Results 101 to 110 of about 5,061 (184)

Pathophysiological interplay between O-GlcNAc transferase and the Machado-Joseph disease protein ataxin-3. [PDF]

Proc Natl Acad Sci U S A, 2021
Pereira Sena P, Weber JJ, Watchon M, Robinson KJ, Wassouf Z, Hauser S, Helm J, Abeditashi M, Schmidt J, Hübener-Schmid J, Schöls L, Laird AS, Riess O, Schmidt T.   +13 more
europepmc   +1 more source

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease [PDF]

, 1995
Giovanni Stévanin, E Cassa, Géraldine Cancel‐Tassin, N. Abbas, Alexandra Dürr, Edymar Jardim, Y. Agid, P.S. Sousa, Alexis Brice   +8 more
openalex   +1 more source

Muscle cramp in Machado-Joseph disease: Altered motor axonal excitability properties and mexiletine treatment [PDF]

, 2003
Kazuaki Kanai
openalex   +1 more source

The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies [PDF]

, 2003
Cláudia Emília Vieira Wiezel, Maria do Carmo Tomitão Canas, Aguinaldo Luíz Simões   +2 more
openalex   +1 more source

Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal. [PDF]

J Community Genet, 2022
Couto D, Sousa L, Sequeiros J, Lima M, Mendes Á.   +4 more
europepmc   +1 more source

The Machado–Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53

, 2016
Hongmei Liu, Xiaoling Li, Guozhu Ning, Shu Zhu, Xiaolu Ma, Xiuli Liu, Chunying Liu, Min Huang, Ina Schmitt, Ullrich Wüllner, Yamei Niu, Caixia Guo, Qiang Wang, Tie-Shan Tang   +13 more
openalex   +2 more sources

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

Mol Ther, 2022
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   +1 more source

Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers. [PDF]

Neurobiol Sleep Circadian Rhythms, 2022
LaGrappe D, Massey L, Kruavit A, Howarth T, Lalara G, Daniels B, Wunungmurra JG, Flavell K, Barker R, Flavell H, Heraganahally SS.   +10 more
europepmc   +1 more source

Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease

, 2008
Sandro Alves, Etienne Régulier, Isabel Nascimento-Ferreira, Raymonde Hässig, Noëlle Dufour, Arnulf H. Koeppen, Ana Luı́sa Carvalho, Sérgio Simões, Maria C. Pedroso de Lima, Emmanuel Brouillet, Veronica Colomer Gould, Nicole Déglon, Luís Pereira de Almeida   +12 more
openalex   +2 more sources

Circadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease. [PDF]

Brain
Ribeiro RFN, Pereira D, Lopes SM, Reis T, Silva P, Lobo DD, Gaspar LS, Durães J, Fernandes AR, Ferreira-Marques M, Carvalhas-Almeida C, Peça J, Álvaro AR, Santana I, Santana MM, Silva MMC, Pereira de Almeida L, Cavadas C.   +17 more
europepmc   +1 more source