IRIS
LATTANTE, Serena
 Distribuzione geografica
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Continente #
AS - Asia 398
NA - Nord America 180
EU - Europa 56
AF - Africa 1
OC - Oceania 1
Totale 636
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Nazione #
HK - Hong Kong 262
US - Stati Uniti d'America 178
IN - India 76
SG - Singapore 50
IT - Italia 31
IE - Irlanda 11
CN - Cina 9
GB - Regno Unito 6
DE - Germania 3
CA - Canada 2
LT - Lituania 2
BE - Belgio 1
CI - Costa d'Avorio 1
IL - Israele 1
NL - Olanda 1
NZ - Nuova Zelanda 1
SE - Svezia 1
Totale 636
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Città #
Hong Kong 262
Wayanad 76
Singapore 37
Dublin 11
Lecce 6
Milan 5
Ningbo 4
Beijing 3
Ogden 3
Rimini 3
Aradeo 2
London 2
Los Angeles 2
Pesaro 2
Trieste 2
Vigevano 2
Adjamé 1
Amsterdam 1
Boardman 1
Brussels 1
Eitensheim 1
Frankfurt am Main 1
Kaifeng 1
Nuremberg 1
Ottawa 1
Rome 1
San Pietro Vernotico 1
Tel Aviv 1
Toronto 1
Totale 435
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Nome #
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 32
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 26
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 26
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 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 18
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 17
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 16
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 16
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 15
ATXN2 trinucleotide repeat length correlates with risk of ALS 15
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 14
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 14
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 13
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 13
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 13
Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation 13
A novel L67P SOD1 mutation in an Italian ALS patient 12
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 12
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 12
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 12
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 12
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 12
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS 11
Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association 11
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 10
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis 9
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1→pter 9
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 8
HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 8
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 8
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 8
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 8
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 8
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 8
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 8
The S100A4 transcriptional inhibitor niclosamide reduces pro-inflammatory and migratory phenotypes of microglia: Implications for amyotrophic lateral sclerosis 8
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 8
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 8
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 8
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation 8
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 7
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis 7
HFE p.H63D polymorphism does not influence ALS phenotype and survival 7
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 7
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 7
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 7
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 7
TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype 7
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study 7
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 7
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria 7
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 7
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 7
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 7
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 7
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 7
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 7
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update 7
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 7
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations andC9orf72 repeat expansions 7
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 7
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 7
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 6
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 6
LETM1 couples mitochondrial DNA metabolism and nutrient preference 6
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 6
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 6
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 5
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations 5
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 5
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum 5
Matrin 3 variants are frequent in Italian ALS patients 5
M6A reduction relieves FUS-associated ALS granules 5
Genetic counselling in ALS: Facts, uncertainties and clinical suggestions 5
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 5
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 5
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients 3
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene 3
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 3
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene 1
Totale 744
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Categoria #
all - tutte 8.138
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 8.138
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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
2024/2025432 4 6 25 9 102 286 0 0 0 0 0 0
Totale 744