IRIS
LATTANTE, Serena
 Distribuzione geografica
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Continente #
AS - Asia 1.700
NA - Nord America 548
EU - Europa 345
SA - Sud America 298
AF - Africa 25
OC - Oceania 1
Totale 2.917
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Nazione #
SG - Singapore 802
US - Stati Uniti d'America 510
HK - Hong Kong 405
BR - Brasile 268
CN - Cina 242
RU - Federazione Russa 119
VN - Vietnam 101
IN - India 80
IT - Italia 55
DE - Germania 48
GB - Regno Unito 21
UA - Ucraina 21
MX - Messico 19
CA - Canada 17
AT - Austria 16
BD - Bangladesh 15
AR - Argentina 13
ZA - Sudafrica 13
ES - Italia 11
IE - Irlanda 11
PL - Polonia 11
NL - Olanda 10
SE - Svezia 8
EC - Ecuador 6
JP - Giappone 6
CO - Colombia 5
FI - Finlandia 5
ID - Indonesia 5
KR - Corea 5
AZ - Azerbaigian 4
FR - Francia 4
IQ - Iraq 4
JO - Giordania 4
LT - Lituania 4
MA - Marocco 4
PK - Pakistan 4
TR - Turchia 4
DZ - Algeria 3
SA - Arabia Saudita 3
VE - Venezuela 3
AE - Emirati Arabi Uniti 2
BH - Bahrain 2
EG - Egitto 2
IL - Israele 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
NP - Nepal 2
UZ - Uzbekistan 2
AM - Armenia 1
BE - Belgio 1
BO - Bolivia 1
CI - Costa d'Avorio 1
CL - Cile 1
DO - Repubblica Dominicana 1
LK - Sri Lanka 1
NZ - Nuova Zelanda 1
PY - Paraguay 1
SV - El Salvador 1
Totale 2.917
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Città #
Hong Kong 404
Beijing 175
Singapore 137
Wayanad 76
Moscow 48
Ashburn 44
Ho Chi Minh City 31
Los Angeles 26
São Paulo 25
New York 21
Hanoi 20
Nuremberg 16
Dallas 13
Mexico City 12
Dublin 11
Warsaw 11
Rio de Janeiro 9
Johannesburg 8
Milan 8
Poplar 8
Campinas 7
Da Nang 7
Dhaka 7
Phoenix 7
Stockholm 7
Vienna 7
Belo Horizonte 6
Brooklyn 6
Lecce 6
Salvador 6
Tokyo 6
Atlanta 5
Boston 5
Chicago 5
Curitiba 5
Falkenstein 5
Santa Clara 5
Seoul 5
Toronto 5
Amman 4
Amsterdam 4
Baku 4
Bắc Ninh 4
Helsinki 4
Joinville 4
London 4
Montreal 4
Ningbo 4
Orem 4
Porto Alegre 4
Thái Nguyên 4
Ankara 3
Anápolis 3
Biên Hòa 3
Buffalo 3
Florence 3
Guarulhos 3
Ha Long 3
Haiphong 3
Houston 3
Itaboraí 3
Itaguaí 3
João Monlevade 3
Karachi 3
Manaus 3
Munich 3
Ogden 3
Querétaro 3
Rimini 3
Santa Fe 3
Seattle 3
Varginha 3
Angra dos Reis 2
Aradeo 2
Bandung 2
Bauru 2
Birigui 2
Boardman 2
Brasília 2
Casatenovo 2
Chennai 2
Contagem 2
Fortaleza 2
Francisco Morato 2
Frankfurt am Main 2
Gravataí 2
Guayaquil 2
Honolulu 2
Hưng Yên 2
Ilhéus 2
Itaúna 2
Jacareí 2
Jacksonville 2
Jeddah 2
Jundiaí 2
Juneau 2
Limeira 2
Manassas 2
Miami 2
Milwaukee 2
Totale 1.382
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Nome #
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 116
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 87
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 80
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 78
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 74
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 70
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 68
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 66
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 64
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 64
ATXN2 trinucleotide repeat length correlates with risk of ALS 64
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 64
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 64
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 62
Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation 58
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 56
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 54
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 54
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 54
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 52
A novel L67P SOD1 mutation in an Italian ALS patient 50
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 47
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 45
Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association 43
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 38
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 36
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update 35
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 33
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 33
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 33
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 32
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study 32
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 31
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 30
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 30
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS 30
M6A reduction relieves FUS-associated ALS granules 30
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1→pter 30
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 30
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 29
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 29
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 27
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 27
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations andC9orf72 repeat expansions 27
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 27
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation 27
HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 26
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients 26
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 26
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis 26
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 26
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 26
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 26
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 25
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria 25
The S100A4 transcriptional inhibitor niclosamide reduces pro-inflammatory and migratory phenotypes of microglia: Implications for amyotrophic lateral sclerosis 25
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 25
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 25
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis 24
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 24
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 24
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 24
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 24
HFE p.H63D polymorphism does not influence ALS phenotype and survival 23
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 23
Matrin 3 variants are frequent in Italian ALS patients 23
Genetic counselling in ALS: Facts, uncertainties and clinical suggestions 23
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 23
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 22
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 22
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 22
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 22
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum 21
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 21
TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype 20
LETM1 couples mitochondrial DNA metabolism and nutrient preference 20
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 20
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations 19
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 19
Exploring the Role of CCNF Variants in Italian ALS Patients 18
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene 17
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene 16
Totale 3.031
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Categoria #
all - tutte 16.675
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 16.675
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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
2025/20261.493 261 472 218 259 277 6 0 0 0 0 0 0
Totale 3.031