Results 151 to 160 of about 5,061 (184)

Calpain-mediated proteolysis of ataxin-3 in Machado-Joseph disease

, 2012
Ana Teresa Simões
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Development and characterization of transgenic mouse models for Machado-Joseph disease

, 2010
Anabela Silva‐Fernandes
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Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

, 1995
Patrı́cia Maciel, Cláudia Gaspar, Anita L. DeStefano, Isabel Silveira, Paula Coutinho, João Radvany, D M Dawson, Lewis Sudarsky, J. Guimarães, José Leal Loureiro   +9 more
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Machado-Joseph-Azorean Disease in India

Archives of Neurology, 1986
Machado-Joseph-Azorean (MJA) disease is an autosomal-dominant multisystem motor degeneration (with cerebellar ataxia as an important manifestation) that is seen mainly in people of Portuguese descent. Recently, a family in Japan with probable MJA disease has been described.
N E, Bharucha, E P, Bharucha, S K, Bhabha   +2 more
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Machado-Joseph disease.

Clinical neuroscience (New York, N.Y.), 1995
Machado-Joseph disease (MJD) is a form of dominantly-inherited ataxia originally described in people of Azorean and Portuguese descent. The disorder has subsequently been identified in Japan, Brazil, Australia, and China. Average age of onset is 35 to 40.
L, Sudarsky, P, Coutinho
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Cognitive deficits in Machado‐Josephs disease

Annals of Neurology, 1996
AbstractCognitive function was examined in 6 patients with genetically confirmed Machado‐Joseph disease (MJD) and 15 age‐and ethnically matched controls using a series of subtests from the Cambridge Neuropsychological Test Automated Battery (CANTAB), a touch screen‐based testing system previously validated in a number of movement and neurodegenerative ...
P, Maruff, P, Tyler, T, Burt, B, Currie, C, Burns, J, Currie   +5 more
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Intrafamilial variability in Machado‐Joseph disease

Movement Disorders, 1996
AbstractDominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa‐responsive extrapyramidal disease to more purely ataxic syndromes
S H, Subramony, R D, Currier
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Machado-Joseph Disease or Not?

Archives of Neurology, 1991
To the Editor. —Eto and coworkers 1 describe 12 patients with a hereditary ataxia they believe most closely resembles spinopontine atrophy as described by Boiler and Segarra 2 in a large Rhode Island kindred, the family W, of English extraction. I have had contact with this family.
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Clinical Features of Machado-Joseph Disease

2018
Machado-Joseph disease (MJD) also known as Spinocerebellar ataxia type 3, is a hereditary neurodegenerative disease associated with severe clinical manifestations and premature death. Although rare, it is the most common autosomal dominant spinocerebellar ataxia worldwide and has a distinct geographic distribution, reaching peak prevalence in certain ...
Nuno, Mendonça, Marcondes C, França, António Freire, Gonçalves, Cristina, Januário   +3 more
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Sleep disorders in Machado–Joseph disease

Current Opinion in Psychiatry, 2016
This article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD).Pathological studies have clearly demonstrated that degenerative process in MJD is widespread in the nervous system, and not restricted to the cerebellum.
José Luiz, Pedroso, Pedro, Braga-Neto, Alberto R M, Martinez, Carlos R, Martins, Flávio M, Rezende Filho, Manoel A, Sobreira-Neto, Lucila B F, Prado, Gilmar F, do Prado, Marcondes C, França, Orlando G P, Barsottini   +9 more
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