Results 21 to 30 of about 4,410 (162)
Reconstructing the History of Machado-Joseph Disease [PDF]
European Neurology, 2020 Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, was originally described in members of the families of Machado, Thomas, and Joseph from São Miguel Island, Azores, Portugal, in 1972. The purpose of this article is to present previous descriptions of hereditary ataxia resembling the heterogeneous phenotypic intra-familiar presentation of ...
Alex Tiburtino Meira +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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Pharmacological Therapies for Machado-Joseph Disease [PDF]
, 2018 Machado-Joseph disease (MJD), also known as Spinocerebellar Ataxia type 3 (SCA3), is the most common autosomal dominant ataxia worldwide. MJD integrates a large group of disorders known as polyglutamine diseases (polyQ). To date, no effective treatment exists for MJD and other polyQ diseases.
Silva, Sara Carina Duarte, Maciel, P.
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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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Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado-Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies. [PDF]
Int J Mol Sci, 2020 Chen YS, Hong ZX, Lin SZ, Harn HJ.
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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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Autonomic Dysfunction in Machado-Joseph Disease [PDF]
Archives of Neurology, 2005 Machado-Joseph disease is an autosomal dominant spinocerebellar ataxia with expanded trinucleotide repeats. Although autonomic nervous system degeneration was documented in postmortem reports, the autonomic dysfunction in patients with Machado-Joseph disease, either in clinical analysis or electrophysiological investigations, has not yet been studied ...
Tu-Hsueh, Yeh +6 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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Pediatric Neurology Briefs, 1996 The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie ...
J Gordon Millichap
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Toward understanding Machado–Joseph disease [PDF]
Progress in Neurobiology, 2012 Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common inherited spinocerebellar ataxia and one of many polyglutamine neurodegenerative diseases. In MJD, a CAG repeat expansion encodes an abnormally long polyglutamine (polyQ) tract in the disease protein, ATXN3. Here we review MJD, focusing primarily on the
Maria do Carmo, Costa, Henry L, Paulson
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