Results 81 to 90 of about 6,842,722 (107)

Extracellular vesicles-associated AAVs for the treatment of Machado-Joseph disease. [PDF]

Mol Ther
Henriques C, Albuquerque P, Rufino-Ramos D, Lopes MM, Leandro K, Miranda CO, Almeida R, Lopes-Gabriel G, de Sousa-Lourenço J, Lopes SM, Gaspar LS, Lobo DD, Silva AC, Ribeiro-Rodrigues TM, Girão H, Gomes CM, Baganha R, Duarte S, Maguire CA, Santana MM, Pereira de Almeida L, Nobre RJ.   +21 more
europepmc   +1 more source

Investigating the pathogenic role of calpain proteases and the therapeutic potential of their inhibition in mice modelling Machado-Joseph disease. [PDF]

Hum Mol Genet
Robinson KJ, Wright AL, Watchon M, Kuriakose A, Simo I, Laird AS.   +5 more
europepmc   +1 more source

Rural Environment as a Risk Factor for the Age at Onset of Machado-Joseph Disease. [PDF]

Mov Disord Clin Pract
Martins AC, Furtado GV, Pinheiro JDS, Saraiva-Pereira ML, Jardim LB.   +4 more
europepmc   +1 more source

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease. [PDF]

Ann Neurol
Ferreira AF, Raposo M, Shaw ED, Liu L, Vasconcelos J, Kay T, Bettencourt C, Saraiva-Pereira ML, Jardim LB, Costa MDC, Lima M.   +10 more
europepmc   +1 more source

Cerebellar Rotation Abnormalities Observed in Machado-Joseph Disease. [PDF]

Intern Med, 2020
Nomura T, Iwata I, Harada T, Yabe I.
europepmc   +1 more source

Treatment of neurological pathology and inflammation in Machado-Joseph disease through in vivo self-assembled siRNA. [PDF]

Brain
Li Z, Du X, Yang Y, Zhang L, Chen P, Kan Y, Pan J, Lin L, Liu D, Jiang X, Zhang CY, Pei Z, Chen X.   +12 more
europepmc   +1 more source

The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. [PDF]

Acta Neuropathol
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, Saraiva-Pereira ML, França MC, Gordon CR, Zaltzman R, Cornejo-Olivas MR, van de Warrenburg BPC, Durr A, Brice A, Bauer P, Klockgether T, Schöls L, Riess O, EUROSCA Network, Schmidt T.   +28 more
europepmc   +1 more source

From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal. [PDF]

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

Gene editing technologies to Machado-Joseph disease

Tese de Doutoramento em Biologia Experimental e Biomedicina, Biotecnologia e Saúde, apresentada ao Instituto de Investigação Interdisciplinar da Universidade de Coimbra.Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is the most ...
Lopes, Sara Isabel Monteiro
core  

Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers. [PDF]

Epigenetics
Teves L, Vieira Melo AR, Ferreira AF, Raposo M, Lemos C, Bettencourt C, Lima M.   +6 more
europepmc   +1 more source