Tuesday, November 29, 2022

METTL17 is an Fe-S cluster checkpoint for mitochondrial translation

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Ast T, Itoh Y, Sadre S, McCoy JG, Namkoong G, Chicherin I, Joshi PR, Kamenski P, Suess DLM, Amunts A, Mootha VK.; bioRxiv; 2022. DOI: 10.110...
Monday, November 28, 2022

Personal factors understood through the Ecological-Enactive Model of Disability and implications for rehabilitation research

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Schwab SM, Spencer C, Carver NS, Andrade V, Dugan S, Greve K, Silva PL.; Front Rehabil Sci. 2022 Aug 12;3:954061. doi:10.3389/fresc.2022.95...

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers

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Thomas-Black, G., Altmann, D.R., Crook, H., Solanky, N., Carrasco, F.P., Battiston, M., Grussu, F., Yiannakas, M.C., Kanber, B., Jolly, J.K....
Friday, November 25, 2022

Design and Implementation of a Personalizable Alternative Mouse and Keyboard Interface for Individuals with Limited Upper Limb Mobility

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Andreas, D.; Six, H.; Bliek, A.; Beckerle, P.; Multimodal Technol. Interact. 2022, 6, 104. doi:10.3390/mti6120104   People with neuromuscula...
Tuesday, November 22, 2022

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol

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Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz ...
Monday, November 21, 2022

Determinant of the Cerebellar cognitive affective syndrome in Friedreich Ataxia

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destrebecq, comet, deveylder, alaerts, naeije.; Research Square; 2022. DOI: 10.21203/rs.3.rs-2279266/v1.  CCAS is highly prevalent in adult ...

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

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Rummey C, Harding IH, Delatycki MB, Tai G, Rezende T, Corben LA.; Ann Clin Transl Neurol. 2022 Nov 16. doi: 10.1002/acn3.51686. Epub ahead o...
Sunday, November 20, 2022

Cerebellar impulsivity–compulsivity assessment scale

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Lin, C.-Y.R., Amokrane, N., Chen, S., Chen, T.X., Lai, R.-Y., Trinh, P., Minyetty, M.J., Emmerich, H., Pan, M.-K., Claassen, D.O. and Kuo, S...

Safety and pharmacokinetics of a highly bioavailable resveratrol preparation (JOTROL TM)

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Kemper C, Benham D, Brothers S, Wahlestedt C, Volmar CH, Bennett D, Hayward M.; AAPS Open. 2022;8(1):11. doi: 10.1186/s41120-022-00058-1. Ep...
Friday, November 18, 2022

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

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Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz & Verónica Alonso-Ferreira; Orphanet J Rare Dis 1...