Results 21 to 30 of about 5,061 (184)

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   +3 more sources

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease. [PDF]

Hum Genet
Sidky AM, Melo ARV, Kay TT, Raposo M, Lima M, Monckton DG.   +5 more
europepmc   +3 more sources

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   +3 more sources

Machado-Joseph disease type 3 [PDF]

, 2020
INSERM
openalex   +2 more sources

A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III

Journal of Aziz Fatimah Medical and Dental College, 2023
Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally.
Muhammad Sohail Ajmal Ghoauri , Nauman Ismat Butt, Dur-e-Sabeeh, Muhammad Bilal Rasheed, Muhammad Umair Javed, Fahmina Ashfaq   +5 more
doaj   +1 more source

Machado-Joseph disease type 1 [PDF]

, 2020
INSERM
openalex   +2 more sources

Pasien Spinocerebellar Ataxia 3 (SCA3) dengan neuropati perifer di Indonesia : laporan kasus

JKS (Jurnal Kedokteran Syiah Kuala), 2021
Rationale: Spinocerebellar ataxia (SCA) 3, also known as Machado-Joseph Disease (MJD), is a neurodegenerative disease which involves cerebellum and its afferent and efferent pathways.
Iin Pusparini
doaj   +1 more source

Toward understanding Machado–Joseph disease [PDF]

Progress in Neurobiology, 2012
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common inherited spinocerebellar ataxia and one of many polyglutamine neurodegenerative diseases. In MJD, a CAG repeat expansion encodes an abnormally long polyglutamine (polyQ) tract in the disease protein, ATXN3. Here we review MJD, focusing primarily on the
Maria do Carmo, Costa, Henry L, Paulson
openaire   +2 more sources

Machado-Joseph Deubiquitinases: From Cellular Functions to Potential Therapy Targets

Frontiers in Pharmacology, 2020
Ubiquitination is known as important post-translational modification in cancer-related pathways. Human deubiquitinases (DUBs), with functions of modulating the ubiquitination process, are a family with about 100 proteins.
Chenming Zeng, Chenxi Zhao, Fujing Ge, Yuekang Li, Ji Cao, Meidan Ying, Jinjian Lu, Qiaojun He, Bo Yang, Xiaoyang Dai, Hong Zhu   +10 more
doaj   +1 more source

Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

Arquivos de Neuro-Psiquiatria, 2012
Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease.
José Luiz Pedroso, Pedro Braga-Neto, João Radvany, Orlando Graziani Povoas Barsottini   +3 more
doaj   +1 more source