IRIS UniCatt

Marangi, Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 5.268
EU - Europa 4.142
AS - Asia 3.444
SA - Sud America 599
AF - Africa 103
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 5
Totale 13.572
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Nazione #
US - Stati Uniti d'America 5.121
SG - Singapore 1.554
DE - Germania 1.379
CN - Cina 827
IT - Italia 638
SE - Svezia 616
BR - Brasile 487
VN - Vietnam 337
UA - Ucraina 311
FR - Francia 302
GB - Regno Unito 179
IE - Irlanda 151
FI - Finlandia 140
PL - Polonia 114
IN - India 109
ID - Indonesia 98
JP - Giappone 84
BD - Bangladesh 82
RU - Federazione Russa 82
HK - Hong Kong 75
CA - Canada 73
TR - Turchia 63
NL - Olanda 54
BE - Belgio 42
MX - Messico 42
AR - Argentina 38
ZA - Sudafrica 32
IQ - Iraq 31
PK - Pakistan 29
AT - Austria 24
ES - Italia 22
CI - Costa d'Avorio 21
SA - Arabia Saudita 21
KR - Corea 20
CH - Svizzera 16
AE - Emirati Arabi Uniti 15
CO - Colombia 15
PT - Portogallo 14
CL - Cile 13
UZ - Uzbekistan 13
MA - Marocco 11
VE - Venezuela 11
EC - Ecuador 10
JO - Giordania 10
RO - Romania 10
IL - Israele 9
PY - Paraguay 9
TN - Tunisia 9
AU - Australia 8
GR - Grecia 8
IR - Iran 8
KE - Kenya 8
KZ - Kazakistan 8
UY - Uruguay 8
NP - Nepal 7
TH - Thailandia 7
AZ - Azerbaigian 6
PE - Perù 6
DK - Danimarca 5
DZ - Algeria 5
JM - Giamaica 5
LT - Lituania 5
NO - Norvegia 5
PH - Filippine 5
AL - Albania 4
CZ - Repubblica Ceca 4
EG - Egitto 4
HN - Honduras 4
TT - Trinidad e Tobago 4
A2 - ???statistics.table.value.countryCode.A2??? 3
BB - Barbados 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
KG - Kirghizistan 3
LB - Libano 3
MM - Myanmar 3
MT - Malta 3
NI - Nicaragua 3
SN - Senegal 3
TW - Taiwan 3
AM - Armenia 2
BY - Bielorussia 2
BZ - Belize 2
CY - Cipro 2
ET - Etiopia 2
HR - Croazia 2
HU - Ungheria 2
LV - Lettonia 2
MN - Mongolia 2
NZ - Nuova Zelanda 2
OM - Oman 2
SV - El Salvador 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
Totale 13.552
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Città #
Singapore 868
Chandler 641
Ashburn 623
San Jose 493
New York 181
Ann Arbor 155
Beijing 147
Dublin 145
Jacksonville 140
San Mateo 131
Los Angeles 118
Ho Chi Minh City 102
Nürnberg 102
Rome 102
Woodbridge 99
Nanjing 98
Houston 95
Milan 94
Warsaw 94
Wilmington 93
Hanoi 92
Jakarta 91
Redmond 91
Cattolica 90
Lauterbourg 90
Frankfurt am Main 77
Boston 76
Tokyo 68
Fairfield 64
Seattle 64
Dearborn 63
São Paulo 63
Hefei 62
Munich 59
Helsinki 55
Hong Kong 55
Moscow 51
Nanchang 48
Lawrence 46
Santa Clara 46
Redwood City 43
Marseille 39
The Dalles 34
Chicago 33
Buffalo 31
Detroit 31
Hangzhou 31
Izmir 29
Princeton 29
Dallas 27
Nuremberg 27
Boardman 25
Bremen 25
Denver 25
North Bergen 25
Shenyang 25
Lappeenranta 24
London 24
Brussels 23
Changsha 23
Brooklyn 22
Council Bluffs 22
Mountain View 22
Stockholm 22
Abidjan 21
Atlanta 21
Orem 21
Tianjin 21
Guangzhou 20
Norwalk 20
Kent 19
Seoul 18
Cambridge 17
Chennai 17
Fremont 17
Johannesburg 17
Paris 17
Phoenix 17
Poplar 17
Kunming 16
Montreal 16
Shanghai 16
University Park 16
Waanrode 16
Mexico City 15
Charlotte 14
Pune 13
Da Nang 12
Haiphong 12
Ottawa 12
Rio de Janeiro 12
San Francisco 12
Toronto 12
Zhengzhou 12
Baghdad 11
Brasília 11
Tashkent 11
Vienna 11
Amman 10
Auburn Hills 10
Totale 7.083
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Nome #
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 391
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 318
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 268
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 250
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 242
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 219
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 214
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 207
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 201
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 200
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 197
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 195
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 191
How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons 189
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 187
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 184
Matrin 3 variants are frequent in Italian ALS patients 183
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 182
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 181
A Genome-wide Association Study of Myasthenia Gravis 176
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 175
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 174
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 170
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 169
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 168
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 166
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 166
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 166
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 165
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 162
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 161
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 160
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 159
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 159
A novel L67P SOD1 mutation in an Italian ALS patient. 158
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 158
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 158
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 158
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 157
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 156
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 154
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 154
Origin of celiac disease: How old are predisposing haplotypes? 154
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 152
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 152
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 151
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 150
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 150
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 150
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 143
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 143
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 142
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 138
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 138
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 138
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 137
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 134
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 133
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 132
HFE p.H63D polymorphism does not influence ALS phenotype and survival 130
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 130
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 129
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 128
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 128
Exploring the Role of CCNF Variants in Italian ALS Patients 127
"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 126
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 126
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 123
Is MED13L-related intellectual disability a recognizable syndrome? 122
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 120
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 116
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 112
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 112
Analysis of STMN2 CA repeats in italian ALS patients shows no association 108
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 107
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge 105
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 103
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 98
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 95
SYT1-associated neurodevelopmental disorder: A case series 95
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 91
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 87
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 86
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 86
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges 83
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay 80
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 74
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges 73
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 60
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders 60
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 52
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 44
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data 22
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study 22
Totale 13.745
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Categoria #
all - tutte 53.831
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 53.831
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202112 0 0 0 0 0 0 0 0 0 0 0 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
2025/20264.867 632 126 219 552 933 293 925 235 316 371 181 84
Totale 13.745