引用次数
引用: 3,808
H-指数: 38
I10-指数 : 49
出版物: 107
FREQUENCY OF THE DIFFERENT MUTATIONS CAUSING SPINOCEREBELLAR ATAXIA (SCA1, SCAZ, MJD/SCA3ANO DHPLA) IN A LARGE GROUP OF BRAZILIAN PATIENTS
JAYME A MA CIEL , JOAO RADVANY , PAULO C TREVISOL—BIITENCOURT , PEDRO ROSA
DENOMINAÇÕES PARA ARCO-ÍRIS EM SERGIPE: UMA ANÁLISE DIATÓPICA
Isabel Silva Silveira , Luiz Eduardo Simões de Burgos
SOCIOLINGUÍSTICA, DIALETOLOGIA E GEOGRAFIA LINGUÍSTICA 76 -76
FMR1 premutations may be associated with a wider spectrum of phenotypes
Ana Seixas , José Vale , Márcia Martins , Joana Loureiro
15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 4-7 September 2011 74
2011
Fragile X syndrome: intergenerational allele instability and associated phenotypes in families
Loureiro Joana , Isabel Marques , Rosário Santos , Ana Seixas
16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 22-24 Novembro 2012
2012
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
Patrícia Maciel , Claudia Gaspar , Anita L DeStefano , Isabel Silveira
American Journal of Human Genetics 57 ( 1) 54 -61
243
1995
Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes
Joana Loureiro , Paula Jorge , Isabel Marques , Rosário Santos
European Human Genetics Conference, June 23-26, 2012
2012
The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment.
I Anna S Olsson , Isabel Alonso , Cristina Santos , Isabel Silveira
Comparative Medicine 59 ( 2) 129 -138
7
2009
Neurologic findings in Machado-Joseph disease : Relation with disease duration, subtypes, and (CAG)n
Laura B Jardim , Maria L Pereira , Isabel Silveira , Anabela Ferro
JAMA Neurology 58 ( 6) 899 -904
131
2001
Machado-Joseph Disease Is Genetically Different from Holguin Dominant Ataxia (SCA2)
Isabel Silveira , Alexandra Manaia , Judith Melki , Carlos Magariño
Genomics 17 ( 3) 556 -559
2
1993
Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds
Jorge Sequeiros , Isabel Silveira , Patrı́cia Maciel , Paula Coutinho
Genomics 21 ( 3) 645 -648
30
1994
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.
Iscia Lopes‐Cendes , Patrícia Maciel , Stephen Kish , Claudia Gaspar
Annals of Neurology 40 ( 2) 199 -206
54
1996
Recent Advances in Nucleic Acid-Based Delivery: From Bench to Clinical Trials in Genetic Diseases.
Cláudia Oliveira , António J. Ribeiro , Francisco Veiga , Isabel Silveira
Journal of Biomedical Nanotechnology 12 ( 5) 841 -862
13
2016
Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene.
Joana R. Loureiro , Claudia L. Oliveira , Isabel Silveira
Neurobiology of Aging 39 174 -183
23
2016
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.
Laura Bannach Jardim , Isabel Silveira , Maria Luzia Pereira , Anabela Ferro
Journal of Neurology 248 ( 10) 870 -876
83
2001
Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis
Ana I. Seixas , Susan E. Holmes , Hiroshi Takeshima , Amira Pavlovich
Annals of Neurology 71 ( 2) 245 -257
51
2012
Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant.
Isabel Alonso , Joana M Marques , Nuno Sousa , Jorge Sequeiros
Neurobiology of Aging 29 ( 11) 1733 -1743
23
2008
Hereditary Ataxia and Spastic Paraplegia in Portugal: A Population-Based Prevalence Study
Paula Coutinho , Luis Ruano , José L Loureiro , Vitor T Cruz
JAMA Neurology 70 ( 6) 746 -755
72
2013
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
José Leal Loureiro , Eva Brandao , Luis Ruano , Ana F Brandao
JAMA Neurology 70 ( 4) 481 -487
36
2013
Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation: 12-Year Follow-up of a Large Portuguese Family
José Barros , Joana Damasio , Assuncao Tuna , Ivania Alves
JAMA Neurology 70 ( 2) 235 -240
21
2013
A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.
Joana Rocha Loureiro , Cláudia Louro Oliveira , Jorge Sequeiros , Isabel Silveira
Journal of Human Genetics 63 ( 9) 981 -987
5
2018