Results 21 to 30 of about 4,259 (123)
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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Stem Cell Research, 2020 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is autosomal-dominant neurodegenerative disease caused by an expansion of polyglutamine-encoding CAG repeats in the ATXN3 gene.
Agata Ciolak +3 more
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Stem Cell Research, 2022 Spinal cerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the result of abnormal repeat amplification of CAG of the ATXN3 gene.
Yang Yinghong +6 more
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Neuropeptide Y (NPY) as a therapeutic target for neurodegenerative diseases
Neurobiology of Disease, 2016 Neuropeptide Y (NPY) and NPY receptors are widely expressed in the mammalian central nervous system. Studies in both humans and rodent models revealed that brain NPY levels are altered in some neurodegenerative disorders, such as Alzheimer's disease ...
Joana Duarte-Neves +2 more
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Stem Cell Research, 2020 Using a non-integrative reprogramming method, a human iPSC Line, ZZUNEUi002-A, was generated from a 22-year-old male patient with spinocerebellar ataxia type 3 /Machado-Joseph disease (SCA3/MJD).
Liting Wei +6 more
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SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity. [PDF]
PLoS ONE, 2013 Post-translational modification by SUMO was proposed to modulate the pathogenesis of several neurodegenerative diseases. Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease caused by polyQ ...
Ya-Fang Zhou +11 more
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