Results 11 to 20 of about 4,884 (187)
Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice [PDF]
International Journal of Genomics, 2018 Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long +15 more
doaj +3 more sources
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report [PDF]
BMC Neurology, 2011 Background Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene.
Vasconcelos João +9 more
doaj +5 more sources
Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.
PLoS ONE, 2015 Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common. A certain causative gene identified for a particular disease may be found to play roles in more than one neurodegenerative ...
Chunrong Wang +13 more
doaj +4 more sources
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts [PDF]
Human Molecular Genetics, 2005 The expanded CAG tract diseases are a heterogeneous group of late-onset neurodegenerative disorders characterized by the accumulation of insoluble protein material and premature neuronal cell death. Recent work has provided support for several mechanisms that may account for neurodegeneration, but no unifying mechanism has emerged.
André, Toulouse +5 more
openaire +2 more sources
The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD
Journal of Neurology, 2023 The natural history of magnetic resonance imaging (MRI) in pre-ataxic stages of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is not well known. We report cross-sectional and longitudinal data obtained at this stage.Baseline (follow-up) observations included 32 (17) pre-ataxic carriers (SARA
Camila Maria de Oliveira +13 more
openaire +2 more sources
Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. [PDF]
PLoS ONE, 2015 Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The
Zhe Long +14 more
doaj +1 more source
Molecular Brain, 2021 Machado-Joseph disease (MJD, also known as spinocerebellar ataxia type 3) is a fatal neurodegenerative disease that impairs control and coordination of movement.
Maxinne Watchon +12 more
doaj +1 more source
Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?
Frontiers in Genetics, 2019 Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1–5/100,000. To this date, two major ancestral lineages have been found throughout the world.
Tianjiao Li +22 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 +10 more
doaj +1 more source
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 +7 more
doaj +1 more source