Results 71 to 80 of about 5,061 (184)

Cognitive Changes in Pre‐ataxic Spinocerebellar Ataxias: A Scoping Review

open access: yesMovement Disorders Clinical Practice, Volume 12, Issue 12, Page 2071-2079, December 2025.
Abstract Background Although traditionally recognized for motor impairment, evidence suggests that cognitive deficits may emerge before ataxia onset in autosomal dominant spinocerebellar ataxias (SCA), particularly in nucleotide repeat expansion SCAs (NRE‐SCAs).
Renata Barreto Tenorio   +3 more
wiley   +1 more source

From Yeast to Therapeutics: Modeling Neurodegenerative Diseases in Saccharomyces cerevisiae

open access: yesYeast, Volume 42, Issue 12, Page 283-302, December 2025.
Yeast plasmids expressing human Aβ‐42, α‐syn, htt, and TDP‐43. Their fate includes an equilibrium between the endocytic pathway and aggregates that potentially disrupt endocytosis, vesicular transport, vacuolar autophagy, and mitochondrial activity. ABSTRACT Here, we review the use of Saccharomyces cerevisiae as a powerful model organism for studying ...
Jose Ribamar Ferreira‐Junior   +2 more
wiley   +1 more source

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

open access: yesBMC Neurology, 2011
Background Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene.
Vasconcelos João   +9 more
doaj   +1 more source

Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 [PDF]

open access: yes, 2006
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable
openaire   +2 more sources

Individual and combined effects of chemical and mechanical power on postoperative pulmonary complications: a secondary analysis of the REPEAT study

open access: yesAnaesthesia, Volume 80, Issue 12, Page 1510-1518, December 2025.
Summary Introduction Intra‐operative supplemental oxygen and mechanical ventilation expose the lungs to potentially injurious energy. This can be quantified as ‘chemical power’ and ‘mechanical power’, respectively. In this study, we sought to determine if intra‐operative chemical and mechanical power, individually and/or in combination, are associated ...
Lukas M. Müller‐Wirtz   +517 more
wiley   +1 more source

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

open access: yesFrontiers in Neurology, 2017
ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen ...
Adriano M. de Assis   +39 more
doaj   +1 more source

Vergence and Strabismus in Neurodegenerative Disorders

open access: yesFrontiers in Neurology, 2018
Maintaining proper eye alignment is necessary to generate a cohesive visual image. This involves the coordination of complex neural networks, which can become impaired by various neurodegenerative diseases.
Sarah L. Kang   +4 more
doaj   +1 more source

Identification of the 5-HT1A serotonin receptor as a novel therapeutic target in a C. elegans model of Machado-Joseph disease

open access: gold, 2021
Joana Pereira‐Sousa   +9 more
openalex   +1 more source

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

open access: gold, 2021
Mafalda Raposo   +18 more
openalex   +1 more source

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