Search filters

List of works by Isabel Silveira

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

scientific article

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

scientific article published in July 2017

A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine

scientific article (publication date: 2004)

A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.

scientific article published on 17 June 2006

A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37

scientific article published on 11 June 2018

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

scientific article

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

scientific article published in March 1998

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

scientific article

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

scientific article

Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries

scientific article published on 27 November 2020

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

scientific article published on 29 July 2009

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey

scientific article published on April 2013

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

scientific article published in February 2013

Characterization of polymeric nanoparticles for intravenous delivery: Focus on stability

scientific article published on 29 October 2016

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease

scientific article published in June 2008

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

scientific article published on 01 March 2010

Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives.

scientific article published in January 2007

Epidemiology and population genetics of degenerative ataxias

scientific article published on January 1, 2012

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

scientific article

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

scientific article published in July 2005

Fluorodopa and raclopride PET analysis of patients with Machado-Joseph disease ⬇️

scientific article published on October 1, 1997

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

scientific article published on 01 January 1996

Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

article

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

scientific article published on 01 November 2005

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

scientific article

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

scientific article

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

article

Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.

scientific article

Machado-Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population

scientific article published on 07 August 2007

Machado-Joseph Disease Is Genetically Different from Holguin Dominant Ataxia (SCA2)

scientific article published on 01 September 1993

Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

article

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant

scientific article published on 21 May 2007

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.

scientific article published on 9 January 2019

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

scientific article

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family

scientific article (publication date: April 2003)

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

scientific article

Recent Advances in Nucleic Acid-Based Delivery: From Bench to Clinical Trials in Genetic Diseases

scientific article published on May 2016

Recent advances in characterization of nonviral vectors for delivery of nucleic acids: impact on their biological performance

scientific article

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

scientific article published in May 2006

Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype

scientific article published on 01 March 2003

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease

scientific article published in August 1996

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

article

The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.

scientific article

Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene

scientific article published on 19 December 2015

Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study.

scientific article published on March 2003

Paulina is supported by:

About Paulina

Help