CINECA IRIS Institutional Research Information System

BRUSSINO, Alessandro
 Distribuzione geografica
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Continente #
NA - Nord America 1.270
EU - Europa 1.060
AS - Asia 472
OC - Oceania 40
SA - Sud America 34
AF - Africa 19
Totale 2.895
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Nazione #
US - Stati Uniti d'America 1.211
IT - Italia 387
CN - Cina 226
DE - Germania 188
CZ - Repubblica Ceca 68
FR - Francia 62
GB - Regno Unito 62
CA - Canada 56
IN - India 52
JP - Giappone 51
RU - Federazione Russa 40
VN - Vietnam 34
ES - Italia 33
KR - Corea 31
AU - Australia 28
PL - Polonia 28
BE - Belgio 27
PT - Portogallo 20
TR - Turchia 20
NL - Olanda 19
IE - Irlanda 18
BR - Brasile 17
GR - Grecia 16
RO - Romania 16
HK - Hong Kong 13
DK - Danimarca 12
NZ - Nuova Zelanda 12
AR - Argentina 10
AT - Austria 10
ZA - Sudafrica 10
UA - Ucraina 9
CH - Svizzera 8
ID - Indonesia 7
SE - Svezia 7
TW - Taiwan 7
CL - Cile 6
FI - Finlandia 6
IL - Israele 6
IR - Iran 5
NP - Nepal 5
HR - Croazia 4
LT - Lituania 4
SG - Singapore 4
BA - Bosnia-Erzegovina 3
EG - Egitto 3
MA - Marocco 3
NO - Norvegia 3
PK - Pakistan 3
BY - Bielorussia 2
JO - Giordania 2
MX - Messico 2
RS - Serbia 2
SA - Arabia Saudita 2
SI - Slovenia 2
AE - Emirati Arabi Uniti 1
BG - Bulgaria 1
CO - Colombia 1
DZ - Algeria 1
ET - Etiopia 1
HU - Ungheria 1
ME - Montenegro 1
MU - Mauritius 1
PR - Porto Rico 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 2.895
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Città #
Houston 141
Fairfield 125
Torino 84
Ashburn 80
Beijing 77
Woodbridge 74
Buffalo 62
Ann Arbor 57
Seattle 56
Cambridge 50
Santa Cruz 44
University Park 37
Turin 33
Wilmington 31
Dong Ket 23
Wuhan 20
Warsaw 19
Guangzhou 17
Nanjing 16
Shenyang 16
Paris 15
Rome 15
Boardman 12
Milan 12
Tokyo 12
Bologna 11
Hangzhou 11
Mountain View 11
Antwerpen 10
Chicago 10
Lake Forest 10
London 10
Ottawa 10
Pavia 10
Pisa 10
San Diego 10
Genoa 9
New York 9
Nürnberg 9
Clearwater 8
Los Angeles 8
San Francisco 8
Toronto 8
Vienna 8
Changsha 7
Dallas 7
Hartford 7
Manchester 7
Xian 7
Adana 6
Boston 6
Brighton 6
Buenos Aires 6
Copenhagen 6
Dearborn 6
Istanbul 6
Parsippany 6
Phoenix 6
Seoul 6
Summerville 6
Thessaloníki 6
Bengaluru 5
Brescia 5
Gießen 5
Las Vegas 5
Madison 5
Montréal 5
Moscow 5
Sankt Ingbert 5
Thessaloniki 5
Vigo 5
Amadora 4
Amsterdam 4
Barcelona 4
Brussels 4
Chennai 4
Edinburgh 4
El Barco De Ávila 4
Funchal 4
Helsinki 4
Herndon 4
Ho Chi Minh City 4
Kolkata 4
Lanzhou 4
Lyngby 4
Muizenberg 4
Padova 4
Recklinghausen 4
Salvador 4
Shanghai 4
Sydney 4
Taipei 4
Baotou 3
Bari 3
Boulder 3
Gualeguaychú 3
Gurgaon 3
Hamilton 3
Hanoi 3
Harbin 3
Totale 1.573
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Nome #
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce428-b474-2581-e053-d805fe0acbaa 471
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file e27ce428-b9cb-2581-e053-d805fe0acbaa 336
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce427-8f63-2581-e053-d805fe0acbaa 333
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation., file e27ce427-102a-2581-e053-d805fe0acbaa 219
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy, file e27ce426-ad1d-2581-e053-d805fe0acbaa 184
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, file e27ce42b-f0f5-2581-e053-d805fe0acbaa 180
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), file e27ce428-b4d6-2581-e053-d805fe0acbaa 173
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy, file e27ce42e-5913-2581-e053-d805fe0acbaa 162
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes., file e27ce426-daed-2581-e053-d805fe0acbaa 139
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa 136
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways, file e27ce426-fbbf-2581-e053-d805fe0acbaa 120
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42f-7661-2581-e053-d805fe0acbaa 82
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, file e27ce426-e10a-2581-e053-d805fe0acbaa 79
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression, file e27ce426-fbc1-2581-e053-d805fe0acbaa 77
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42e-30bf-2581-e053-d805fe0acbaa 74
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, file e27ce426-e5bc-2581-e053-d805fe0acbaa 70
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file e27ce42e-385f-2581-e053-d805fe0acbaa 39
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42f-9f16-2581-e053-d805fe0acbaa 39
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2, file e27ce430-ab8f-2581-e053-d805fe0acbaa 23
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42d-f818-2581-e053-d805fe0acbaa 9
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-157f-2581-e053-d805fe0acbaa 6
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42d-8750-2581-e053-d805fe0acbaa 5
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28, file e27ce42b-fdcb-2581-e053-d805fe0acbaa 4
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42e-b534-2581-e053-d805fe0acbaa 4
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28, file e27ce42b-e39c-2581-e053-d805fe0acbaa 3
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis, file e27ce42d-0212-2581-e053-d805fe0acbaa 3
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy, file e27ce42e-625c-2581-e053-d805fe0acbaa 3
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes., file e27ce426-f13b-2581-e053-d805fe0acbaa 2
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce42b-f3a8-2581-e053-d805fe0acbaa 2
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42d-874f-2581-e053-d805fe0acbaa 2
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file e27ce42d-aced-2581-e053-d805fe0acbaa 2
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42e-0a52-2581-e053-d805fe0acbaa 2
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42e-c38b-2581-e053-d805fe0acbaa 2
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia, file e27ce426-ac44-2581-e053-d805fe0acbaa 1
Spinocerebellar Ataxia Type 28, file e27ce426-d996-2581-e053-d805fe0acbaa 1
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene, file e27ce42b-ecd4-2581-e053-d805fe0acbaa 1
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce42b-f3a4-2581-e053-d805fe0acbaa 1
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients, file e27ce42b-f8ee-2581-e053-d805fe0acbaa 1
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay, file e27ce42c-3f80-2581-e053-d805fe0acbaa 1
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file e27ce42d-ace7-2581-e053-d805fe0acbaa 1
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2, file e27ce430-a2fa-2581-e053-d805fe0acbaa 1
Totale 2.993
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Categoria #
all - tutte 4.209
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.209
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019166 0 0 0 0 0 0 0 0 0 42 69 55
2019/2020519 49 33 33 62 48 44 40 41 53 47 38 31
2020/2021560 24 75 28 24 51 34 39 60 71 70 45 39
2021/2022593 50 28 57 77 75 44 37 46 48 25 73 33
2022/2023504 22 26 78 70 38 45 56 56 27 51 25 10
2023/202448 2 1 10 4 10 1 9 5 4 2 0 0
Totale 2.993