Results 41 to 50 of about 6,741 (226)

Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes [PDF]

, 2014
Twelve neurological disorders are caused by gene-specific CAG/CTG repeat expansions that are highly unstable upon transmission to offspring. This intergenerational repeat instability is clinically relevant since disease onset, progression and severity ...
Sandra Martins, Christopher E. Pearson, Paula Coutinho, Sylvie Provost, António Amorim, Marie‐Pierre Dubé, Jorge Sequeiros, Guy A. Rouleau   +7 more
openalex   +3 more sources

Staying Strong Toolbox: Co-design of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia.

PLoS ONE, 2021
Physical activity has positive health implications for individuals living with neurodegenerative diseases. The success of physical activity programs, particularly in culturally and linguistically diverse populations, is typically dependent on their ...
Jennifer J Carr, Joyce Lalara, Gayangwa Lalara, Gwen Lalara, Bronwyn Daniels, Alan R Clough, Anne Lowell, Ruth N Barker   +7 more
doaj   +1 more source

Trehalose alleviates the phenotype of Machado–Joseph disease mouse models

Journal of Translational Medicine, 2020
Background Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Magda M. Santana, Susana Paixão, Janete Cunha-Santos, Teresa Pereira Silva, Allyson Trevino-Garcia, Laetitia S. Gaspar, Clévio Nóbrega, Rui Jorge Nobre, Cláudia Cavadas, Hagar Greif, Luís Pereira de Almeida   +10 more
doaj   +1 more source

Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease

Acta Neuropathologica Communications, 2022
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. Magnetic Resonance Imaging (MRI) and Proton Magnetic Resonance Spectroscopy (1H-MRS) provide promising non-invasive diagnostic and ...
Catarina Oliveira Miranda, Rui Jorge Nobre, Vitor Hugo Paiva, João Valente Duarte, João Castelhano, Lorena Itatí Petrella, José Sereno, Magda Santana, Sónia Afonso, Cristina Januário, Miguel Castelo-Branco, Luís Pereira de Almeida   +11 more
doaj   +1 more source

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

Neurobiology of Disease, 2022
Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance, suggesting the involvement of other factors ...
Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, João Vasconcelos, Teresa Kay, Maria Luiza Saraiva-Pereira, Marta D. Costa, Daniela Vilasboas-Campos, Bruno Filipe Bettencourt, Jácome Bruges-Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patrícia Maciel, Manuela Lima   +18 more
doaj   +1 more source

Chinese homozygous Machado–Joseph disease (MJD)/SCA3: a case report [PDF]

Journal of Human Genetics, 2015
A young Chinese male patient was identified as homozygous for Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3. This patient had a 4-year medical history mainly presenting severe ataxia, abnormal eye movement and pyramidal signs. Magnetic resonance imaging of the brain and cervical spinal cord revealed no obvious abnormality despite the ...
Sheng, Zeng, Junsheng, Zeng, Miao, He, Xianfeng, Zeng, Yao, Zhou, Zhen, Liu, Hong, Jiang, Beisha, Tang, Junling, Wang   +8 more
openaire   +2 more sources

Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado–Joseph Disease

Cells, 2023
Mitochondrial dysfunction has been described in many neurodegenerative disorders; however, there is less information regarding mitochondrial deficits in Machado–Joseph disease (MJD), a polyglutamine (polyQ) disorder caused by CAG repeat expansion in the ...
Filipa Almeida, Ildete L. Ferreira, Luana Naia, Daniela Marinho, Ana Catarina Vilaça-Ferreira, Marta D. Costa, Sara Duarte-Silva, Patrícia Maciel, A. Cristina Rego   +8 more
doaj   +1 more source

Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3 [PDF]

Journal of Movement Disorders, 2019
Objective Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has not been studied.
Aline MS Farias, Simone Appenzeller, Marcondes C França, Alberto RM Martinez, Elba E Etchebehere, Thiago F Souza, Allan O Santos   +6 more
doaj   +1 more source

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus [PDF]

, 2019
At least 40 human diseases are associated with repeat expansions; yet, the mutational origin and instability mechanisms remain unknown for most of them.
Inês P. D. Costa, Beatriz C. Almeida, Jorge Sequeiros, António Amorim, Sandra Martins   +4 more
openalex   +3 more sources

'Staying strong on the inside and outside' to keep walking and moving around: Perspectives from Aboriginal people with Machado Joseph Disease and their families from the Groote Eylandt Archipelago, Australia.

PLoS ONE, 2019
Machado Joseph Disease (MJD) (spinocerebellar ataxia 3) is a hereditary neurodegenerative disease causing progressive ataxia and loss of mobility. It is the most common spinocerebellar ataxia worldwide.
Jennifer J Carr, Joyce Lalara, Gayangwa Lalara, Gloria O'Hare, Libby Massey, Nick Kenny, Kate E Pope, Alan R Clough, Anne Lowell, Ruth N Barker   +9 more
doaj   +1 more source