IRIS
LATTANTE, Serena
 Distribuzione geografica
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Continente #
AS - Asia 2.332
NA - Nord America 1.968
EU - Europa 644
SA - Sud America 330
Continente sconosciuto - Info sul continente non disponibili 127
AF - Africa 33
OC - Oceania 2
Totale 5.436
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Nazione #
US - Stati Uniti d'America 1.765
SG - Singapore 959
CN - Cina 509
HK - Hong Kong 470
BR - Brasile 288
IT - Italia 274
VN - Vietnam 196
RU - Federazione Russa 148
IN - India 92
CA - Canada 84
DE - Germania 52
GB - Regno Unito 37
BD - Bangladesh 27
MX - Messico 24
UA - Ucraina 21
PR - Porto Rico 18
AR - Argentina 17
AT - Austria 17
NL - Olanda 16
PL - Polonia 16
ZA - Sudafrica 15
FR - Francia 14
IE - Irlanda 14
CR - Costa Rica 13
ES - Italia 13
JM - Giamaica 11
CW - ???statistics.table.value.countryCode.CW??? 10
GP - Guadalupe 10
JP - Giappone 10
TT - Trinidad e Tobago 10
SV - El Salvador 9
EC - Ecuador 8
SE - Svezia 8
GT - Guatemala 7
TR - Turchia 7
CO - Colombia 6
ID - Indonesia 6
AZ - Azerbaigian 5
FI - Finlandia 5
HN - Honduras 5
JO - Giordania 5
KR - Corea 5
MA - Marocco 5
NI - Nicaragua 5
PK - Pakistan 5
VE - Venezuela 5
IL - Israele 4
IQ - Iraq 4
KE - Kenya 4
LT - Lituania 4
SA - Arabia Saudita 4
UZ - Uzbekistan 4
AE - Emirati Arabi Uniti 3
DZ - Algeria 3
LB - Libano 3
NP - Nepal 3
BH - Bahrain 2
BO - Bolivia 2
CG - Congo 2
CL - Cile 2
EG - Egitto 2
KZ - Kazakistan 2
LK - Sri Lanka 2
PY - Paraguay 2
RO - Romania 2
AG - Antigua e Barbuda 1
AM - Armenia 1
AU - Australia 1
BB - Barbados 1
BE - Belgio 1
BZ - Belize 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GD - Grenada 1
LV - Lettonia 1
MM - Myanmar 1
MQ - Martinica 1
NZ - Nuova Zelanda 1
PH - Filippine 1
SY - Repubblica araba siriana 1
TC - Turks e Caicos 1
TH - Thailandia 1
TN - Tunisia 1
Totale 5.319
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Città #
Hong Kong 468
Council Bluffs 288
Ashburn 273
Singapore 236
Beijing 224
San Jose 185
Wayanad 76
Milan 63
Santa Clara 61
Ho Chi Minh City 59
Moscow 55
Los Angeles 50
Hanoi 46
New York 41
São Paulo 29
Dallas 28
Montreal 19
Rome 19
Atlanta 18
Brooklyn 18
Orem 18
Phoenix 17
Mexico City 16
Nuremberg 16
Warsaw 15
Carrboro 14
Miano 14
North Bergen 14
Chicago 13
Toronto 13
Da Nang 12
Dublin 12
Tokyo 10
Willemstad 10
Houston 9
Johannesburg 9
Rio de Janeiro 9
San Salvador 9
Florence 8
Poplar 8
San Francisco 8
San José 8
San Juan 8
Campinas 7
Denver 7
Dhaka 7
Haiphong 7
Lecce 7
London 7
Naples 7
Stockholm 7
Thái Nguyên 7
Vienna 7
Amsterdam 6
Belo Horizonte 6
Boston 6
Chaguanas 6
Chennai 6
Miami 6
Salvador 6
Seattle 6
Amman 5
Baku 5
Bắc Ninh 5
Curitiba 5
Falkenstein 5
Kingston 5
Managua 5
Mumbai 5
Seoul 5
Vancouver 5
Bari 4
Biên Hòa 4
Buffalo 4
Frankfurt am Main 4
Guatemala City 4
Helsinki 4
Honolulu 4
Joinville 4
Lauterbourg 4
Louisville 4
Ningbo 4
Pointe-à-Pitre 4
Porto Alegre 4
Tashkent 4
Turin 4
Ankara 3
Anápolis 3
Arecibo 3
Bakersfield 3
Bologna 3
Brasília 3
Fort Worth 3
Fortaleza 3
Guarulhos 3
Guayaquil 3
Ha Long 3
Heredia 3
Itaboraí 3
Itaguaí 3
Totale 2.796
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Nome #
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation 165
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 147
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 129
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene 113
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 107
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 107
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 105
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 103
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients 101
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 101
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 101
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 100
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 96
ATXN2 trinucleotide repeat length correlates with risk of ALS 93
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 92
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 92
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 87
Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation 84
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 83
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 83
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients 82
Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association 79
A novel L67P SOD1 mutation in an Italian ALS patient 74
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 74
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study 73
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 71
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 71
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders 69
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 65
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 65
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update 63
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 62
M6A reduction relieves FUS-associated ALS granules 62
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 59
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS 57
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 57
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD 57
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis 56
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France 55
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1→pter 55
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 54
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis 53
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 53
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 52
HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes 52
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 52
Genetic counselling in ALS: Facts, uncertainties and clinical suggestions 52
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 52
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 51
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 51
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers 50
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria 50
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein 50
HFE p.H63D polymorphism does not influence ALS phenotype and survival 49
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis 49
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations andC9orf72 repeat expansions 49
The S100A4 transcriptional inhibitor niclosamide reduces pro-inflammatory and migratory phenotypes of microglia: Implications for amyotrophic lateral sclerosis 49
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 49
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 48
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 48
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation 48
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis 47
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients 47
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations 46
Exploring the Role of CCNF Variants in Italian ALS Patients 46
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 46
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia 46
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration 45
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum 45
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) 45
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 45
TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype 44
LETM1 couples mitochondrial DNA metabolism and nutrient preference 44
Matrin 3 variants are frequent in Italian ALS patients 44
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia 44
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene 42
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation 41
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene 40
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 39
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 39
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 37
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity 37
Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review 28
Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family 22
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study 21
Totale 5.436
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Categoria #
all - tutte 25.767
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 25.767
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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
2025/20262.524 261 472 218 259 277 123 198 196 142 172 168 38
2026/20271.374 122 295 153 802 2 0 0 0 0 0 0 0
Totale 5.436