Results 21 to 30 of about 4,884 (187)

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

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

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

Clinical evaluation of MJD-1741 for herpes simplex.

Nishi Nihon Hifuka, 1990
ビダラビン3%軟膏(MJD-1741)の単純疱疹に対する有効性および安全性を検討した。総症例数は38例, その内訳は, 口唇ヘルペス31例, カポジー水痘様発疹症2例, 陰部疱疹1例, 顔面に発症した単純疱疹2例, 臀部, 手·口唇部に発症した単純疱疹各1例であつた。有効率は, 「有効」以上が50.0%, 「やや有効」以上が81.6%であつた。なお, 単純疱疹の既往歴を有する患者に対して, MJD-1741使用による今回の病相における経過の印象を調査した結果, 過去の病相に比較し「短かつた」または「よかつた」と答えた患者は, 25例中16例(64.0%)であり, 「長かつた」または「悪かつた」が2例(8.0%)とMJD-1741の印象は良い結果であつた。また, 副作用は認められず ...
ANDO, Masaaki, KOKUBU, Jun, SATO, Hidetugu, SHIMIZU, Tadamichi, MURAMATU, Ryuichi, YAMANAKA, Kiyomitu, OHKAWARA, Akira   +6 more
openaire   +1 more source

'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

Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease. [PDF]

PLoS ONE, 2008
Recent studies have demonstrated that RNAi is a promising approach for treating autosomal dominant disorders. However, discrimination between wild-type and mutant transcripts is essential, to preserve wild-type expression and function.
Sandro Alves, Isabel Nascimento-Ferreira, Gwennaëlle Auregan, Raymonde Hassig, Noëlle Dufour, Emmanuel Brouillet, Maria C Pedroso de Lima, Philippe Hantraye, Luís Pereira de Almeida, Nicole Déglon   +9 more
doaj   +1 more source

Evaluation of emission indices and air quality implications of liquefied petroleum gas burners

Heliyon, 2020
Major cities in Nigeria has adopted the use of liquefied petroleum gas (LPG) as their main source for domestic cooking, however, this adoption led to different designs of LPG burners in Nigeria market.
Daniel Olawale Oke, Bamidele Sunday Fakinle, Jacob Ademola Sonibare, Funso Alaba Akeredolu   +3 more
doaj   +1 more source

Feasibility and impact of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia

Rural and Remote Health
Introduction: Physical activity and lifestyle programs are scarce for people with hereditary ataxias and neurodegenerative diseases. Aboriginal families in the Top End of Australia who have lived with Machado-Joseph disease (MJD) for generations co ...
Jennifer Carr, Joyce Lalara, Gayangwa Lalara, Gwen Lalara, Bronwyn Daniels, Alan Clough, Anne Lowell, Ruth Barker   +7 more
doaj   +1 more source