Results 101 to 110 of about 27,164 (223)
, 2012 Includes abstract.Includes bibliographical references.Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited neurodegenerative disease, resulting from a CAG trinucleotide repeat expansion in the ataxin-7 gene.
Watson, Lauren
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New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease)
, 2008 Purpose of review This review summarizes recent neuropathological findings in spinocerebellar ataxia type 3 and discusses their relevance for clinical neurology.
Rueb, Udo +2 more
core +1 more source
Impaired Efficiency and Resilience of Structural Network in Spinocerebellar Ataxia Type 3
Frontiers in Neuroscience, 2018 Background: Recent studies have shown that the patients with spinocerebellar ataxia type 3 (SCA3) may not only have disease involvement in the cerebellum and brainstem but also in the cerebral regions.
Yu-Te Wu +11 more
doaj +1 more source
Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel +13 more
wiley +1 more source
Occupational therapy in spinocerebellar ataxia type 3: an open-label trial
Brazilian Journal of Medical and Biological Research, 2010 Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life.
R.C.R. Silva +5 more
doaj
Brain Pathology, Volume 36, Issue 4, July 2026.Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper +17 more
wiley +1 more source
, 2011 Includes bibliographical references (leaves 106-116).Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have
Berkowitz, Danielle Claire
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An exploration of the lived experience of progressive cerebellar Ataxia: An interpretative phenomenological analysis [PDF]
, 2012 This thesis was submitted for the degree of Doctor of Philosophy and was awarded by Brunel UniversityBackground and Purpose: Progressive cerebellar ataxia is a rare neurological condition characterised by uncoordinated movement, and impaired speech ...
Cassidy, Elizabeth Emma
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European Journal of Neurology, Volume 33, Issue 7, July 2026.ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino +6 more
wiley +1 more source
Annals of the New York Academy of Sciences, Volume 1561, Issue 1, July 2026.Ataxin‐1 has been recently implicated in B cell regulation in the context of multiple sclerosis pathology. In this study, we used a multiomics pipeline to profile the B cell transcriptome, epigenome, and proteome in response to encephalitogenic challenges.
Jonathan J. Carver +6 more
wiley +1 more source