IRIS PubliCatt

Marangi, Giuseppe
 Distribuzione geografica
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Continente #
EU - Europa 3.317
NA - Nord America 3.168
AS - Asia 929
AF - Africa 24
SA - Sud America 9
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 4
Totale 7.456
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Nazione #
US - Stati Uniti d'America 3.141
DE - Germania 1.225
SE - Svezia 587
IT - Italia 469
CN - Cina 444
UA - Ucraina 300
SG - Singapore 239
IE - Irlanda 141
FR - Francia 128
GB - Regno Unito 98
ID - Indonesia 89
PL - Polonia 83
FI - Finlandia 80
RU - Federazione Russa 62
IN - India 54
BE - Belgio 38
NL - Olanda 35
TR - Turchia 35
CA - Canada 24
JP - Giappone 21
CI - Costa d'Avorio 20
CH - Svizzera 13
VN - Vietnam 13
ES - Italia 9
PT - Portogallo 9
RO - Romania 8
IR - Iran 7
HK - Hong Kong 6
AE - Emirati Arabi Uniti 5
AU - Australia 5
CL - Cile 5
GR - Grecia 5
KZ - Kazakistan 5
NO - Norvegia 5
CZ - Repubblica Ceca 4
KR - Corea 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AT - Austria 3
BR - Brasile 3
LT - Lituania 3
MT - Malta 3
BZ - Belize 2
DK - Danimarca 2
HU - Ungheria 2
IL - Israele 2
TH - Thailandia 2
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
DZ - Algeria 1
EC - Ecuador 1
EU - Europa 1
HR - Croazia 1
IS - Islanda 1
JO - Giordania 1
KW - Kuwait 1
LV - Lettonia 1
MA - Marocco 1
MX - Messico 1
NG - Nigeria 1
SA - Arabia Saudita 1
TN - Tunisia 1
Totale 7.456
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Città #
Chandler 641
Ashburn 299
Singapore 191
Ann Arbor 155
Dublin 138
Jacksonville 138
San Mateo 128
New York 109
Nürnberg 102
Woodbridge 99
Nanjing 98
Wilmington 92
Cattolica 90
Redmond 90
Jakarta 89
Houston 82
Milan 73
Warsaw 72
Fairfield 64
Dearborn 63
Boston 61
Rome 54
Seattle 54
Moscow 49
Nanchang 48
Lawrence 46
Beijing 43
Redwood City 43
Marseille 38
Detroit 31
Hangzhou 29
Izmir 29
Princeton 28
Los Angeles 24
Shenyang 24
Munich 23
Bremen 22
Brussels 22
Changsha 22
Mountain View 22
Abidjan 20
Boardman 20
Norwalk 20
Cambridge 17
Fremont 17
Guangzhou 17
Tianjin 17
Kunming 16
University Park 16
Waanrode 16
Lappeenranta 15
London 12
Pune 12
Ottawa 11
Zhengzhou 11
Auburn Hills 10
Helsinki 10
Lancaster 10
Busto Arsizio 9
Hanoi 9
Hebei 9
Jiaxing 9
Trieste 9
Monza 8
Washington 8
Naaldwijk 7
Santa Clara 7
Tokyo 7
Toronto 7
Changchun 6
Chicago 6
Clearwater 6
Kraków 6
Salt Lake City 6
Shanghai 6
Ypsilanti 6
Braga 5
Leawood 5
Philadelphia 5
Phoenix 5
Almaty 4
Brescia 4
Dubai 4
Florinas 4
Funchal 4
Fuzhou 4
Greensboro 4
Jinan 4
Locarno 4
Morlupo 4
Port Orchard 4
San Diego 4
San Francisco 4
Seoul 4
Simi Valley 4
Stockholm 4
Tower Hamlets 4
Yalta 4
Augusta 3
Bari 3
Totale 4.021
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Nome #
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 263
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 216
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 197
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 191
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 165
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 163
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 148
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 132
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 130
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 123
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 122
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 116
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 114
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 112
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 111
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 110
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 109
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 108
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 108
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 107
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 104
Matrin 3 variants are frequent in Italian ALS patients 103
A novel L67P SOD1 mutation in an Italian ALS patient. 102
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 102
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 101
A Genome-wide Association Study of Myasthenia Gravis 101
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 98
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 97
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 96
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 95
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 94
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 93
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 92
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 92
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 92
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 91
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 91
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 91
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 91
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 90
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 89
Origin of celiac disease: How old are predisposing haplotypes? 89
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 89
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 86
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 85
HFE p.H63D polymorphism does not influence ALS phenotype and survival 84
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 84
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 84
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 82
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 82
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 80
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 80
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 79
Is MED13L-related intellectual disability a recognizable syndrome? 78
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 76
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 74
How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons 73
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 73
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 73
"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 72
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 71
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 68
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 67
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 66
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 65
SYT1-associated neurodevelopmental disorder: A case series 59
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 59
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 57
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 52
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 51
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 49
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge 49
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 47
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 47
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 45
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges 45
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay 45
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 39
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 38
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 29
Analysis of STMN2 CA repeats in italian ALS patients shows no association 29
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges 29
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 26
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 23
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 16
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders 16
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 14
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 10
Totale 7.584
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Categoria #
all - tutte 30.834
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 30.834
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020648 0 0 0 0 73 96 116 37 44 81 121 80
2020/2021735 57 68 36 70 131 36 79 15 84 49 98 12
2021/2022836 83 102 21 97 21 18 14 120 45 44 111 160
2022/20231.713 220 268 142 268 91 213 77 129 172 45 54 34
2023/2024988 41 231 36 62 42 210 63 45 13 43 92 110
2024/2025423 41 55 117 72 138 0 0 0 0 0 0 0
Totale 7.584