Results 21 to 30 of about 4,240 (105)
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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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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Pediatric Neurology Briefs, 1994 A 22-year-old male of Portuguese Azorean descent, presenting at age 16 years with postural instability and falls and developing severe generalized dystonia by age 20 years, is reported from the Center for Research in Neurodegenerative Diseases ...
J Gordon Millichap
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Revista da Sociedade Brasileira de Fonoaudiologia, 2007 O objetivo deste estudo foi descrever os principais aspectos fonoaudiológicos relacionados à fala na doença de Machado-Joseph, em um indivíduo do sexo masculino, selecionado entre outros pacientes portadores desta doença com limitações significativas de ...
Angela Ruviaro Busanello +2 more
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Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease
Arquivos de Gastroenterologia, 2010 CONTEXT: In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy.
Sabrina Mello Alves Corrêa +4 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
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