CAGNOLI, CLAUDIA
 Distribuzione geografica
Continente #
NA - Nord America 1.333
EU - Europa 947
AS - Asia 580
SA - Sud America 12
AF - Africa 11
OC - Oceania 6
Totale 2.889
Nazione #
US - Stati Uniti d'America 1.301
CN - Cina 211
JP - Giappone 192
IT - Italia 191
SE - Svezia 135
DE - Germania 91
IE - Irlanda 85
UA - Ucraina 82
FI - Finlandia 67
FR - Francia 66
SG - Singapore 58
KR - Corea 55
GB - Regno Unito 54
AT - Austria 48
CA - Canada 31
PL - Polonia 23
VN - Vietnam 21
BE - Belgio 19
ES - Italia 16
NL - Olanda 16
IN - India 14
RU - Federazione Russa 14
RO - Romania 9
AR - Argentina 8
HK - Hong Kong 8
PT - Portogallo 8
ZA - Sudafrica 8
AU - Australia 6
CH - Svizzera 6
DK - Danimarca 6
TW - Taiwan 6
ID - Indonesia 4
IL - Israele 4
TR - Turchia 4
HR - Croazia 3
BA - Bosnia-Erzegovina 2
BR - Brasile 2
RS - Serbia 2
SN - Senegal 2
BG - Bulgaria 1
CL - Cile 1
HU - Ungheria 1
IR - Iran 1
JO - Giordania 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MX - Messico 1
NG - Nigeria 1
PE - Perù 1
SI - Slovenia 1
Totale 2.889
Città #
Chandler 256
Beijing 117
Dublin 85
Ashburn 70
Jacksonville 56
Houston 55
Torino 50
Nyköping 45
Vienna 45
Dearborn 42
Ann Arbor 39
Villeurbanne 35
Redwood City 34
Fairfield 31
Wilmington 30
Singapore 29
Medford 28
Princeton 28
Woodbridge 27
Fremont 26
Warsaw 22
Cambridge 17
Dong Ket 17
Seattle 17
Milan 14
Boston 13
Boardman 12
Pisa 12
Shanghai 12
Brussels 10
Toronto 10
Turin 10
Helsinki 9
Moscow 9
Edinburgh 7
Munich 7
Ottawa 7
Wuhan 7
Hefei 6
Santa Clara 6
Granja 5
Johannesburg 5
Montreal 5
Nanterre 5
Newcastle upon Tyne 5
Tokyo 5
Waanrode 5
Washington 5
Chungnam 4
Falls Church 4
Federal 4
Groningen 4
London 4
Los Angeles 4
Mountain View 4
Nanjing 4
Osaka 4
San Diego 4
Silver Spring 4
Taipei 4
Baltimore 3
Basel 3
Buenos Aires 3
Cape Town 3
Cluj 3
Columbia 3
Eitensheim 3
Foshan 3
Fuzhou 3
Genoa 3
Guangzhou 3
Hangzhou 3
Hoogeveen 3
Kunming 3
Melbourne 3
New York 3
Norwalk 3
Ponte San Pietro 3
Provincetown 3
Rome 3
Saint Paul 3
Seoul 3
Sheffield 3
Torrelodones 3
Venezia 3
Verona 3
Zagreb 3
Buffalo 2
Central 2
Central District 2
Clamart 2
Cleveland 2
Dallas 2
Des Moines 2
Drinovci 2
Edinburg 2
Frederiksberg 2
Germantown 2
Hong Kong 2
Inzai 2
Totale 1.547
Nome #
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 302
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 297
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 267
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 146
Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias 139
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 133
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease 120
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 110
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AGF3L2 homocomplex in the cerebellum 103
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 99
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 97
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 97
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay 94
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 92
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease 83
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay 77
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia 72
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum 72
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 68
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. 68
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 64
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 63
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 63
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families 60
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 54
Mutations in the lamin B1 gene are not present in multiple sclerosis 47
Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis 46
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 45
Totale 2.978
Categoria #
all - tutte 8.064
article - articoli 0
book - libri 0
conference - conferenze 1.988
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 10.052


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020356 0 0 22 38 15 79 55 14 37 40 39 17
2020/2021295 37 19 17 15 22 11 44 10 38 28 21 33
2021/2022397 8 8 14 64 15 25 19 16 15 20 112 81
2022/2023632 68 63 19 85 42 137 28 53 72 13 31 21
2023/2024289 28 46 20 29 20 44 12 24 1 8 21 36
2024/202553 13 40 0 0 0 0 0 0 0 0 0 0
Totale 2.978