Results 131 to 140 of about 4,410 (162)

Machado–Joseph disease in three Scandinavian families

Journal of the Neurological Sciences, 1998
Machado-Joseph disease (MJD) is an autosomal dominantly inherited neurodegenerative disorder characterized by varying age of onset and pronounced phenotypic heterogeneity. The clinical core features include gait ataxia, external ophthalmoplegia, nystagmus, and bulging eyes. Recently, Kawagushi et al. (1994) cloned the MJD1 gene on chromosome 14 and MJD
Løkkegaard, Thomas, Nielsen, J.E., Hasholt, Lis, Fenger, Kirsten, Werdelin, L., Tranebjærg, Lisbeth, Lauritzen, Martin, Colding-Jørgensen, Eskild, Grønbech-Jensen, M., Henriksen, O.A., Sørensen, Sven Asger   +10 more
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Machado-Joseph-Azorean Disease

Archives of Neurology, 1984
In a ten-year study of Machado-Joseph-Azorean disease (MJAD), three distinct syndromes emerged: ataxia syndrome (11 patients), ataxia-motor neuron-extrapyramidal syndrome (four), and ataxia-motor neuron-extrapyramidal syndrome (two). Three patients had such advanced disease that classification was not possible.
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Homozygous inheritance of the Machado‐Joseph disease gene

Annals of Neurology, 1994
AbstractWe report a patient presenting at age 16 years with postural instability and falls who developed severe generalized dystonia by the age of 20 years. He was the product of a consanguineous marriage. Maternal grandfather and paternal grandmother (brother and sister) living in the Azores were both affected by Machado‐Joseph disease (MJD) beginning
A E, Lang, E A, Rogaeva, T, Tsuda, J, Hutterer, P, St George-Hyslop   +4 more
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Palliative Care Approaches in Machado–Joseph Disease

Journal of Palliative Medicine
Background: Spinocerebellar ataxias (SCA) are a rare group of neurodegenerative disorders. Machado–Joseph disease (MJD) is the most prevalent autosomal dominant ataxia. No disease-modifying treatment exists; thus, a palliative approach is recommended upon diagnosis.
Mara Arruda, Carolina Vidal, Maria João Serpa, António Gonçalves, Rosário Vidal   +4 more
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Excessive fragmentary myoclonus in Machado–Joseph disease

Sleep Medicine, 2014
Machado-Joseph disease (MJD) is a neurodegenerative disease which usually presents several clinical findings including cerebellar ataxia and other extracerebellar features, such as Parkinsonism, dystonia, peripheral neuropathy, and lower motor neuron disease.
Diogo Fernandes, dos Santos, José Luiz, Pedroso, Pedro, Braga-Neto, Giselle Melo Fontes, Silva, Luciane Bizari Coin, de Carvalho, Lucila B F, Prado, Orlando Graziani P, Barsottini, Gilmar Fernandes, do Prado   +7 more
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Executive and emotional dysfunction in Machado‐Joseph disease

Movement Disorders, 2002
AbstractMachado‐Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia. Few studies have examined the neuropsychological and neurobehavioral profiles of patients with MJD. In this study, six individuals with MJD were given a battery of neuropsychological tests.
Tricia M, Zawacki, Janet, Grace, Joseph H, Friedman, Lewis, Sudarsky   +3 more
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[Machado Joseph disease].

Servir (Lisbon, Portugal), 2006
Andreia, Mendes, Carina, Lima, Carla, Medeiros, Cláudia, Azevedo, Natércia, Santos   +4 more
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Molecular analyses of Machado-Joseph disease

Cytogenetic and Genome Research, 2003
T, Kobayashi, A, Kakizuka
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Pathophysiological interplay between O -GlcNAc transferase and the Machado–Joseph disease protein ataxin-3

Proceedings of the National Academy of Sciences of the United States of America, 2021
Ludger Schols, Jana Schmidt, Katherine Robinson   +2 more
exaly  

Eyelid dystonia in Machado‐Joseph Disease

Movement Disorders, 2000
F, Cardoso, J T, de Oliveira, M, Puccioni-Sohler, A R, Fernandes, J P, de Mattos, I, Lopes-Cendes   +5 more
openaire   +2 more sources