Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? [PDF]
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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State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change [PDF]
Genetics and Molecular Biology, 2019 Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment.
Gabriel Vasata Furtado +5 more
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Sentinel Node Biopsy and Lumpectomy in a Patient with Machado–Joseph Disease [PDF]
Case Reports in Anesthesiology, 2019 Spinocerebellar ataxia 3 (SCA3), also known as Machado–Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time.
N. N. Aldawoodi +3 more
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T2-hyperintensity in the internal globus pallidus in Machado-Joseph disease [PDF]
Arquivos de Neuro-Psiquiatria, 2023 Alex T. Meira +6 more
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A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III
Journal of Aziz Fatimah Medical and Dental College, 2023 Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally.
Muhammad Sohail Ajmal Ghoauri +5 more
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RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. [PDF]
PLoS ONE, 2014 Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatment of
Clévio Nóbrega +5 more
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Pasien Spinocerebellar Ataxia 3 (SCA3) dengan neuropati perifer di Indonesia : laporan kasus
JKS (Jurnal Kedokteran Syiah Kuala), 2021 Rationale: Spinocerebellar ataxia (SCA) 3, also known as Machado-Joseph Disease (MJD), is a neurodegenerative disease which involves cerebellum and its afferent and efferent pathways.
Iin Pusparini
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Machado-Joseph Deubiquitinases: From Cellular Functions to Potential Therapy Targets
Frontiers in Pharmacology, 2020 Ubiquitination is known as important post-translational modification in cancer-related pathways. Human deubiquitinases (DUBs), with functions of modulating the ubiquitination process, are a family with about 100 proteins.
Chenming Zeng +10 more
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Arquivos de Neuro-Psiquiatria, 2012 Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease.
José Luiz Pedroso +3 more
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Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report
Journal of Medical Case Reports, 2011 Introduction Chronic pain is a common problem for patients with Machado-Joseph disease. Most of the chronic pain in Machado-Joseph disease has been reported to be of musculoskeletal origin, but now there seems to be different chronic pain in patients ...
Lee Yi-Chung +3 more
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