IRIS
LATTANTE, Serena
 Distribuzione geografica
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Continente #
AS - Asia 93
NA - Nord America 85
EU - Europa 33
AF - Africa 1
Totale 212
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Nazione #
US - Stati Uniti d'America 85
IN - India 76
IT - Italia 19
IE - Irlanda 11
SG - Singapore 9
CN - Cina 7
CI - Costa d'Avorio 1
DE - Germania 1
IL - Israele 1
NL - Olanda 1
SE - Svezia 1
Totale 212
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Città #
Wayanad 76
Dublin 11
Lecce 6
Ningbo 4
Beijing 3
Ogden 3
Rimini 3
Singapore 3
Aradeo 2
Pesaro 2
Adjamé 1
Amsterdam 1
Boardman 1
Eitensheim 1
Los Angeles 1
Milan 1
Rome 1
San Pietro Vernotico 1
Tel Aviv 1
Totale 122
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Nome #
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 25
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 18
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 18
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 12
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 11
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 8
ATXN2 trinucleotide repeat length correlates with risk of ALS 8
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 8
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 7
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 7
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 7
Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association 7
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 7
Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation 7
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 6
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 6
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 5
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 5
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 5
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 5
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 4
A novel L67P SOD1 mutation in an Italian ALS patient 4
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 4
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 4
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 4
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 4
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 4
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 3
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 3
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 3
LETM1 couples mitochondrial DNA metabolism and nutrient preference 3
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 3
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 3
The S100A4 transcriptional inhibitor niclosamide reduces pro-inflammatory and migratory phenotypes of microglia: Implications for amyotrophic lateral sclerosis 3
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 3
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 3
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 2
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis 2
HFE p.H63D polymorphism does not influence ALS phenotype and survival 2
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 2
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 2
HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 2
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations 2
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 2
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 2
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 2
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS 2
TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype 2
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study 2
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 2
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 2
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum 2
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria 2
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 2
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 2
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis 2
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 2
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 2
Matrin 3 variants are frequent in Italian ALS patients 2
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 2
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1→pter 2
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 2
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 2
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 2
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 2
Genetic counselling in ALS: Facts, uncertainties and clinical suggestions 2
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update 2
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations andC9orf72 repeat expansions 2
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 2
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 2
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 2
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 2
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation 2
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 2
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 2
Totale 315
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Categoria #
all - tutte 4.389
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 4.389
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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
2024/20253 3 0 0 0 0 0 0 0 0 0 0 0
Totale 315