CINECA IRIS Institutional Research Information System

BRUSSINO, Alessandro
 Distribuzione geografica
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Continente #
NA - Nord America 3624
EU - Europa 3240
AS - Asia 855
SA - Sud America 86
OC - Oceania 40
AF - Africa 18
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7864
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Nazione #
US - Stati Uniti d'America 3524
IT - Italia 1161
CN - Cina 486
DE - Germania 345
SE - Svezia 321
IE - Irlanda 265
FR - Francia 224
UA - Ucraina 142
FI - Finlandia 138
GB - Regno Unito 131
ES - Italia 105
AT - Austria 98
JP - Giappone 86
CA - Canada 82
KR - Corea 82
PL - Polonia 75
BE - Belgio 60
VN - Vietnam 57
IN - India 53
BR - Brasile 42
NL - Olanda 40
AU - Australia 34
DK - Danimarca 32
RO - Romania 21
TR - Turchia 20
RU - Federazione Russa 19
HK - Hong Kong 18
AR - Argentina 17
CO - Colombia 13
IL - Israele 13
MX - Messico 13
CH - Svizzera 12
SN - Senegal 9
SG - Singapore 7
GR - Grecia 6
HR - Croazia 6
NZ - Nuova Zelanda 6
PT - Portogallo 6
TW - Taiwan 6
CL - Cile 5
CZ - Repubblica Ceca 5
IR - Iran 4
NO - Norvegia 4
PE - Perù 4
ZA - Sudafrica 4
BO - Bolivia 3
CR - Costa Rica 3
CY - Cipro 3
HU - Ungheria 3
MT - Malta 3
NG - Nigeria 3
PK - Pakistan 3
RS - Serbia 3
SA - Arabia Saudita 3
SI - Slovenia 3
AE - Emirati Arabi Uniti 2
BA - Bosnia-Erzegovina 2
BG - Bulgaria 2
ID - Indonesia 2
LT - Lituania 2
ME - Montenegro 2
PH - Filippine 2
TH - Thailandia 2
AN - Antille olandesi 1
BY - Bielorussia 1
EC - Ecuador 1
EE - Estonia 1
EU - Europa 1
HN - Honduras 1
JO - Giordania 1
KW - Kuwait 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MY - Malesia 1
NP - Nepal 1
PS - Palestinian Territory 1
SD - Sudan 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
UY - Uruguay 1
Totale 7864
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Città #
Chandler 510
Beijing 268
Dublin 243
Fairfield 238
Ann Arbor 214
Houston 191
Torino 188
Redwood City 142
Nyköping 119
Wilmington 114
Woodbridge 112
Villeurbanne 110
Ashburn 101
Dearborn 101
Cambridge 94
Vienna 93
Jacksonville 86
Seattle 82
Medford 73
Warsaw 64
Princeton 63
Milan 53
Pisa 51
Dong Ket 39
Brussels 38
Fremont 36
Rome 34
Boston 32
Turin 30
Shanghai 29
Padova 28
Tokyo 27
Paris 24
Toronto 24
Bologna 21
Roda De Bará 21
Ottawa 20
Pavia 19
Boardman 18
London 17
Verona 15
Guangzhou 14
Kunming 14
Nanjing 14
New York 13
Wuhan 13
San Diego 12
São Paulo 12
Buffalo 11
Edinburgh 11
Jinan 11
New Haven 10
Nürnberg 10
Seoul 10
Florence 9
Helsinki 9
Mountain View 9
Naples 9
Philadelphia 9
Stanford 9
Trento 9
Barcelona 8
Federal 8
Hefei 8
Los Angeles 8
Menlo Park 8
Rochester 8
Ankara 7
Dallas 7
Garbagnate Milanese 7
Istanbul 7
Lyndhurst 7
Madrid 7
Munich 7
Phoenix 7
Trieste 7
Zhengzhou 7
Falls Church 6
Legnano 6
Moncalieri 6
Montréal 6
Norwalk 6
Palma De Mallorca 6
Silver Spring 6
Waanrode 6
Bangalore 5
Benevento 5
Central District 5
Chongqing 5
Duncan 5
Molins 5
Napoli 5
Osaka 5
Pittsburgh 5
Rotterdam 5
Vancouver 5
Xian 5
Amsterdam 4
Asti 4
Atlanta 4
Totale 4238
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Nome #
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 554
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 478
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 447
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 379
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 378
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 277
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 275
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 266
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 225
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide 218
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 214
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 196
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 189
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 174
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 164
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 164
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 162
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 156
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia 143
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 129
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 119
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 117
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 98
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 96
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 95
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 94
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 93
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 92
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AGF3L2 homocomplex in the cerebellum 87
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 83
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 83
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 82
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 80
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 79
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay 76
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease 73
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia 73
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant? 71
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 69
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia 65
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum 64
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 62
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 62
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 61
UNA DELEZIONE DI 660 KB A MONTE DEL GENE LAMINA B1 (LMNB1) HA UN EFFETTO ANALOGO ALLA SUA DUPLICAZIONE GENICA E CAUSA LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) 61
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 60
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1 59
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. 59
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 57
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 56
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). 56
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 54
Spinocerebellar ataxia type 12 identified in two Italian families 53
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 52
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 49
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 49
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 46
Mutations in the lamin B1 gene are not present in multiple sclerosis 40
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia 39
Spinocerebellar Ataxia Type 28 39
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 39
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 37
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 37
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. 36
Totale 8140
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Categoria #
all - tutte 12830
article - articoli 0
book - libri 0
conference - conferenze 4415
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 17245
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201877 0000 00 00 00077
2018/20191016 63445168 6766 86129 6799162114
2019/20201304 978884152 105164 14890 1161148858
2020/20211114 83868075 10175 16574 999372111
2021/20221354 544290214 7298 6781 5672311197
2022/20231583 14914474186 148326 129114 17760760
Totale 8140