Results 71 to 80 of about 4,259 (123)

Machado-Joseph disease: essay of definition

Arquivos de Neuro-Psiquiatria, 1995
Paula Coutinho
doaj   +1 more source

Remote Measurement of Functional Status in Pre-symptomatic and Symptomatic Individuals with Machado-Joseph Disease. [PDF]

Cerebellum, 2023
Miglorini EC, de Souza VHI, de Oliveira CM, Bolzan G, Saraiva-Pereira ML, Leotti VB, Jardim LB.   +6 more
europepmc   +1 more source

KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP. [PDF]

Cell Mol Life Sci, 2022
Abeditashi M, Weber JJ, Pereira Sena P, Velic A, Kalimeri M, Incebacak Eltemur RD, Schmidt J, Hübener-Schmid J, Hauser S, Macek B, Riess O, Schmidt T.   +11 more
europepmc   +1 more source

A Variant in Genes of the NPY System as Modifier Factor of Machado-Joseph Disease in the Chinese Population. [PDF]

Front Aging Neurosci, 2022
Ding D, Chen Z, Wang C, Tang X, Zhang L, Fang Q, Qiu R, Jiang H.   +7 more
europepmc   +1 more source

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

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

Familial spontaneous pneumothorax and Machado-Joseph disease. [PDF]

Oxf Med Case Reports, 2020
Pelayo J, Rau N, Lo K, Azmaiparashvili Z.   +3 more
europepmc   +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

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

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