Results 31 to 40 of about 6,842,995 (191)

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

Reconstructing the History of Machado-Joseph Disease [PDF]

European Neurology, 2020
Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, was originally described in members of the families of Machado, Thomas, and Joseph from São Miguel Island, Azores, Portugal, in 1972. The purpose of this article is to present previous descriptions of hereditary ataxia resembling the heterogeneous phenotypic intra-familiar presentation of ...
Alex Tiburtino Meira, José Luiz Pedroso, François Boller, Gustavo Leite Franklin, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive   +5 more
openaire   +2 more sources

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

Oxf Med Case Reports, 2020
ABSTRACT We report the first known case of a 42-year-old man diagnosed with spinocerebellar ataxia type 3, also known as Machado–Joseph disease (MJD), who presented with recurrent spontaneous pneumothorax. Six other family members affected with MJD died of the same pulmonary complication. To date, there has been no direct genetic linkage
Pelayo J, Rau N, Lo K, Azmaiparashvili Z.   +3 more
europepmc   +4 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

Pharmacological Therapies for Machado-Joseph Disease [PDF]

, 2018
Machado-Joseph disease (MJD), also known as Spinocerebellar Ataxia type 3 (SCA3), is the most common autosomal dominant ataxia worldwide. MJD integrates a large group of disorders known as polyglutamine diseases (polyQ). To date, no effective treatment exists for MJD and other polyQ diseases.
Silva, Sara Carina Duarte, Maciel, P.
openaire   +3 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

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

Cognitive Impairments in Machado-Joseph Disease [PDF]

Archives of Neurology, 2004
Cognitive function of Machado-Joseph disease (MJD) patients has not been clarified.To determine the characteristics of cognitive dysfunction in MJD patients and to assess the relationship of dysfunction to age at onset, age at examination, disease duration, education, ataxia, depression, anxiety, and CAG repeat length.Case-control study.Research ...
Yoshinari, Kawai, Akinori, Takeda, Yuji, Abe, Yukihiko, Washimi, Fumiaki, Tanaka, Gen, Sobue   +5 more
openaire   +2 more sources

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]

, 2008
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen, Bezprozvanny, I, Nelson, O, Hammer, R, Tu, H, Nukina, N, O. Nelson, N. Nukina, Chen, X, Tang, TS, T.-S. Tang, Pook, M, H. Tu, R. Hammer, I. Bezprozvanny, M. Pook   +15 more
core   +1 more source

ULK overexpression mitigates motor deficits and neuropathology in mouse models of Machado-Joseph disease. [PDF]

Mol Ther, 2022
Machado-Joseph disease (MJD) is a fatal neurodegenerative disorder clinically characterized by prominent ataxia. It is caused by an expansion of a CAG trinucleotide in ATXN3, translating into an expanded polyglutamine (polyQ) tract in the ATXN3 protein ...
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   +3 more sources