Thursday, February 15, 2018

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology

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Theresa A. Zesiewicz, George Wilmot, Sheng-Han Kuo, Susan Perlman, Patricia E. Greenstein, Sarah H. Ying, Tetsuo Ashizawa, S.H. Subramony, J...

Interactions of Frataxin with ISCU and Ferredoxin on the Cysteine Desulfurase Complex Leading to Fe-S Cluster Assembly

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Kai Cai. Volume 114, Issue 3, Supplement 1, 2 February 2018, Pages 571a, doi:10.1016/j.bpj.2017.11.3123 Frataxin (FXN) is involved in mito...

RNA–DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication

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Alexander J Neil Miranda U Liang Alexandra N Khristich Kartik A Shah Sergei M Mirkin; Nucleic Acids Research, , gky099, doi:10.1093/nar/gky0...
Tuesday, February 13, 2018

Restless legs syndrome and periodic leg movements in patients with movement disorders: Specific considerations

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Högl, B. and Stefani, A. (2017), Mov. Disord., 32: 669–681. doi: 10.1002/mds.26929 The diagnostic criteria for restless legs syndrome (RLS...
Wednesday, February 7, 2018

New Approaches to Exciting Exergame-Experiences for People with Motor Function Impairments

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Eckert, M.; Gómez-Martinho, I.; Meneses, J.; Martínez, J.-F.; Sensors 2017, 17, 354. doi:10.3390/s17020354              OPEN ACCESS The w...

ISCU(M108I) and ISCU(D39V) differ from wild type ISCU in their failure to form cysteine desulfurase complexes containing both frataxin and ferredoxin

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Kai Cai, Ronnie O. Frederick, Marco Tonelli, and John L. Markley; Biochemistry, Just Accepted Manuscript DOI: 10.1021/acs.biochem.7b01234 ...
Tuesday, February 6, 2018

Idebenone: Novel Strategies to Improve Its Systemic and Local Efficacy

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Lucia Montenegro, Rita Turnaturi, Carmela Parenti and Lorella Pasquinucci; Nanomaterials 2018, 8(2), 87; doi:10.3390/nano8020087 The key r...
Monday, February 5, 2018

Jotrol IND Application Submission for MPS and Friedrich's Ataxia Imminent

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Mathew Shanley, Rare Disease Report. FEBRUARY 05, 2018 Jupiter Orphan Therapeutics, Inc. (JOT) announced this morning that it intends to s...

To study the genotype - phenotype correlation of Friedreich’s Ataxia (FRDA) patients in Indian population

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I. Ahmad, A. Kumar Srivastava, M. Faruq, V. Padma Srivastava M., Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018...

Paediatric genomics: diagnosing rare disease in children

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Caroline F. Wright, David R. FitzPatrick & Helen V. Firth, Nature Reviews Genetics, Published online:05 February 2018, doi:10.1038/nrg.2...