IRIS
LATTANTE, Serena
 Distribuzione geografica
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Continente #
AS - Asia 617
EU - Europa 235
NA - Nord America 217
SA - Sud America 28
AF - Africa 3
OC - Oceania 1
Totale 1.101
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Nazione #
HK - Hong Kong 369
US - Stati Uniti d'America 210
SG - Singapore 152
RU - Federazione Russa 113
IN - India 76
IT - Italia 37
DE - Germania 29
BR - Brasile 26
AT - Austria 13
IE - Irlanda 11
CN - Cina 9
UA - Ucraina 9
NL - Olanda 8
CA - Canada 6
GB - Regno Unito 6
FI - Finlandia 4
VN - Vietnam 4
LT - Lituania 3
BD - Bangladesh 2
AM - Armenia 1
AR - Argentina 1
BE - Belgio 1
BH - Bahrain 1
CI - Costa d'Avorio 1
EC - Ecuador 1
EG - Egitto 1
IL - Israele 1
JO - Giordania 1
MX - Messico 1
NZ - Nuova Zelanda 1
SE - Svezia 1
TR - Turchia 1
ZA - Sudafrica 1
Totale 1.101
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Città #
Hong Kong 368
Wayanad 76
Singapore 50
Moscow 48
Nuremberg 13
Dublin 11
Milan 7
Lecce 6
Falkenstein 5
Vienna 5
Helsinki 4
Ningbo 4
Beijing 3
Ogden 3
Rimini 3
Toronto 3
Amsterdam 2
Aradeo 2
Frankfurt am Main 2
Hanoi 2
Hưng Yên 2
London 2
Los Angeles 2
Manassas 2
Ottawa 2
Pesaro 2
Trieste 2
Vigevano 2
Adjamé 1
Alfenas 1
Amman 1
Boardman 1
Brussels 1
Cairo 1
Cosmópolis 1
Cristalina 1
Cruz Alta 1
Curitiba 1
Dhaka 1
Eitensheim 1
Ferraz de Vasconcelos 1
Goiânia 1
Guayaquil 1
Ilhéus 1
Ipiaú 1
Istanbul 1
Itaguaí 1
Itaquaquecetuba 1
Juazeiro do Norte 1
Kaifeng 1
Lanús 1
Lavras 1
Mairinque 1
Manama 1
Mandaguari 1
Martins Soares 1
Mexico City 1
Monte Mor 1
Palmeira d'Oeste 1
Penápolis 1
Porto Calvo 1
Rome 1
Salvador 1
San Pietro Vernotico 1
Santo André 1
São Caetano do Sul 1
São Paulo 1
Tel Aviv 1
Tenente Portela 1
Yerevan 1
Totale 675
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Nome #
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 51
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 40
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 38
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 35
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 28
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 27
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 26
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 25
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 25
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 24
ATXN2 trinucleotide repeat length correlates with risk of ALS 24
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 23
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 22
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 21
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 20
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 20
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 20
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 20
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 19
Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation 19
A novel L67P SOD1 mutation in an Italian ALS patient 18
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 18
Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association 18
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 18
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 17
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 15
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 15
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 15
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS 14
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 14
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 13
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 13
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 13
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis 13
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 13
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 12
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 12
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1→pter 12
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update 12
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations andC9orf72 repeat expansions 12
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 12
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation 12
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 12
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 11
LETM1 couples mitochondrial DNA metabolism and nutrient preference 11
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 11
The S100A4 transcriptional inhibitor niclosamide reduces pro-inflammatory and migratory phenotypes of microglia: Implications for amyotrophic lateral sclerosis 11
HFE p.H63D polymorphism does not influence ALS phenotype and survival 10
HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 10
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 10
TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype 10
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 10
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study 10
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 10
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria 10
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 10
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 10
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 10
Matrin 3 variants are frequent in Italian ALS patients 10
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 10
M6A reduction relieves FUS-associated ALS granules 10
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 10
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 10
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 10
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 10
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 10
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 10
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis 9
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 9
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 9
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations 9
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 9
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 9
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 9
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 9
Genetic counselling in ALS: Facts, uncertainties and clinical suggestions 9
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 8
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum 8
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients 7
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene 7
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene 5
Exploring the Role of CCNF Variants in Italian ALS Patients 5
Totale 1.215
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Categoria #
all - tutte 11.240
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 11.240
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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
2024/2025903 4 6 25 9 102 286 131 66 144 130 0 0
Totale 1.215