Zobrazeno 1 - 10
of 209
pro vyhledávání: '"Christopher M. Gomez"'
Publikováno v:
Laryngoscope Investigative Otolaryngology, Vol 8, Iss 3, Pp 730-738 (2023)
Abstract Objectives Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a common cause of late‐onset ataxia that often presents with chronic cough. This study is the first to characterize the CANVAS cough both objectivel
Externí odkaz:
https://doaj.org/article/33b07a2051ba40b18ac77a00bb73c299
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease with slowly progressive bilateral ptosis and symmetric ophthalmoplegia due to a genetic mutation that results in defective oxidative phosphorylation. C
Externí odkaz:
https://doaj.org/article/0a884e6502d64c58b94e937e28bebdb5
Autor:
Silas E. Busch, Dana H. Simmons, Eric Gama, Xiaofei Du, Francesco Longo, Christopher M. Gomez, Eric Klann, Christian Hansel
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Cyfip1, the gene encoding cytoplasmic FMR1 interacting protein 1, has been of interest as an autism candidate gene for years. A potential role in autism spectrum disorder (ASD) is suggested by its location on human chromosome 15q11-13, an instable re
Externí odkaz:
https://doaj.org/article/32b51ab0793445dd914ae8ecc0047da4
Autor:
Layne N. Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B. Delatycki, Christopher M. Gomez, Katherine Mathews, Sarah Murray, Susan Perlman, Bernard Ravina, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Alessandra Bolotta, Alain Domissy, Christine Jespersen, Baohu Ji, Elisabetta Soragni, Joel M. Gottesfeld, David R. Lynch
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Introduction: Friedreich ataxia (FRDA) is a recessive neurodegenerative disease characterized by progressive ataxia, dyscoordination, and loss of vision. The variable length of the pathogenic GAA triplet repeat expansion in the FXN gene in part expla
Externí odkaz:
https://doaj.org/article/fc3b8365f48643339b44ac26a1d1ebf4
Autor:
Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)
Abstract Objective The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich’s ataxia (FRDA) and document the factors leading to the requirement for corrective surgery. Methods D
Externí odkaz:
https://doaj.org/article/a2cb84dbe2df4c25be195148b462d7da
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9549 (2022)
The HER2/neu signaling pathway is one of the most frequently mutated in human cancer. Although therapeutics targeting this pathway have good efficacy, cancer cells frequently develop resistance. The HER2 gene encodes the full-length HER2 protein, as
Externí odkaz:
https://doaj.org/article/ba29ab2fb76f46398b7c83b58b5a4dde
Publikováno v:
Biology Open, Vol 5, Iss 12, Pp 1770-1775 (2016)
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that results from abnormal expansion of a polyglutamine (polyQ) repeat. SCA6 is caused by CAG triplet repeat expansion in the gene CACNA1A, resulting in a polyQ tract of 19-33 in pat
Externí odkaz:
https://doaj.org/article/20050a3b7c994ab7993069cf9029ba84
Autor:
Raymond Y. Lo, Karla P. Figueroa, Stefan M. Pulst, Chi-Ying Lin, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S S. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 5 (2015)
Background: The contributions of vascular risk factors to spinocerebellar ataxia (SCA) are not known.Methods: We studied 319 participants with SCA 1, 2, 3, and 6 and repeatedly measured clinical severity using the Scale for Assessment and Rating of A
Externí odkaz:
https://doaj.org/article/14b395d8005b41a98fd41890a80fb7eb
Autor:
Bhupinder P.S. Vohra, Jason S. Groshong, Roberto Zayas, Robert L. Wollmann, Christopher M. Gomez
Publikováno v:
Neurobiology of Disease, Vol 23, Iss 2, Pp 462-470 (2006)
In the slow-channel syndrome (SCS) mutant acetylcholine receptors elicit calcium overload and myonuclear degeneration at the neuromuscular junction (NMJ), without muscle fiber death. Activated caspases are present at SCS motor endplates. We hypothesi
Externí odkaz:
https://doaj.org/article/15d370629a8b4762bd00c087599455cd
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Autor:
Barbara A Perez, Hannah K Shorrock, Monica Banez‐Coronel, Tao Zu, Lisa EL Romano, Lauren A Laboissonniere, Tammy Reid, Yoshio Ikeda, Kaalak Reddy, Christopher M Gomez, Thomas Bird, Tetsuo Ashizawa, Lawrence J Schut, Alfredo Brusco, J Andrew Berglund, Lis F Hasholt, Jorgen E Nielsen, SH Subramony, Laura PW Ranum
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 11, Pp 1-15 (2021)
Abstract Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance
Externí odkaz:
https://doaj.org/article/33aca9ac8dc84150a7d6116bee01440f