Results 11 to 20 of about 83,390 (218)

Spinocerebellar ataxias Ataxias espinocerebelares [PDF]

Arquivos de Neuro-Psiquiatria, 2009
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders,
Hélio A.G. Teive
doaj   +5 more sources

Neuroradiological Findings in the Spinocerebellar Ataxias

Tremor and Other Hyperkinetic Movements, 2019
Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia.
Alex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, Arnolfo de Carvalho Neto, Salmo Raskin, Carlos Henrique F. Camargo, Hélio Afonso G. Teive   +6 more
doaj   +2 more sources

Cognition in trinucleotide repeat spinocerebellar ataxias: A review [PDF]

Annals of Indian Academy of Neurology, 2022
Spinocerebellar ataxias (SCAs) comprise a group of complex and heterogeneous hereditary neurodegenerative disorders characterized by cerebellar ataxia, with ophthalmoplegia, pyramidal and extrapyramidal features, peripheral neuropathy, motor neuron ...
Ayush Agarwal, Pankaj, Mohd Faruq, Ajay Garg, Achal K Srivastava   +4 more
doaj   +2 more sources

Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances [PDF]

Frontiers in Neuroscience
Spinocerebellar ataxia is a phenotypically and genetically heterogeneous group of autosomal dominant-inherited degenerative disorders. The gene mutation spectrum includes dynamic expansions, point mutations, duplications, insertions, and deletions of ...
Zi-Ting Cui, Zong-Tao Mao, Rong Yang, Jia-Jia Li, Shan-Shan Jia, Jian-Li Zhao, Fang-Tian Zhong, Peng Yu, Ming Dong   +8 more
doaj   +2 more sources

Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias [PDF]

Cell Death and Disease
Polyglutamine spinocerebellar ataxias (PolyQ SCAs) comprise a group of six inherited rare neurodegenerative diseases. They are caused by abnormal mutation of a CAG tract in six otherwise unrelated genes, leading to a complex cascade of molecular events ...
Clévio Nóbrega, Adriana Marcelo, Ana Teresa Rajado, André Conceição, Bernardo Estevam, Carlos A. Matos, David VC Brito, Inês T. Afonso, José Miguel Codêsso, Rebekah Koppenol, Rafael G. Costa, Ricardo Afonso-Reis, Rodrigo Paulino, Tiago Moreira-Gomes   +13 more
doaj   +2 more sources

Roles of Post-translational Modifications in Spinocerebellar Ataxias

Frontiers in Cellular Neuroscience, 2018
Post-translational modifications (PTMs), including phosphorylation, acetylation, ubiquitination, SUMOylation, etc., of proteins can modulate protein properties such as intracellular distribution, activity, stability, aggregation, and interactions ...
Linlin Wan, Keqin Xu, Zhao Chen, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang   +14 more
doaj   +2 more sources

Spinocerebellar Ataxias

Neurobiology of Disease, 2000
Huda Y. Zoghbi
doaj   +3 more sources

The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. [PDF]

Cerebellum
Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann JD.   +24 more
europepmc   +2 more sources

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

Tremor and Other Hyperkinetic Movements, 2017
Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ...
Shi-Rui Gan, Jie Wang, Karla P. Figueroa, Stefan M. Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher ‎ M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikramq G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, S. H. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo   +19 more
doaj   +2 more sources

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

Nature Reviews Neuroscience, 2017
Henry L Paulson, Vikram G Shakkottai, Harry T Orr   +2 more
exaly   +2 more sources