Results 41 to 50 of about 161,555 (138)

HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich’s Ataxia

Frontiers in Genetics, 2020
Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disorder caused by a homozygous GAA repeat expansion mutation in intron 1 of the frataxin gene (FXN), which instigates reduced transcription.
Mursal Sherzai, Adamo Valle, Adamo Valle, Nicholas Perry, Ester Kalef-Ezra, Sahar Al-Mahdawi, Mark Pook, Sara Anjomani Virmouni   +7 more
doaj   +1 more source

Results of a randomized double‐blind study evaluating luvadaxistat in adults with Friedreich ataxia

Annals of Clinical and Translational Neurology, 2021
Objectives Friedreich ataxia (FRDA) is a rare disorder with progressive neurodegeneration and cardiomyopathy. Luvadaxistat (also known as TAK‐831; NBI‐1065844), an inhibitor of the enzyme d‐amino acid oxidase, has demonstrated beneficial effects in ...
Hao Wang, Jonathan Norton, Lin Xu, Nicholas DeMartinis, Rohini Sen, Ankit Shah, Jennifer Farmer, David Lynch   +7 more
doaj   +1 more source

Clinical case of ataxia of toxic origin

Бюллетень сибирской медицины, 2021
Clinical case of ataxia development associated with accidental phenobarbital overdose is presented. Clinical manifestations and differential diagnostics are described; the results of laboratory examinations for this pathology are presented. In conclusion,
A. A. Raskurazhev, P. I. Kuznetsova, M. M. Tanashyan   +2 more
doaj   +1 more source

Using interpretative phenomenological analysis to inform physiotherapy practice: An introduction with reference to the lived experience of cerebellar ataxia [PDF]

, 2010
The attached file is a pre-published version of the full and final paper which can be found at the link below.This article has been made available through the Brunel Open Access Publishing Fund.Qualitative research methods that focus on the lived ...
Chau L, Clare L, Curry LA, Davis KK, Dean E, Dean SG, Dean SG, Eatough V, Edward KL, Elizabeth Cassidy, Finlay L, Finlay L, Frances Reynolds, Glasscoe C, Green J, Grytten N, Grytten N, Hill K, Holly J, Holly J, Hydén L-C, Jensen GM, Johnson JL, Kearney MH, Keusch GT, Lorraine De Souza, Marcum JA, Mattingly C, Murray CD, National Institute for Health Research, Pullen SA, Radley A, Rauscher L, Reid J, Reid K, Rennie DL, Reynolds F, Reynolds F, Riessman CK, Royal E, Sandra Naylor, Shepard KF, Sim J, Smith JA, Smith JA, Smith JA, Smith JA, Smith JA, Stephens M, Thompson AR, Toombs SK, Toombs SK, Williamson C, Yardley L   +53 more
core   +1 more source

Test–retest reliability of the Friedreich’s ataxia rating scale

Annals of Clinical and Translational Neurology, 2020
The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam‐based neurological rating scale commonly used as a outcome measure in clinical trials.
Christian Rummey, Theresa A. Zesiewicz, Santiago Perez‐Lloret, Jennifer M. Farmer, Massimo Pandolfo, David R. Lynch   +5 more
doaj   +1 more source

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Al-Mahdawi, Al-Mahdawi, Al-Mahdawi, Albano, Bidichandani, Brandon Brown, Brian D. Scott, Bridwell-Rabb, Campuzano, Catterall, Chantrel-Groussard, Chorley, Chutake, Condò, Cossée, Cox, De Biase, Deutsch, Drechsel, Dürr, Fahey, Filla, Florestano, Frank, Friedman, Gino A. Cortopassi, Greene, Hashemy, Heike Wulff, Huang, Kalinin, Kensler, Kim, Kim, Koeppen, Koeppen, Kosower, Kosower, Kruger, Lai, Larkin, Liu, Lopert, Lu, Lu, Marissa Z. McMackin, Mark A. Pook, Miranda, Mittal Jasoliya, Montermini, Osburn, Paredes-Gonzalez, Paupe, Riah, Sandi, Sangster, Saveliev, Schmitz-Hübsch, Selak, Shan, Shan, Shan, Shelmire, Sinha, Streck, Subramaniam, Sunil Sahdeo, Susan L. Perlman, Tan, Tan, Tella, Verdon, Wang, Wang, Weaver, Willis, Yang, Yu, Zhang   +78 more
core   +1 more source

Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation

Tremor and Other Hyperkinetic Movements, 2016
No abstract necessary for Letters.
José L. Pedroso, Thiago C. Vale, Orlando G. Barsottini   +2 more
doaj   +1 more source

Calcium Deregulation: Novel Insights to Understand Friedreich’s Ataxia Pathophysiology

Frontiers in Cellular Neuroscience, 2018
Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder, characterized by degeneration of dorsal root ganglia, cerebellum and cardiomyopathy. Heart failure is one of the most common causes of death for FRDA patients.
Rosella Abeti, Alexander F. Brown, Marta Maiolino, Sandip Patel, Paola Giunti   +4 more
doaj   +1 more source

Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA

Frontiers in Neurology, 2020
Spinocerebellar ataxias are progressive neurodegenerative disorders primarily affecting the cerebellum. Although the first disease-causing gene was identified nearly 30 years ago, there is no known cure to date, and only a few options exist for ...
Chih-Chun Lin, Chih-Chun Lin, Tetsuo Ashizawa, Sheng-Han Kuo, Sheng-Han Kuo   +4 more
doaj   +1 more source

Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series

Türk Nöroloji Dergisi, 2021
Glucose transporter type 1 deficiency syndrome is a neurometabolic encephalopathy characterized by movement disorders, intractable seizures, and acquired microcephaly.
Miraç Yıldırım, Ömür Babayiğit, Fatma Ilgaz, Dilek Yalnızoğlu, Meral Topçu   +4 more
doaj   +1 more source