A cost analysis of Machado-Joseph's disease (MJD). [PDF]
PLoS OneA rare disease is that with a low prevalence in the population. However, it is estimated that there are between 6,000 and 8,000 different types of rare diseases in the world and, generally, they are incurable and deadly. Machado-Joseph’s disease (MJD) is
Silva CD, França MTA, Neto GB.
europepmc +6 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 +5 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 +2 more sources
MJD and OTU deubiquitinating enzymes in Schistosoma mansoni.
Parasitology Research, 2015 The ubiquitination and deubiquitination of proteins can alter diverse cellular processes, such as proteolysis, trafficking, subcellular localisation, DNA repair, apoptosis and signal transduction.
Costa, Marcela Pereira +5 more
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Variation at the MJD locus in the major psychoses
American Journal of Medical Genetics, 1998 Expansion of triplet repeats has been seen to underlie several disorders that manifest anticipation. Clinical evidence suggests that anticipation occurs in the major psychoses.
Vijayakumar, M. +5 more
core +3 more sources
The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD [PDF]
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
openalex +3 more sources
Case report: Short-term efficacy and changes in 18F-FDG-PET with acute multi-target stimulation in spinocerebellar ataxia type 3 (SCA3/MJD) [PDF]
Frontiers in Neurology, 2023 Zhiqiang Cui, Xin Lou, Ruimin Wang
exaly +2 more sources
A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus [PDF]
European Journal of Human Genetics, 2006 Despite the intense debate around the repeat instability reported on the large group of neurological disorders caused by trinucleotide repeat expansions, little is known about the mutation process underlying alleles in the normal range that, ultimately ...
Francesc Calafell +9 more
core +5 more sources
Altered Levels of Proteins and Phosphoproteins, in the Absence of Early Causative Transcriptional Changes, Shape the Molecular Pathogenesis in the Brain of Young Presymptomatic Ki91 SCA3/MJD Mouse [PDF]
Molecular Neurobiology, 2019 Kalina Wiatr +2 more
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Vela Pulsar Observation Files Mjd 57985
, 2017 Files: 579859820.dat (PRESTO time series format) 579859820.inf (PRESTO time series format header) 579859820.png (image of result of PRESTO 'prepfold' processing) 579859820.ps (postscript result of PRESTO 'prepfold' processing) 579859820.tim ...
Steve Olney
core +4 more sources