Results 191 to 200 of about 6,741 (226)

Macrophage metabolic rewiring rejuvenates muscle Raman signatures and cellular remodeling during regrowth in aged mice. [PDF]

JCI Insight
Fennel ZJ, Kosari N, Bourrant PE, Yee EM, Castro RJ, Kurian AS, Palmer J, Christensen M, Funai K, O'Connell RM, Zhou A, Drummond MJ.   +11 more
europepmc   +1 more source

Leveraging MJD as a Dark Matter and BSM experiment

P.-H. Chu
openalex   +1 more source

Freqüências alélicas dos loci de duas doenças neurodegenerativas SCA1 e MJD em populações brasileiras

, 2000
Cláudia Emília Vieira Wiezel, Z Arpini-Sampaio, Maria do Carmo Tomitão Canas, Aguinaldo Luíz Simões   +3 more
openalex   +1 more source

Human Toxicology and Effects of Nanoparticles

, 2009
Johnston, H, Stone, V, Clift, MJD
core  

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype [PDF]

Annals of Neurology, 2001
Contains fulltext : 166942.pdf (Publisher’s version ) (Open Access)We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado-Joseph Disease/Spinocerebellar Ataxia (MJD/SCA3).
Nens Van Alfen, Richard J Sinke, M J Zwarts   +2 more
exaly   +5 more sources

The genomic structure and expression of MJD, the Machado-Joseph disease gene [PDF]

Journal of Human Genetics, 2001
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1.
Masahira Hattori, A Toyoda, Kazuo Ishii   +2 more
exaly   +3 more sources

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3) [PDF]

BMC Neurology, 2014
Machado-Joseph disease (MJD), also named spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. Although nystagmus is one of the most frequently reported ocular alterations in MJD patients its behaviour during the course of the disease, namely in its early stages, has only recently started to be investigated.
Mafalda Raposo, João Vasconcelos, Conceição Bettencourt   +2 more
exaly   +3 more sources

Machado‐Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population [PDF]

Annals of Human Genetics, 2008
Background: Machado-Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation and meiotic drift. However, fitness of MJD carriers has been little studied.
Maria Luiza Saraiva-Pereira, Isabel Silveira, Jorge Sequeiros   +2 more
exaly   +1 more source

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Safety and efficacy of valproic acid treatment in SCA3/MJD patients

Parkinsonism and Related Disorders, 2016
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of 10 known polyglutamine (polyQ) diseases. In Drosophila and rat models of polyQ diseases, histone deacetylation (HDAC) inhibitors improved locomotor function and survival time by increasing histone acetylation levels and modulating gene expression.
Li-Fang Lei, Guoping Yang, De-Maw Chuang   +2 more
exaly   +3 more sources

MicroRNA profiling in the serums of SCA3/MJD patients

International Journal of Neuroscience, 2013
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is the most common type of spinocerebellar ataxia in China. However, the pathogenesis of SCA3/MJD is still unknown. MicroRNAs (miRNAs) have been repeatedly demonstrated to exist in human peripheral serum in a bio-stable form and have been shown to be useful biomarkers for other ...
Yuting, Shi, Fengzhen, Huang, Beisha, Tang, Jiada, Li, Junling, Wang, Lu, Shen, Kun, Xia, Hong, Jiang   +7 more
openaire   +2 more sources