Results 11 to 20 of about 6,842,722 (107)

Importin-8 silencing reduces Ataxin-3 aggregation and alleviates Machado-Joseph disease/spinocerebellar ataxia type 3. [PDF]

iScience
Dataset for: Importin-8 silencing reduces Ataxin-3 aggregation and alleviates Machado-Joseph disease/Spinocerebellar ataxia type 3 This repository contains the supplementary data and unprocessed raw datasets supporting the study of nucleocytoplasmic ...
Morgado Martins I, Sowa AS, Rufino-Ramos D, Duarte Lobo D, Leandro K, Vasconcelos-Ferreira A, Pereira D, Rieβ O, Schmidt T, Pereira de Almeida L.   +9 more
europepmc   +2 more sources

Trehalose alleviates the phenotype of Machado-Joseph disease mouse models. [PDF]

J Transl Med, 2020
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Santana MM, Paixão S, Cunha-Santos J, Silva TP, Trevino-Garcia A, Gaspar LS, Nóbrega C, Nobre RJ, Cavadas C, Greif H, Pereira de Almeida L.   +10 more
europepmc   +2 more sources

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]

, 2008
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen, Bezprozvanny, I, Nelson, O, Hammer, R, Tu, H, Nukina, N, O. Nelson, N. Nukina, Chen, X, Tang, TS, T.-S. Tang, Pook, M, H. Tu, R. Hammer, I. Bezprozvanny, M. Pook   +15 more
core   +1 more source

ULK overexpression mitigates motor deficits and neuropathology in mouse models of Machado-Joseph disease. [PDF]

Mol Ther, 2022
Machado-Joseph disease (MJD) is a fatal neurodegenerative disorder clinically characterized by prominent ataxia. It is caused by an expansion of a CAG trinucleotide in ATXN3, translating into an expanded polyglutamine (polyQ) tract in the ATXN3 protein ...
Vasconcelos-Ferreira A, Martins IM, Lobo D, Pereira D, Lopes MM, Faro R, Lopes SM, Verbeek D, Schmidt T, Nóbrega C, Pereira de Almeida L.   +10 more
europepmc   +3 more sources

Disartria e doença de Machado-Joseph: relato de caso 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 ...
Busanello,Angela Ruviaro, Castro,Simone Augusta Finard de Nisa e, Simone Augusta Finard de Nisa e Castro, Angela Ruviaro Busanello, Alberto Augusto Alves Rosa, Rosa,Alberto Augusto Alves   +5 more
core   +1 more source

Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease [PDF]

, 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.
Rubens A. A Sallum, Sabrina Mello Alves Corrêa, GURGEL, Jonas Lírio, Jonas Lírio Gurgel, Valter Nilton Felix, FELIX, Valter Nilton, Ivan Cecconello, SALLUM, Rubens A. A, CECCONELLO, Ivan, CORRÊA, Sabrina Mello Alves   +9 more
core   +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

Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report [PDF]

, 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, Liao Kwong-Kum, Kwong-Kum Liao, Yang-Ching Lo, Soong Bing-Wen, Lo Yang-Ching, Bing-Wen Soong, Yi-Chung Lee   +7 more
core   +2 more sources