IRIS
LATTANTE, Serena
 Distribuzione geografica
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Continente #
AS - Asia 2.322
NA - Nord America 1.126
EU - Europa 441
SA - Sud America 325
Continente sconosciuto - Info sul continente non disponibili 117
AF - Africa 33
OC - Oceania 1
Totale 4.365
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Nazione #
US - Stati Uniti d'America 1.054
SG - Singapore 957
CN - Cina 507
HK - Hong Kong 469
BR - Brasile 283
VN - Vietnam 196
RU - Federazione Russa 148
IN - India 90
IT - Italia 87
DE - Germania 51
CA - Canada 30
GB - Regno Unito 27
BD - Bangladesh 25
MX - Messico 24
UA - Ucraina 21
AR - Argentina 17
AT - Austria 17
NL - Olanda 16
PL - Polonia 16
ZA - Sudafrica 15
FR - Francia 14
ES - Italia 13
IE - Irlanda 12
JP - Giappone 10
EC - Ecuador 8
SE - Svezia 8
TR - Turchia 7
CO - Colombia 6
AZ - Azerbaigian 5
FI - Finlandia 5
ID - Indonesia 5
JM - Giamaica 5
JO - Giordania 5
KR - Corea 5
MA - Marocco 5
PK - Pakistan 5
VE - Venezuela 5
IL - Israele 4
IQ - Iraq 4
KE - Kenya 4
LT - Lituania 4
SA - Arabia Saudita 4
UZ - Uzbekistan 4
AE - Emirati Arabi Uniti 3
DZ - Algeria 3
LB - Libano 3
NP - Nepal 3
BH - Bahrain 2
BO - Bolivia 2
CG - Congo 2
CL - Cile 2
CR - Costa Rica 2
EG - Egitto 2
GT - Guatemala 2
HN - Honduras 2
KZ - Kazakistan 2
LK - Sri Lanka 2
PY - Paraguay 2
SV - El Salvador 2
AM - Armenia 1
BE - Belgio 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
GD - Grenada 1
LV - Lettonia 1
MM - Myanmar 1
MQ - Martinica 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PR - Porto Rico 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
Totale 4.248
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Città #
Hong Kong 467
Singapore 234
Beijing 222
San Jose 185
Ashburn 120
Council Bluffs 87
Wayanad 76
Ho Chi Minh City 59
Moscow 55
Hanoi 46
Santa Clara 46
Los Angeles 38
New York 35
São Paulo 29
Dallas 19
Milan 18
Orem 17
Mexico City 16
Nuremberg 16
Brooklyn 15
Warsaw 15
Phoenix 13
Da Nang 12
Dublin 12
Atlanta 10
Tokyo 10
Chicago 9
Johannesburg 9
Rio de Janeiro 9
Houston 8
Montreal 8
Poplar 8
Campinas 7
Dhaka 7
Haiphong 7
Lecce 7
London 7
Stockholm 7
Thái Nguyên 7
Toronto 7
Vienna 7
Amsterdam 6
Belo Horizonte 6
Boston 6
Chennai 6
Salvador 6
Amman 5
Baku 5
Bắc Ninh 5
Curitiba 5
Denver 5
Falkenstein 5
Miami 5
Seattle 5
Seoul 5
Biên Hòa 4
Frankfurt am Main 4
Helsinki 4
Joinville 4
Lauterbourg 4
Mumbai 4
Ningbo 4
Porto Alegre 4
Rome 4
Tashkent 4
Ankara 3
Anápolis 3
Buffalo 3
Florence 3
Fortaleza 3
Guarulhos 3
Guayaquil 3
Ha Long 3
Itaboraí 3
Itaguaí 3
João Monlevade 3
Karachi 3
Kingston 3
Manaus 3
Milwaukee 3
Munich 3
Nairobi 3
Ninh Bình 3
Ogden 3
Querétaro 3
Rimini 3
San Francisco 3
Santa Fe 3
Varginha 3
Angra dos Reis 2
Aradeo 2
Bandung 2
Barranquilla 2
Bauru 2
Berlin 2
Birigui 2
Boardman 2
Brasília 2
Buon Ma Thuot 2
Bến Tre 2
Totale 2.195
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Nome #
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 153
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 133
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 115
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 103
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 97
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 92
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 92
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 91
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 91
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 87
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 87
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 85
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 85
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 84
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 82
ATXN2 trinucleotide repeat length correlates with risk of ALS 81
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 75
Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation 74
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 73
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 72
Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association 68
A novel L67P SOD1 mutation in an Italian ALS patient 65
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 64
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 57
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study 57
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 56
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 55
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 54
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 52
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update 52
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 52
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 51
M6A reduction relieves FUS-associated ALS granules 51
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients 49
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1→pter 45
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 44
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 43
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 43
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 41
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 41
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis 41
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 40
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS 40
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation 40
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 39
HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 39
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 39
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 39
Genetic counselling in ALS: Facts, uncertainties and clinical suggestions 39
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 39
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 38
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria 38
The S100A4 transcriptional inhibitor niclosamide reduces pro-inflammatory and migratory phenotypes of microglia: Implications for amyotrophic lateral sclerosis 38
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 38
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 38
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 37
HFE p.H63D polymorphism does not influence ALS phenotype and survival 36
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 36
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations andC9orf72 repeat expansions 36
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 36
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis 35
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 35
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 35
LETM1 couples mitochondrial DNA metabolism and nutrient preference 35
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum 34
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 34
Matrin 3 variants are frequent in Italian ALS patients 34
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 34
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 33
TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype 33
Exploring the Role of CCNF Variants in Italian ALS Patients 32
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 31
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 31
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene 30
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 29
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 29
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 28
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 28
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 28
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 27
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations 26
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene 25
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study 8
Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review 7
Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family 6
Totale 4.365
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Categoria #
all - tutte 22.475
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 22.475
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2022/202326 0 0 0 0 0 0 4 0 11 0 0 11
2023/2024286 88 10 23 27 25 2 6 9 4 80 8 4
2024/20251.226 4 6 25 9 102 286 131 66 144 213 130 110
2025/20262.524 261 472 218 259 277 123 198 196 142 172 168 38
2026/2027303 122 181 0 0 0 0 0 0 0 0 0 0
Totale 4.365