IRIS UniCatt

Lattante, Serena
 Distribuzione geografica
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Continente #
NA - Nord America 5.197
EU - Europa 3.301
AS - Asia 3.034
SA - Sud America 542
Continente sconosciuto - Info sul continente non disponibili 158
AF - Africa 91
OC - Oceania 16
Totale 12.339
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Nazione #
US - Stati Uniti d'America 5.048
SG - Singapore 1.401
DE - Germania 1.050
CN - Cina 682
SE - Svezia 516
IT - Italia 474
BR - Brasile 428
VN - Vietnam 319
UA - Ucraina 251
FR - Francia 221
GB - Regno Unito 155
IE - Irlanda 136
PL - Polonia 133
FI - Finlandia 107
ID - Indonesia 88
IN - India 88
BD - Bangladesh 81
CA - Canada 77
HK - Hong Kong 74
JP - Giappone 73
RU - Federazione Russa 71
TR - Turchia 52
NL - Olanda 45
BE - Belgio 38
AR - Argentina 36
MX - Messico 36
IQ - Iraq 27
ZA - Sudafrica 26
ES - Italia 24
AT - Austria 19
CO - Colombia 19
AE - Emirati Arabi Uniti 18
CI - Costa d'Avorio 18
KR - Corea 18
PK - Pakistan 18
SA - Arabia Saudita 18
EC - Ecuador 15
MA - Marocco 13
CL - Cile 12
VE - Venezuela 12
CH - Svizzera 11
JO - Giordania 10
AU - Australia 9
PY - Paraguay 9
RO - Romania 9
TN - Tunisia 9
IL - Israele 8
JM - Giamaica 7
TH - Thailandia 7
AZ - Azerbaigian 6
CR - Costa Rica 6
IR - Iran 6
NP - Nepal 6
UZ - Uzbekistan 6
DK - Danimarca 5
GR - Grecia 5
HN - Honduras 5
LT - Lituania 5
NZ - Nuova Zelanda 5
PE - Perù 5
PT - Portogallo 5
BB - Barbados 4
CZ - Repubblica Ceca 4
KE - Kenya 4
KG - Kirghizistan 4
KZ - Kazakistan 4
PH - Filippine 4
TT - Trinidad e Tobago 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AL - Albania 3
BY - Bielorussia 3
CG - Congo 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
NO - Norvegia 3
SN - Senegal 3
UY - Uruguay 3
AO - Angola 2
BG - Bulgaria 2
BS - Bahamas 2
BZ - Belize 2
DZ - Algeria 2
HR - Croazia 2
KW - Kuwait 2
MM - Myanmar 2
MY - Malesia 2
SK - Slovacchia (Repubblica Slovacca) 2
SV - El Salvador 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CV - Capo Verde 1
EG - Egitto 1
GA - Gabon 1
GM - Gambi 1
GY - Guiana 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
Totale 12.171
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Città #
Singapore 800
Ashburn 543
Chandler 519
San Jose 453
New York 142
Beijing 139
Fairfield 135
Dublin 131
Warsaw 122
Houston 114
Ann Arbor 113
Los Angeles 113
Woodbridge 110
Jacksonville 106
Ho Chi Minh City 104
Wilmington 97
Seattle 90
Nanjing 86
San Mateo 86
Hanoi 83
Lauterbourg 80
Redmond 80
Jakarta 79
Cattolica 73
Nürnberg 67
Milan 66
Tokyo 63
Frankfurt am Main 56
Hong Kong 56
São Paulo 50
Rome 49
Boston 48
Dearborn 47
Chicago 45
Munich 45
Moscow 44
Detroit 42
Lawrence 39
Santa Clara 39
Redwood City 38
Hefei 37
Nanchang 34
Buffalo 33
Dallas 31
Hangzhou 31
Helsinki 31
Izmir 31
Atlanta 30
Bremen 27
Council Bluffs 26
London 26
Princeton 26
Lappeenranta 24
Marseille 23
Cambridge 22
The Dalles 22
Phoenix 21
Shenyang 21
Brussels 20
Brooklyn 19
Orem 19
Abidjan 18
Paris 18
San Francisco 18
Shanghai 18
Guangzhou 17
Changsha 16
Seoul 16
Stockholm 16
Norwalk 15
Nuremberg 15
Chennai 14
Jiaxing 14
Montreal 14
North Bergen 14
Rio de Janeiro 14
Waanrode 14
Boardman 13
Da Nang 13
Denver 13
Fremont 13
Hebei 13
Johannesburg 13
Kunming 13
Mountain View 13
Kent 12
Tianjin 12
Charlotte 11
Manchester 11
Ottawa 11
Philadelphia 11
Amman 10
Baghdad 10
Memphis 10
University Park 10
Auburn Hills 9
Dhaka 9
Düsseldorf 9
Mexico City 9
Monza 9
Totale 6.254
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Nome #
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 324
Exploring the Role of CCNF Variants in Italian ALS Patients 311
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations. 309
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 303
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 300
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 278
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 257
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 241
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 222
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 210
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 198
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 198
Matrin 3 variants are frequent in Italian ALS patients 196
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 196
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 193
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 181
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 175
Evaluating the contribution of the gene TARDBP in Italian patients 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 174
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 172
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 171
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 169
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 169
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 163
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 163
A novel L67P SOD1 mutation in an Italian ALS patient. 162
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 161
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 161
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 160
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 159
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 158
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 157
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 155
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 153
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 152
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 149
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 146
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 146
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 145
ATXN2 trinucleotide repeat length correlates with risk of ALS 143
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 141
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 139
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 137
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 136
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 136
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 135
HFE p.H63D polymorphism does not influence ALS phenotype and survival 132
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 130
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 130
LETM1 couples mitochondrial DNA metabolism and nutrient preference 129
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update 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 125
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 118
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 118
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 117
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 116
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions 116
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 115
Analysis of STMN2 CA repeats in italian ALS patients shows no association 113
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 111
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 110
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 109
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 109
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 106
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 105
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 102
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 102
The S100A4 Transcriptional Inhibitor Niclosamide Reduces Pro-Inflammatory and Migratory Phenotypes of Microglia: Implications for Amyotrophic Lateral Sclerosis 101
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 101
M6A reduction relieves FUS-associated ALS granules 100
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 98
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 96
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 93
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 91
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 91
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 88
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 88
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 87
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 86
Clinical Heterogeneity of ALS-Implications for Models and Therapeutic Development 71
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients 61
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data 35
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study 35
Totale 12.339
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Categoria #
all - tutte 48.310
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 48.310
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022520 0 0 16 93 20 13 14 76 39 39 95 115
2022/20231.484 199 237 118 202 88 190 54 123 169 26 48 30
2023/2024782 32 236 21 45 32 136 44 30 7 41 89 69
2024/20251.404 40 38 95 62 117 61 56 50 213 128 306 238
2025/20264.058 537 104 186 435 817 225 807 217 237 241 144 108
2026/2027853 159 498 196 0 0 0 0 0 0 0 0 0
Totale 12.339