Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) gene☆ [PDF]
, 2004 Machado–Joseph disease (MJD) is a neurodegenerative disorder, caused by the expansion of the (CAG)n tract in the MJD gene. This encodes the protein ataxin-3, of unknown function.
Maria do Carmo Costa +5 more
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NATURAL SELECTION AT THE MJD LOCUS: PHENOTYPIC DIVERSITY, SURVIVAL AND FERTILITY AMONG MACHADO-JOSEPH DISEASE PATIENTS FROM THE AZORES [PDF]
, 2001 Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset, associated with the expansion of a (CAG)n tract in the coding region of the causative gene, localized on 14q32.1.
Manuela Lima +5 more
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Biomedicines, 2023 Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal ...
Manuela Lima +14 more
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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
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Multi-wavelength variability and broadband SED modeling of BL Lac during a bright flaring period MJD 59000-59943 [PDF]
, 2023 We carried a detailed temporal and spectral study of the BL\,Lac by using the long-term \emph{Fermi}-LAT and \emph{Swift}-XRT/UVOT observations, during the period MJD\,59000-59943.
Zahir Shah
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The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful. [PDF]
PLoS ONE, 2014 Machado-Joseph disease (MJD) is an inherited neurodegenerative disease caused by an expanded CAG repeat in the ATXN3 gene. Although the principal genetic determinant of the age at onset (AAO) is the length of the expanded CAG repeat, the additional ...
Qi Zhou +5 more
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Differential mtDNA Damage Patterns in a Transgenic Mouse Model of Machado–Joseph Disease (MJD/SCA3)
, 2014 Mitochondrial dysfunction has been associated with late onset neurodegenerative disorders, among which is Machado-Joseph disease (MJD/SCA3). In a previous study, using a transgenic mouse model of MJD, we reported a decrease in mitochondrial DNA (mtDNA ...
Amanda Ramos +7 more
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Machado-Joseph disease versus hereditary spastic paraplegia: case report [PDF]
Arquivos de Neuro-Psiquiatria, 2001 Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients.
Hélio A. Ghizoni Teive +4 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
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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
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