CINECA IRIS Institutional Research Information System

BRUSSINO, Alessandro
 Distribuzione geografica
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Continente #
NA - Nord America 4.040
EU - Europa 3.483
AS - Asia 1.015
SA - Sud America 90
OC - Oceania 45
AF - Africa 18
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.692
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Nazione #
US - Stati Uniti d'America 3.928
IT - Italia 1.305
CN - Cina 535
DE - Germania 366
SE - Svezia 321
IE - Irlanda 258
FR - Francia 237
GB - Regno Unito 167
FI - Finlandia 146
UA - Ucraina 143
ES - Italia 112
KR - Corea 108
AT - Austria 100
JP - Giappone 98
CA - Canada 85
PL - Polonia 76
VN - Vietnam 57
IN - India 56
BE - Belgio 53
NL - Olanda 44
BR - Brasile 43
SG - Singapore 41
AU - Australia 39
TR - Turchia 39
DK - Danimarca 34
HK - Hong Kong 28
RU - Federazione Russa 25
MX - Messico 22
RO - Romania 21
AR - Argentina 19
IL - Israele 18
CO - Colombia 14
CH - Svizzera 13
GR - Grecia 9
SN - Senegal 9
TW - Taiwan 7
BA - Bosnia-Erzegovina 6
HR - Croazia 6
NO - Norvegia 6
NZ - Nuova Zelanda 6
PT - Portogallo 6
CL - Cile 5
CZ - Repubblica Ceca 5
MT - Malta 5
IR - Iran 4
PE - Perù 4
ZA - Sudafrica 4
BO - Bolivia 3
CR - Costa Rica 3
CY - Cipro 3
HU - Ungheria 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
ID - Indonesia 2
LT - Lituania 2
ME - Montenegro 2
PH - Filippine 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 8.692
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Città #
Chandler 510
Beijing 276
Fairfield 238
Dublin 236
Ashburn 229
Ann Arbor 214
Houston 191
Torino 188
Redwood City 142
Nyköping 119
Wilmington 114
Woodbridge 112
Villeurbanne 110
Dearborn 101
Vienna 95
Cambridge 94
Jacksonville 86
Seattle 86
Medford 73
Milan 65
Warsaw 65
Princeton 63
Pisa 51
Turin 50
Rome 44
Dong Ket 39
Fremont 36
Shanghai 36
Boston 32
Padova 32
New York 29
Tokyo 29
Paris 28
Washington 28
Brussels 26
Toronto 24
Bologna 23
Pavia 21
Roda De Bará 21
Ottawa 20
Boardman 19
Genoa 17
Helsinki 17
San Diego 17
Nanjing 16
Guangzhou 15
London 15
Verona 15
Edinburgh 14
Kunming 14
Los Angeles 14
Wuhan 14
Florence 13
Trento 13
Barcelona 12
Istanbul 12
Naples 12
São Paulo 12
Buffalo 11
Chicago 11
Jinan 11
Seoul 11
Trieste 11
Moscow 10
New Haven 10
Nürnberg 10
Grand Rapids 9
Mountain View 9
Munich 9
Stanford 9
Zhengzhou 9
Federal 8
Hefei 8
Menlo Park 8
Philadelphia 8
Rochester 8
San Jose 8
Ankara 7
Dallas 7
Garbagnate Milanese 7
Lyndhurst 7
Madrid 7
Melbourne 7
Phoenix 7
Ballymena 6
Brescia 6
Camden 6
Columbus 6
Eitensheim 6
Falls Church 6
Legnano 6
Moncalieri 6
Montréal 6
Norwalk 6
Palma De Mallorca 6
Pittsburgh 6
Silver Spring 6
Waanrode 6
Bangalore 5
Benevento 5
Totale 4.558
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Nome #
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 583
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 536
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 495
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 422
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 409
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 339
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 297
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 296
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 265
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 242
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 236
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 219
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 209
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 197
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 188
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 173
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 172
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 166
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 154
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 139
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 139
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 130
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 125
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 104
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 99
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AGF3L2 homocomplex in the cerebellum 99
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 98
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 96
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 94
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 92
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 91
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 91
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 89
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 86
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease 83
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 78
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay 77
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant? 75
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia 73
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum 70
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 70
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 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 68
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 68
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 67
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 67
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. 67
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) 65
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 63
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 61
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 61
Spinocerebellar ataxia type 12 identified in two Italian families 59
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 58
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). 57
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 53
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 52
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 49
Mutations in the lamin B1 gene are not present in multiple sclerosis 46
Spinocerebellar Ataxia Type 28 43
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 43
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia 41
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 39
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 39
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. 37
Totale 8.968
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Categoria #
all - tutte 19.074
article - articoli 0
book - libri 0
conference - conferenze 6.583
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 25.657
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019375 0 0 0 0 0 0 0 0 0 99 162 114
2019/20201.304 97 88 84 152 105 164 148 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
2023/2024783 82 123 67 65 84 144 70 86 16 46 0 0
Totale 8.968