IRIS PubliCatt

Marangi, Giuseppe
 Distribuzione geografica
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Continente #
EU - Europa 3.156
NA - Nord America 3.096
AS - Asia 541
AF - Africa 23
SA - Sud America 9
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 4
Totale 6.834
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Nazione #
US - Stati Uniti d'America 3.076
DE - Germania 1.218
SE - Svezia 586
IT - Italia 412
CN - Cina 378
UA - Ucraina 300
IE - Irlanda 141
FR - Francia 125
PL - Polonia 83
GB - Regno Unito 80
FI - Finlandia 74
IN - India 53
BE - Belgio 35
NL - Olanda 35
TR - Turchia 34
CI - Costa d'Avorio 20
JP - Giappone 20
CA - Canada 17
SG - Singapore 14
CH - Svizzera 13
VN - Vietnam 12
PT - Portogallo 9
RU - Federazione Russa 9
ES - Italia 7
IR - Iran 7
RO - Romania 6
AU - Australia 5
CL - Cile 5
GR - Grecia 5
KZ - Kazakistan 5
AE - Emirati Arabi Uniti 4
HK - Hong Kong 4
KR - Corea 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AT - Austria 3
BR - Brasile 3
MT - Malta 3
NO - Norvegia 3
BZ - Belize 2
CZ - Repubblica Ceca 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
IS - Islanda 1
KW - Kuwait 1
MX - Messico 1
NG - Nigeria 1
SA - Arabia Saudita 1
TN - Tunisia 1
Totale 6.834
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Città #
Chandler 641
Ashburn 299
Ann Arbor 155
Dublin 138
Jacksonville 138
San Mateo 128
New York 108
Nürnberg 102
Woodbridge 99
Nanjing 98
Wilmington 92
Cattolica 90
Redmond 90
Houston 82
Warsaw 72
Fairfield 64
Dearborn 63
Boston 61
Milan 56
Seattle 54
Nanchang 48
Lawrence 46
Beijing 43
Redwood City 43
Rome 42
Marseille 38
Detroit 31
Hangzhou 29
Izmir 29
Princeton 28
Shenyang 23
Bremen 22
Changsha 22
Abidjan 20
Mountain View 20
Norwalk 20
Boardman 19
Brussels 19
Munich 19
Cambridge 17
Fremont 17
Guangzhou 17
Kunming 16
Tianjin 16
University Park 16
Waanrode 16
Lappeenranta 13
Pune 12
Zhengzhou 11
Auburn Hills 10
Lancaster 10
Los Angeles 10
Singapore 10
Busto Arsizio 9
Hanoi 9
Hebei 9
Jiaxing 9
Ottawa 9
Trieste 9
Washington 8
London 7
Naaldwijk 7
Changchun 6
Chicago 6
Clearwater 6
Helsinki 6
Kraków 6
Shanghai 6
Tokyo 6
Ypsilanti 6
Braga 5
Leawood 5
Philadelphia 5
Almaty 4
Brescia 4
Florinas 4
Funchal 4
Fuzhou 4
Greensboro 4
Jinan 4
Locarno 4
Morlupo 4
Phoenix 4
Port Orchard 4
Salt Lake City 4
San Diego 4
San Francisco 4
Seoul 4
Simi Valley 4
Stockholm 4
Toronto 4
Yalta 4
Augusta 3
Bari 3
Berlin 3
Brugherio 3
Costa Mesa 3
Dubai 3
Edinburgh 3
Falls Church 3
Totale 3.621
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Nome #
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 258
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 204
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 192
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 182
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 161
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 158
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 139
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 125
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 122
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 117
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 112
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 112
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 108
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 106
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 105
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 104
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 104
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 102
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 101
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 99
A novel L67P SOD1 mutation in an Italian ALS patient. 97
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 94
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 93
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 92
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 91
Matrin 3 variants are frequent in Italian ALS patients 91
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 90
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 90
A Genome-wide Association Study of Myasthenia Gravis 90
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 88
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 86
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 86
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 85
Origin of celiac disease: How old are predisposing haplotypes? 85
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 84
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 84
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 84
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 84
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 81
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 80
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 80
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 79
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 77
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 77
HFE p.H63D polymorphism does not influence ALS phenotype and survival 77
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 77
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 76
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 76
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 76
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 76
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 76
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 75
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 74
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 70
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 68
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 67
Is MED13L-related intellectual disability a recognizable syndrome? 66
"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 65
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 64
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 63
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 63
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 62
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 59
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 57
How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons 55
SYT1-associated neurodevelopmental disorder: A case series 54
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 53
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 52
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 46
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 46
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 44
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge 43
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 42
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges 42
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 42
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 41
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay 39
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 35
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 28
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges 27
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 25
Analysis of STMN2 CA repeats in italian ALS patients shows no association 21
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 20
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 16
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders 13
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 9
Totale 6.959
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Categoria #
all - tutte 23.301
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 23.301
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019117 0 0 0 0 0 0 0 0 0 0 62 55
2019/20201.004 179 57 49 71 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
2023/2024786 41 231 36 62 42 210 63 45 13 43 0 0
Totale 6.959