Results 71 to 80 of about 6,842,722 (107)

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

Neuropeptide Y (NPY) intranasal delivery alleviates Machado-Joseph disease. [PDF]

Sci Rep, 2021
Duarte-Neves J, Cavadas C, Pereira de Almeida L.   +2 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

Motor Nerve Hyperexcitability And Muscle Cramps In Machado-joseph Disease - Reply

, 2015
[No abstract available]661139140Kanai, K., Kuwabara, S., Arai, K., Sung, J.Y., Ogawara, K., Hattori, T., Muscle cramp in Machado-Joseph disease: Altered motor axonal excitability properties and mexiletine treatment (2003) Brain, 126 (PART 4), pp.
D'Abreu A., Franca Jr. M.C., Nucci A., Lopes-Cendes I.   +3 more
core  

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

PolyQ-expanded ataxin-3 is associated with mitochondrial alterations in Machado-Joseph disease. [PDF]

Dis Model Mech
Simó I, Robinson KJ, Kam JY, Wang Y, Kuriakose A, Paric E, Cheng F, Potapenko A, An Y, Watchon M, Lee A, Laird AS.   +11 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