Results 81 to 90 of about 4,240 (105)

The Machado-Joseph disease deubiquitylase ataxin-3 interacts with LC3C/GABARAP and promotes autophagy. [PDF]

Aging Cell, 2020
Herzog LK, Kevei É, Marchante R, Böttcher C, Bindesbøll C, Lystad AH, Pfeiffer A, Gierisch ME, Salomons FA, Simonsen A, Hoppe T, Dantuma NP.   +11 more
europepmc   +1 more source

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)_n Repeat Expansion. [PDF]

Int J Mol Sci
Lian M, Tan VJ, Taguchi R, Zhao M, Phang GP, Tan AS, Liu S, Lee CG, Chong SS.   +8 more
europepmc   +1 more source

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. [PDF]

Aging (Albany NY), 2020
Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Dion PA, Rouleau GA.   +16 more
europepmc   +1 more source

Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal

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

Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease. [PDF]

Hum Mol Genet, 2020
Weber JJ, Haas E, Maringer Y, Hauser S, Casadei NLP, Chishti AH, Riess O, Hübener-Schmid J.   +7 more
europepmc   +1 more source

Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado-Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies. [PDF]

Int J Mol Sci, 2020
Chen YS, Hong ZX, Lin SZ, Harn HJ.
europepmc   +1 more source

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor. [PDF]

Eur J Hum Genet, 2019
Sharony R, Martins S, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR.   +6 more
europepmc   +1 more source

Development of an AAV-Based MicroRNA Gene Therapy to Treat Machado-Joseph Disease. [PDF]

Mol Ther Methods Clin Dev, 2019
Martier R, Sogorb-Gonzalez M, Stricker-Shaver J, Hübener-Schmid J, Keskin S, Klima J, Toonen LJ, Juhas S, Juhasova J, Ellederova Z, Motlik J, Haas E, van Deventer S, Konstantinova P, Nguyen HP, Evers MM.   +15 more
europepmc   +1 more source

Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease. [PDF]

Mol Neurobiol, 2019
Ashraf NS, Duarte-Silva S, Shaw ED, Maciel P, Paulson HL, Teixeira-Castro A, Costa MDC.   +6 more
europepmc   +1 more source

Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis? [PDF]

Open Neurol J, 2018
Catai LMP, Camargo CHF, Moro A, Ribas G, Raskin S, Teive HAG.   +5 more
europepmc   +1 more source