Wednesday, November 30, 2022

Acceso a medicamentos huérfanos para el tratamiento de la atrofia muscular espinal en España

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B. García-Parra, J.M. Guiu, P. Modamio, A. Martínez-Yélamos, E.L. Mariño-Hernández, M. Povedano[REV NEUROL 2022;75:261-267]PMID: 36285446DOI...

Repositioning Drugs for Rare Diseases Based on Biological Features and Computational Approaches

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Otero-Carrasco, B.; Prieto Santamaría, L.; Ugarte Carro, E.; Caraça-Valente Hernández, J.P.; Rodríguez-González, Healthcare 2022, 10, 1784. ...

Patient-Reported Impact of Symptoms in Friedreich Ataxia

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Jamison Seabury, Danae Alexandrou, Nuran Dilek, Brittany Cohen, John Heatwole, Jane Larkindale, David R Lynch, Courtney Park, Spencer Rosero...

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension

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Lynch, D.R., Chin, M.P., Boesch, S., Delatycki, M.B., Giunti, P., Goldsberry, A., Hoyle, J.C., Mariotti, C., Mathews, K.D., Nachbauer, W., O...
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 ...