CINECA IRIS Institutional Research Information System

BRUSSINO, Alessandro
 Distribuzione geografica
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Continente #
NA - Nord America 4.150
EU - Europa 3.593
AS - Asia 1.210
SA - Sud America 92
OC - Oceania 45
AF - Africa 19
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.110
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Nazione #
US - Stati Uniti d'America 4.026
IT - Italia 1.371
CN - Cina 574
DE - Germania 374
SE - Svezia 321
IE - Irlanda 258
FR - Francia 247
GB - Regno Unito 175
FI - Finlandia 151
SG - Singapore 151
UA - Ucraina 143
ES - Italia 117
KR - Corea 110
JP - Giappone 106
AT - Austria 100
CA - Canada 95
PL - Polonia 76
IN - India 58
VN - Vietnam 57
BE - Belgio 55
TR - Turchia 46
BR - Brasile 45
NL - Olanda 45
AU - Australia 39
DK - Danimarca 34
HK - Hong Kong 32
RU - Federazione Russa 26
MX - Messico 24
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
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
LT - Lituania 2
ME - Montenegro 2
PH - Filippine 2
AN - Antille olandesi 1
BY - Bielorussia 1
CI - Costa d'Avorio 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 9.110
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Città #
Chandler 510
Beijing 278
Ashburn 243
Fairfield 238
Dublin 236
Ann Arbor 214
Houston 191
Torino 188
Redwood City 142
Nyköping 119
Wilmington 114
Woodbridge 112
Villeurbanne 110
Dearborn 101
Vienna 95
Cambridge 94
Singapore 87
Jacksonville 86
Seattle 86
Milan 78
Medford 73
Warsaw 65
Princeton 63
Turin 63
Pisa 51
Rome 48
Dong Ket 39
Fremont 36
Shanghai 36
Padova 34
Tokyo 34
Boardman 32
Boston 32
New York 29
Brussels 28
Paris 28
Washington 28
Guangzhou 26
Toronto 24
Bologna 23
Los Angeles 23
Helsinki 22
Pavia 21
Roda De Bará 21
Jakarta 20
Nanjing 20
Ottawa 20
Genoa 19
Edinburgh 18
San Diego 18
Istanbul 17
London 17
Santa Clara 16
Wuhan 16
Verona 15
Kunming 14
Naples 14
Florence 13
Jinan 13
Trento 13
Barcelona 12
São Paulo 12
Buffalo 11
Chicago 11
Seoul 11
Trieste 11
Madrid 10
Moscow 10
New Haven 10
Nürnberg 10
Grand Rapids 9
Mountain View 9
Munich 9
Stanford 9
Zhengzhou 9
Federal 8
Hefei 8
Hong Kong 8
Menlo Park 8
Montreal 8
Philadelphia 8
Rochester 8
San Jose 8
Silver Spring 8
Ankara 7
Dallas 7
Garbagnate Milanese 7
Hangzhou 7
Lyndhurst 7
Melbourne 7
Phoenix 7
Vancouver 7
Ballymena 6
Brescia 6
Camden 6
Columbus 6
Eitensheim 6
Falls Church 6
Legnano 6
Moncalieri 6
Totale 4.793
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Nome #
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 600
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 578
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 513
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 433
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 413
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 367
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 304
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 303
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 300
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 254
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 244
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 232
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 227
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 218
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 196
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 178
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 178
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 175
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 161
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 146
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 143
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 135
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 130
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
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 103
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 99
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 98
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 98
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 98
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 97
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 94
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 93
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
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia 81
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? 77
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 74
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 73
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
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 71
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 69
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) 69
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
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 64
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 12 identified in two Italian families 63
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 62
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). 61
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 55
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 54
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 50
Mutations in the lamin B1 gene are not present in multiple sclerosis 47
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 45
Spinocerebellar Ataxia Type 28 44
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 44
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia 42
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. 42
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 41
Totale 9.386
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Categoria #
all - tutte 21.674
article - articoli 0
book - libri 0
conference - conferenze 7.582
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.256
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.119 0 0 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
2023/2024981 82 123 67 65 84 144 70 86 16 59 76 109
2024/2025220 50 117 53 0 0 0 0 0 0 0 0 0
Totale 9.386