CINECA IRIS Institutional Research Information System

BRUSSINO, Alessandro
 Distribuzione geografica
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Continente #
NA - Nord America 4.450
EU - Europa 3.687
AS - Asia 1.390
SA - Sud America 93
OC - Oceania 49
AF - Africa 20
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.690
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Nazione #
US - Stati Uniti d'America 4.313
IT - Italia 1.411
CN - Cina 609
DE - Germania 387
SE - Svezia 321
SG - Singapore 278
IE - Irlanda 258
FR - Francia 249
GB - Regno Unito 182
FI - Finlandia 152
UA - Ucraina 143
ES - Italia 117
JP - Giappone 115
KR - Corea 112
CA - Canada 104
AT - Austria 100
PL - Polonia 76
IN - India 60
BE - Belgio 58
VN - Vietnam 58
NL - Olanda 51
RU - Federazione Russa 47
TR - Turchia 46
BR - Brasile 45
AU - Australia 43
DK - Danimarca 34
HK - Hong Kong 32
MX - Messico 28
IL - Israele 22
RO - Romania 21
ID - Indonesia 20
AR - Argentina 19
CH - Svizzera 16
CO - Colombia 14
GR - Grecia 9
SN - Senegal 9
TW - Taiwan 8
BA - Bosnia-Erzegovina 6
CZ - Repubblica Ceca 6
HR - Croazia 6
NO - Norvegia 6
NZ - Nuova Zelanda 6
PT - Portogallo 6
CL - Cile 5
IR - Iran 5
MT - Malta 5
PE - Perù 5
PH - Filippine 4
ZA - Sudafrica 4
BO - Bolivia 3
CR - Costa Rica 3
CY - Cipro 3
HU - Ungheria 3
LT - Lituania 3
NG - Nigeria 3
PK - Pakistan 3
RS - Serbia 3
SA - Arabia Saudita 3
SI - Slovenia 3
TH - Thailandia 3
AE - Emirati Arabi Uniti 2
BG - Bulgaria 2
ME - Montenegro 2
SD - Sudan 2
AN - Antille olandesi 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
EC - Ecuador 1
EE - Estonia 1
EU - Europa 1
GE - Georgia 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
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
UY - Uruguay 1
Totale 9.690
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Città #
Chandler 510
Beijing 280
Ashburn 247
Fairfield 238
Dublin 236
Ann Arbor 214
Singapore 205
Houston 191
Torino 188
Santa Clara 145
Redwood City 142
Nyköping 119
Wilmington 114
Woodbridge 112
Villeurbanne 110
Dearborn 101
Vienna 95
Cambridge 94
Jacksonville 86
Seattle 86
Milan 78
Medford 73
Turin 70
Columbus 65
Warsaw 65
Princeton 63
Rome 54
Pisa 51
Dong Ket 39
Tokyo 37
Fremont 36
Shanghai 36
Padova 35
Boston 33
Boardman 32
New York 32
Brussels 31
Moscow 30
Paris 28
Washington 28
Guangzhou 27
Toronto 27
Bologna 23
Helsinki 23
Los Angeles 23
Ottawa 22
Pavia 21
Roda De Bará 21
Jakarta 20
Nanjing 20
Genoa 19
Edinburgh 18
Munich 18
San Diego 18
Istanbul 17
London 17
Wuhan 16
Verona 15
Chicago 14
Kunming 14
Naples 14
Florence 13
Jinan 13
Trento 13
Barcelona 12
São Paulo 12
Trieste 12
Buffalo 11
Seoul 11
Madrid 10
New Haven 10
Nürnberg 10
Grand Rapids 9
Melbourne 9
Mountain View 9
Philadelphia 9
Stanford 9
Zhengzhou 9
Brescia 8
Federal 8
Hangzhou 8
Hefei 8
Hong Kong 8
Menlo Park 8
Montreal 8
Rochester 8
San Jose 8
Silver Spring 8
Ankara 7
Dallas 7
Frankfurt am Main 7
Garbagnate Milanese 7
Lyndhurst 7
Phoenix 7
Vancouver 7
Ballymena 6
Camden 6
Eitensheim 6
Falls Church 6
Legnano 6
Totale 5.176
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Nome #
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 619
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 598
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 523
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 452
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 425
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 402
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 317
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 316
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 314
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 262
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 254
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 245
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 244
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 226
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 208
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 183
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 182
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 178
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 174
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 159
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 154
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 148
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 135
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 119
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 109
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AGF3L2 homocomplex in the cerebellum 109
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 108
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 107
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 106
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 106
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 105
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 102
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 100
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 96
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 91
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease 90
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia 90
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 86
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant? 85
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay 84
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia 80
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum 80
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 80
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 78
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 77
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) 76
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 75
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 75
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. 75
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 72
Spinocerebellar ataxia type 12 identified in two Italian families 71
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 71
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). 70
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 68
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 60
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 57
Mutations in the lamin B1 gene are not present in multiple sclerosis 56
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 56
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 51
Spinocerebellar Ataxia Type 28 46
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 46
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 46
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. 45
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia 44
Totale 9.966
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Categoria #
all - tutte 23.496
article - articoli 0
book - libri 0
conference - conferenze 8.240
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 31.736
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020778 0 0 0 0 0 164 148 90 116 114 88 58
2020/20211.114 83 86 80 75 101 75 165 74 99 93 72 111
2021/20221.354 54 42 90 214 72 98 67 81 56 72 311 197
2022/20231.628 149 144 74 186 148 326 114 110 169 56 74 78
2023/2024981 82 123 67 65 84 144 70 86 16 59 76 109
2024/2025800 50 117 84 168 327 54 0 0 0 0 0 0
Totale 9.966