Machado-Joseph Disease: from first descriptions to new perspectives

Emerging pathogenic pathways in the spinocerebellar ataxias

(2009) Kerri M Carlson et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado–Joseph disease)

(2009) Udo Rüb et al.   CURRENT OPINION IN NEUROLOGY

Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3

(2009) Sokol V Todi et al.   EMBO JOURNAL

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

(2009) J. Vale et al.   EUROPEAN JOURNAL OF NEUROLOGY

The ‘hot cross bun’ sign in the patients with spinocerebellar ataxia

(2009) Y.-C. Lee et al.   EUROPEAN JOURNAL OF NEUROLOGY

Axonal Dysfunction in the Deep White Matter in Machado-Joseph Disease

(2009) Anelyssa D'Abreu et al.   JOURNAL OF NEUROIMAGING

Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

(2009) Yin-guang Wang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs

(2009) Jiaxin Hu et al.   NATURE BIOTECHNOLOGY

Prevalence of Spinocerebellar Degenerations in the Hokuriku District in Japan

(2009) Ayumi Shibata-Hamaguchi et al.   NEUROEPIDEMIOLOGY

Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3)

(2009) Conceição Bettencourt et al.   NEUROGENETICS

Caring for Machado–Joseph disease: Current understanding and how to help patients

(2009) Anelyssa D'Abreu et al.   PARKINSONISM & RELATED DISORDERS

Spinocerebellar ataxia type 6 in Brazil

(2008) Hélio A.G. Teive et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM

Spinocerebellar ataxias caused by polyglutamine expansions: A review of therapeutic strategies

(2008) Benjamin R. Underwood et al.   CEREBELLUM

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM

Analysis of segregation patterns in Machado–Joseph disease pedigrees

(2008) Conceição Bettencourt et al.   JOURNAL OF HUMAN GENETICS

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)

(2008) Conceição Bettencourt et al.   JOURNAL OF HUMAN GENETICS

Homozygosity Enhances Severity in Spinocerebellar Ataxia Type 3

(2008) Daniel R. Carvalho et al.   PEDIATRIC NEUROLOGY

Allele-Specific RNA Silencing of Mutant Ataxin-3 Mediates Neuroprotection in a Rat Model of Machado-Joseph Disease

(2008) Sandro Alves et al.   PLoS One