulo 55
Moscow 51
Nanchang 48
Lawrence 46
Redwood City 43
Hanoi 39
Marseille 38
Ho Chi Minh City 33
Detroit 31
Helsinki 31
Tokyo 31
Hangzhou 29
Izmir 29
Princeton 29
Buffalo 27
Nuremberg 27
Santa Clara 27
Hong Kong 26
North Bergen 25
Shenyang 25
Bremen 24
Brussels 23
Changsha 22
London 22
Mountain View 22
Abidjan 21
Dallas 21
Denver 21
The Dalles 21
Tianjin 21
Boardman 20
Lappeenranta 20
Norwalk 20
Stockholm 20
Guangzhou 19
Seoul 18
Atlanta 17
Cambridge 17
Fremont 17
Kent 17
Phoenix 17
Brooklyn 16
Chicago 16
Kunming 16
Poplar 16
University Park 16
Waanrode 16
Chennai 14
Johannesburg 14
Pune 13
Mexico City 12
San Francisco 12
Toronto 12
Zhengzhou 12
Montreal 11
Ottawa 11
Vienna 11
Auburn Hills 10
Belo Horizonte 10
Brasília 10
Düsseldorf 10
Lancaster 10
Bexley 9
Busto Arsizio 9
Charlotte 9
Hebei 9
Jiaxing 9
Lauterbourg 9
Rio de Janeiro 9
Roubaix 9
Trieste 9
Curitiba 8
Totale 5.602
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Nome #
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 322
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 290
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 243
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 229
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 208
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 189
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 187
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 175
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 173
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 168
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 166
A Genome-wide Association Study of Myasthenia Gravis 165
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 160
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 159
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 159
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 159
Matrin 3 variants are frequent in Italian ALS patients 158
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 157
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 155
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 148
How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons 146
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 146
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 145
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 145
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 145
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 142
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 142
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders 142
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 140
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 140
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 139
A novel L67P SOD1 mutation in an Italian ALS patient. 136
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 136
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 135
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 134
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 134
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family 134
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 134
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 133
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 133
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 132
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 128
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 128
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 126
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 125
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 121
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 120
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 119
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 118
Origin of celiac disease: How old are predisposing haplotypes? 117
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 117
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 116
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 115
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 113
HFE p.H63D polymorphism does not influence ALS phenotype and survival 112
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014 112
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 111
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 110
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 110
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 109
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 108
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 108
Is MED13L-related intellectual disability a recognizable syndrome? 106
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 104
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 103
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 102
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 102
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 99
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8 98
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 96
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 96
Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples 95
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 91
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia 87
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge 86
Analysis of STMN2 CA repeats in italian ALS patients shows no association 84
SYT1-associated neurodevelopmental disorder: A case series 80
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 76
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 74
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 70
Exploring the Role of CCNF Variants in Italian ALS Patients 69
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 69
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 69
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges 68
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay 64
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 63
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 62
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges 48
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders 44
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 41
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy 9
The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure 4
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data 3
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study 2
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Totale 11.392
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Categoria #
all - tutte 46.884
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.884
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021376 0 0 0 0 0 36 80 15 85 49 99 12
2021/2022841 83 103 21 97 21 18 14 123 45 44 111 161
2022/20231.715 221 268 142 269 91 213 77 129 172 45 54 34
2023/2024994 42 233 36 62 42 210 64 45 13 43 93 111
2024/20251.694 41 55 118 72 151 73 60 71 248 150 363 292
2025/20262.514 632 126 219 552 934 51 0 0 0 0 0 0
Totale 11.392