Results 31 to 40 of about 5,061 (184)
Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report
Journal of Medical Case Reports, 2011 Introduction Chronic pain is a common problem for patients with Machado-Joseph disease. Most of the chronic pain in Machado-Joseph disease has been reported to be of musculoskeletal origin, but now there seems to be different chronic pain in patients ...
Lee Yi-Chung +3 more
doaj +1 more source
Pediatric Neurology Briefs, 1996 The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie ...
J Gordon Millichap
doaj +1 more source
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
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
Autonomic Dysfunction in Machado-Joseph Disease [PDF]
Archives of Neurology, 2005 Machado-Joseph disease is an autosomal dominant spinocerebellar ataxia with expanded trinucleotide repeats. Although autonomic nervous system degeneration was documented in postmortem reports, the autonomic dysfunction in patients with Machado-Joseph disease, either in clinical analysis or electrophysiological investigations, has not yet been studied ...
Tu-Hsueh, Yeh +6 more
openaire +2 more sources
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
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
Angewandte Chemie, EarlyView.A large variety of chemistry‐based ubiquitin probes have been developed. ABSTRACT Ubiquitin (Ub) and ubiquitin‐like proteins (Ubls) orchestrate diverse cellular processes through reversible post‐translational modification of target proteins. Their conjugation is governed by a cascade of E1 activating, E2 conjugating, and E3 ligating enzymes, while ...
Saibal Chanda, Wenshe Ray Liu
wiley +2 more sources