Results 181 to 190 of about 83,390 (218)

Spinocerebellar ataxia type 10

2012
Clinical characteristics Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common.
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Recessive cerebellar and afferent ataxias — clinical challenges and future directions

Nature Reviews Neurology, 2022
Marie Beaudin, Mario Manto, Jeremy D Schmahmann   +2 more
exaly  

Spinocerebellar ataxia type 2

2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the ponto- medullar systems, pyramidal tracts, basal ...
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Other spinocerebellar ataxias

2012
Leslie J, Cloud, George, Wilmot
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Spinocerebellar ataxia type 7

2012
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked anticipation. SCA7 represents one of the polyglutamine expansion diseases with increase of CAG repeats. The gene maps to chromosome 3p12-p21.1. Normal values of CAG repeats range from 4 to 18.
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Eye Movement Abnormalities Are Ubiquitous in the Spinocerebellar Ataxias

Cerebellum, 2019
C. Stephen, J. Schmahmann
semanticscholar   +1 more source

Molecular mechanisms underlying nucleotide repeat expansion disorders

Nature Reviews Molecular Cell Biology, 2021
Chase P Kelley, Eric T Wang, Peter K Todd   +2 more
exaly  

Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study

Journal of Neurology, 2018
C. Wilke, Friedemann Bender, Stefanie N. Hayer, K. Brockmann, L. Schöls, J. Kuhle, M. Synofzik   +6 more
semanticscholar   +1 more source

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Journal of Neurology, 2018
H. Jacobi, S. T. Montcel, P. Bauer, P. Giunti, A. Cook, R. Labrum, Michael H. Parkinson, A. Durr, A. Brice, P. Charles, C. Marelli, C. Mariotti, L. Nanetti, L. Sarro, M. Rakowicz, A. Sułek, A. Sobańska, T. Schmitz-Hübsch, L. Schöls, H. Hengel, L. Balikó, B. Melegh, A. Filla, A. Antenora, J. Infante, J. Berciano, B. Warrenburg, D. Timmann, S. Szymanski, S. Boesch, W. Nachbauer, Jun-Suk Kang, M. Pandolfo, J. Schulz, A. T. Melac, Alhassane Diallo, T. Klockgether   +36 more
semanticscholar   +1 more source

Spinocerebellar Ataxias

2009
Alexander K. C. Leung, Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Bennett Myers, David N. Herrmann, Vikram K. Mahajan, Nand Lal Sharma, Surender Kashyap, C. Ronald Scott, Natalie Gall, Katrin Welt, Karin Scharffetter-Kochanek, Matthew Harries, Tobias Fischer, Ralf Paus, Cornelius F. Boerkoel, Leah I. Elizondo, Thomas Lücke, Markus M. Nöthen, Marcella Rietschel, Undine E. Lang, Sophie Nicole, Bertrand Fontaine, Alexander K. C. Leung, William Lane M. Robson, Thomas Krieg, Julia Weihrauch, Sergio A. Jimenez, Hugo Ten Cate, Itshak Zusman, Pavel Gurevich, Herzl Ben-Hur, Jutta Keller, Jiri Litzman, Yaofeng Zhao, Lennart Hammarstöm, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Marie-Estelle Dupont, Olivier Guilbaud, Hermann-Josef Gröne, Zoran V. Popovic, Mario Mancini, Batya B. Davidovici, Batsheva Marcos, Edith Orion, Ronni Wolf, Jean-Louis Vincent, Giora Z. Feuerstein, James C. Keith, Robert R. Ruffolo, Cord Sunderkötter, M. Murat Naki, Cevahir Tekcan, M. Murat Naki, Cevahir Tekcan, Amy S. Rawls, Daniel C. Link, Carolina Reitzenstein, Jürgen Kopitz, Michael Cantz, Michael Cantz, Johannes Uhl, Jürgen Kopitz, John-John B. Schnog, Victor E. A. Gerdes, Bärbel Schütte, Samuel J. Arbes, Darryl C. Zeldin, Alessandra Baumer, Hans-Peter Zenner, Brandy J. Harvey, Jyh-Yeuan Lee, Ina L. Urbatsch, Jan Rémi, Soheyl Noachtar, Alexander K. C. Leung, Sarah H. Elsea, Santhosh Girirajan, Chee-Keong Toh, Cord Sunderkötter, Rebecca Schüle, Ludger Schöls, Niels Borregaard, Jack B. Cowland, John-John B. Schnog, Victor E. A. Gerdes, Alexander K. C. Leung, Laura E. Mitchell, Analee J. Etheredge, Denise S. Hill, Richard H. Finnell, Meinhard Schiller, Dorothee Nashan, Cord Sunderkötter, Stefan Reuter, David Geneviève, Valérie Cormier-Daire, Jozef Gécz, Ravi Savarirayan, Yves Le Loir, Michel Gautier, Cord Sunderkötter, Jean-Michel Rozet, Josseline Kaplan, Katarzyna Lukasiuk, Asla Pitkänen, Stephan Haas, Sören Siegmund, Manfred V. Singer, Henryk Dancygier, Mark Oette, Vicente Andrés, Rainer Wessely, Alexander K. C. Leung, Deborah P. Merke, Alexander K. C. Leung, Kam-Lun Ellis Hon, Jutta Engel, Hans-Michael Meinck, Amei Ludwig, Hartmut Hengel, John-John B. Schnog, Victor E. A. Gerdes, Giora Z. Feuerstein, Xinkang Wang, Ivor L. Gerber, Eric Sibley, Akihiro Takatsu, Brigitta Bondy, Daniel Markovich, Ting-Ting Huang, Charles J. Epstein, Hilmar Prange   +150 more
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