Results 31 to 40 of about 4,410 (162)
Revista da Sociedade Brasileira de Fonoaudiologia, 2007 O objetivo deste estudo foi descrever os principais aspectos fonoaudiológicos relacionados à fala na doença de Machado-Joseph, em um indivíduo do sexo masculino, selecionado entre outros pacientes portadores desta doença com limitações significativas de ...
Angela Ruviaro Busanello +2 more
doaj +1 more source
Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease
Arquivos de Gastroenterologia, 2010 CONTEXT: In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy.
Sabrina Mello Alves Corrêa +4 more
doaj +1 more source
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 +5 more
openaire +2 more sources
Machado-Joseph disease versus hereditary spastic paraplegia: case report [PDF]
Arquivos de Neuro-Psiquiatria, 2001 Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients.
Hélio A. Ghizoni Teive +4 more
doaj +1 more source
Stem Cell Research, 2020 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is autosomal-dominant neurodegenerative disease caused by an expansion of polyglutamine-encoding CAG repeats in the ATXN3 gene.
Agata Ciolak +3 more
doaj +1 more source
Stem Cell Research, 2022 Spinal cerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the result of abnormal repeat amplification of CAG of the ATXN3 gene.
Yang Yinghong +6 more
doaj +1 more source
Neuropeptide Y (NPY) as a therapeutic target for neurodegenerative diseases
Neurobiology of Disease, 2016 Neuropeptide Y (NPY) and NPY receptors are widely expressed in the mammalian central nervous system. Studies in both humans and rodent models revealed that brain NPY levels are altered in some neurodegenerative disorders, such as Alzheimer's disease ...
Joana Duarte-Neves +2 more
doaj +1 more source
Stem Cell Research, 2020 Using a non-integrative reprogramming method, a human iPSC Line, ZZUNEUi002-A, was generated from a 22-year-old male patient with spinocerebellar ataxia type 3 /Machado-Joseph disease (SCA3/MJD).
Liting Wei +6 more
doaj +1 more source
SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity. [PDF]
PLoS ONE, 2013 Post-translational modification by SUMO was proposed to modulate the pathogenesis of several neurodegenerative diseases. Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease caused by polyQ ...
Ya-Fang Zhou +11 more
doaj +1 more source
Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells
Movement Disorders, EarlyView.Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia +4 more
wiley +1 more source