IRIS
LATTANTE, Serena
 Distribuzione geografica
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Continente #
AS - Asia 2.272
NA - Nord America 687
EU - Europa 407
SA - Sud America 319
AF - Africa 33
OC - Oceania 1
Totale 3.719
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Nazione #
SG - Singapore 946
US - Stati Uniti d'America 639
CN - Cina 480
HK - Hong Kong 465
BR - Brasile 281
VN - Vietnam 196
RU - Federazione Russa 148
IN - India 88
IT - Italia 63
DE - Germania 51
GB - Regno Unito 24
MX - Messico 23
CA - Canada 22
UA - Ucraina 21
BD - Bangladesh 19
AR - Argentina 17
AT - Austria 17
PL - Polonia 16
ZA - Sudafrica 15
NL - Olanda 13
ES - Italia 12
IE - Irlanda 12
FR - Francia 11
JP - Giappone 10
SE - Svezia 8
EC - Ecuador 7
TR - Turchia 7
CO - Colombia 6
AZ - Azerbaigian 5
FI - Finlandia 5
ID - Indonesia 5
JO - Giordania 5
KR - Corea 5
MA - Marocco 5
PK - Pakistan 5
IL - Israele 4
IQ - Iraq 4
KE - Kenya 4
LT - Lituania 4
SA - Arabia Saudita 4
UZ - Uzbekistan 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
DZ - Algeria 3
LB - Libano 3
NP - Nepal 3
BH - Bahrain 2
BO - Bolivia 2
CG - Congo 2
EG - Egitto 2
KZ - Kazakistan 2
LK - Sri Lanka 2
AM - Armenia 1
BE - Belgio 1
CI - Costa d'Avorio 1
CL - Cile 1
DO - Repubblica Dominicana 1
HN - Honduras 1
LV - Lettonia 1
MM - Myanmar 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PY - Paraguay 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
TN - Tunisia 1
Totale 3.719
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Città #
Hong Kong 463
Singapore 225
Beijing 213
Wayanad 76
Ashburn 68
Ho Chi Minh City 59
Moscow 55
Hanoi 46
Los Angeles 36
New York 29
São Paulo 28
San Jose 19
Nuremberg 16
Mexico City 15
Warsaw 15
Dallas 13
Da Nang 12
Dublin 12
Orem 12
Council Bluffs 10
Santa Clara 10
Tokyo 10
Brooklyn 9
Johannesburg 9
Rio de Janeiro 9
Chicago 8
Milan 8
Phoenix 8
Poplar 8
Campinas 7
Dhaka 7
Haiphong 7
Montreal 7
Stockholm 7
Thái Nguyên 7
Vienna 7
Amsterdam 6
Atlanta 6
Belo Horizonte 6
Boston 6
Chennai 6
Lecce 6
Salvador 6
Amman 5
Baku 5
Bắc Ninh 5
Curitiba 5
Falkenstein 5
London 5
Seoul 5
Toronto 5
Biên Hòa 4
Denver 4
Frankfurt am Main 4
Helsinki 4
Houston 4
Joinville 4
Lauterbourg 4
Ningbo 4
Porto Alegre 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
Manaus 3
Miami 3
Milwaukee 3
Munich 3
Nairobi 3
Ninh Bình 3
Ogden 3
Querétaro 3
Rimini 3
Santa Fe 3
Seattle 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
Casatenovo 2
Charleston 2
Contagem 2
Francisco Morato 2
Totale 1.774
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Nome #
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 150
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 120
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 103
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 94
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 88
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 84
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 82
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 82
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 80
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 80
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 80
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 77
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 76
ATXN2 trinucleotide repeat length correlates with risk of ALS 76
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 73
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 73
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 69
Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation 66
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 65
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 63
Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association 61
A novel L67P SOD1 mutation in an Italian ALS patient 59
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 59
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 54
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 48
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study 48
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 48
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 47
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 46
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 45
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update 45
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 43
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients 42
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1→pter 41
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 40
M6A reduction relieves FUS-associated ALS granules 40
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 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 37
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 36
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS 36
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 36
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 35
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis 35
Genetic counselling in ALS: Facts, uncertainties and clinical suggestions 35
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation 35
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 34
HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 34
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 34
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 34
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 33
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria 32
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 32
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 32
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 32
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 31
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 31
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 31
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 31
The S100A4 transcriptional inhibitor niclosamide reduces pro-inflammatory and migratory phenotypes of microglia: Implications for amyotrophic lateral sclerosis 31
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 30
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 30
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations andC9orf72 repeat expansions 30
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 30
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis 29
TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype 29
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 29
Matrin 3 variants are frequent in Italian ALS patients 29
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 28
HFE p.H63D polymorphism does not influence ALS phenotype and survival 27
LETM1 couples mitochondrial DNA metabolism and nutrient preference 27
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 27
Exploring the Role of CCNF Variants in Italian ALS Patients 26
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 26
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 25
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 25
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 25
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 24
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum 24
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 24
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations 23
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene 22
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene 21
Totale 3.833
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Categoria #
all - tutte 18.538
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 18.538
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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
2025/20262.295 261 472 218 259 277 123 198 196 142 149 0 0
Totale 3.833