Results 41 to 50 of about 6,842,995 (191)

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, Fabio Massaiti Iwamoto, Carlos Henrique Camargo, Iscia Lopes-Cendes, Lineu Cesar Werneck   +4 more
doaj   +1 more source

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, Chin-Song, Lu, Yah-Huei Wu, Chou, Chok-Chean, Chong, Tony, Wu, Nai-Hui, Han, Rou-Shayn, Chen   +6 more
openaire   +2 more sources

Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts

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, Wlodzimierz J. Krzyzosiak, Emilia Kozlowska, Agnieszka Fiszer   +3 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines, GZHMCi009-A and GZHMCi010-A, derived from peripheral blood mononuclear cells of two SCA3 patients with 14/74 CAG repeats of the ATXN3 mutation

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, Luo Qian, Song Bing, Xie Yingjun, He Wenzhi, Chen Bangzhu, Sun Xiaofang   +6 more
doaj   +1 more source

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, Luís Pereira de Almeida, Cláudia Cavadas   +2 more
doaj   +1 more source

Machado-Joseph disease presenting as severe asymmetric proximal neuropathy [PDF]

, 1997
Despite much effort, a 74 year old man with progressive proximal weakness and sensory disturbances due to axonal neuropathy remained a diagnostic problem. Investigation of his family disclosed an additional patient with a cerebellar syndrome and a family
Jöbsis, G. J., de Visser, M., Keizers, H., van Schaik, I.N., van Schaik, I. N., Vermeulen, M., Bolhuis, P.A., Bolhuis, P. A., Jöbsis, G.J.   +8 more
core   +2 more sources

Dysarthria in Machado-Joseph disease: case report [PDF]

, 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 ...
Rosa, Alberto Augusto Alves, Busanello, Angela Ruviaro, Castro, Simone Augusta Finard de Nisa e   +2 more
core   +1 more source

Nonmotor And Extracerebellar Features In Machado-joseph Disease: A Review

, 2015
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single ...
Saute J.A., Caramelli P., Jardim L.B., D'Abreu A., Braga-Neto P., Franca M.C., Barsottini O.G.P., Pedroso J.L., Saraiva-Pereira M.L., Teive H.A., Lopes-Cendes I.   +10 more
core   +2 more sources

Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi002-A) from a patient with spinocerebellar ataxia type 3

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, Jwei Zhang, Dingbang Chen, Li Feng, Chao Wu, Rui Wang, Xunhua Li   +6 more
doaj   +1 more source

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

, 2016
Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 gene.
Melo, Joana Barbosa, Gonçalves, António Freire, Carreira, Isabel Marques, Almeida, Luís Pereira de, Onofre, Isabel, Mendonça, Nuno, Nobre, Rui J., Lopes, Sara, Januário, Cristina   +8 more
core   +1 more source