Results 111 to 120 of about 71,064 (224)

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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Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study

Cell Transplantation, 2017
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases.
Yun-An Tsai, Ren-Shyan Liu, Jiing-Feng Lirng, Bang-Hung Yang, Chin-Hao Chang, Yi-Chen Wang, Yu-Shan Wu, Jennifer Hui-Chun Ho, Oscar K. Lee, Bing-Wen Soong   +9 more
doaj   +1 more source

Clinical Characteristics of Patients with Spinocerebellar Ataxia 7

, 2009
Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominantly inherited neurodegenerative disorder. It is due to abnormal CAG trinucleotide repeat expansion. SCA7 is the only inherited ataxia invariably associated with a cone-rod dystrophy.
Randee Miller; Gregory Van Stavern
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Progression of microstructural damage in spinocerebellar Ataxia Type 2: A longitudinal DTI study [PDF]

, 2015
The ability of DTI to track the progression of microstructural damage in patients with inherited ataxias has not been explored so far.
Nicolai, E., Salvatore, E., Soricelli, A, Giannelli, M., Tessa, C, Toschi, N., Aiello, M., DICIOTTI, STEFANO, Diciotti, S, Salvatore, E, TOSCHI, NICOLA, Della Nave, R, Nave, R. Della, Ginestroni, A, Giannelli, M, Bianchi, A, Aiello, M, Nicolai, E, Ginestroni, A., Diciotti, S., SORICELLI, ANDREA, Mascalchi, M., Tessa, C., Bianchi, A., Mascalchi, M, Toschi, N, Soricelli, A., Nave, RD   +27 more
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Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

Arquivos de Neuro-Psiquiatria
Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia, Francisco Manoel Branco Germiniani, Paula Marques, Jorge Sequeiros, Hélio Afonso Ghizoni Teive   +4 more
doaj   +1 more source

NOP56 is essential for mammalian generation and maintenance of multiple central nervous systems, associated with SCA36 pathology

Acta Neuropathologica Communications
NOP56, a core nucleolar component involved in small nucleolar ribonucleoprotein assembly, has been genetically implicated in spinocerebellar ataxia type 36. However, the role of NOP56 in mammalian neurodevelopment and disease remains poorly defined.
Kosuke Matsuzono, Yasumitsu Nagao, Chihiro Sarai, Yuki Takayanagi, Eiji Sakashita, Kazumasa Sekiguchi, Hiroyuki Honda, Akemi Makino, Kazuhiro Saito, Hitoshi Endo, Tatsushi Onaka, Shigeru Fujimoto   +11 more
doaj   +1 more source

Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient

Case Reports in Psychiatry, 2019
Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. Whaley, S. Fujioka, Z. K. Wszolek, 2011).
Eric Black
doaj   +1 more source

SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia.

, 2008
To evaluate the usefulness of functional measures in patients with spinocerebellar ataxia (SCA).Clinical TrialJournal ArticleMulticenter StudyResearch Support, Non-U.S.
Klockgether, T., Baliko, L, Filla, A, Rola, R., Depondt, C., Sacca, F., Kang, J.S., Melegh, B., Klockgether, T, Schmitz-Hübsch, T, Kremer, B, van de Warrenburg, Bart P., van de Warrenburg, B P, Schmitz-Hübsch, Tanja, Zdzienicka, E., Kang, J.-S., Schmitz-Hubsch, T., Rakowicz, M, Giunti, P., Mariotti, Christian, Kremer, H.P.H., Stephenson, D.A., Warrenburg, B.P.C. van de, Fancellu, Roberto, Infante, J, Balikó, László, Stephenson, D A, Saccà, F, Kang, J-S, Baliko, L., Giunti, Paola, Rola, R, Szymanski, Sandra, Dohlinger, S., Globas, C, Fancellu, R., Giunti, P, Mariotti, C., Timmann, D, Schols, L., Depondt, Chantal, Döhlinger, S, Melegh, Bela, Stephenson, D. A., Szymanski, S., Infante, J., Timmann, D., Globas, Christoph, Schöls, Lüdger, Infante, Jon, Rakowicz, M., Kremer, B., Szymanski, S, Filla, A., Globas, C., Zdzienicka, E   +55 more
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The frequency of spinocerebellar ataxia type 23 in a UK population

, 2013
Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities.
Koutsis, Georgios, Schottlaender, Lucia, Morrison, Patrick J., Fawcett, Katherine, Hamed, Sherifa, Giunti, Paola, Liu, Yo-Tsen, Mehrabian, Mohadeseh, Elahi, Elahe, Revesz, Tamas, Wood, Nicholas, Wardle, Mark, Houlden, Henry, Morris, Huw Rees, Herscheson, Joshua   +14 more
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Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families [PDF]

, 2020
Two families with spinocerebellar ataxia type 7 are presented. Although there are affected cousins, it is not the sibling parents that transmitted the mutation.
Dominic Fee, Fariha Zaheer
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