Thursday, December 1, 2022

Clinical evidence of interventions assessed in Friedreich ataxia: a systematic review

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Jain P, Badgujar L, Spoorendonk J, Buesch K.; Therapeutic Advances in Rare Disease. 2022;3. doi:10.1177/26330040221139872  Identified litera...

Friedreich’s ataxia: major trial readouts and regulatory events to watch in 2023

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www.clinicaltrialsarena.com; Analysis. November 30, 2022  The FDA could approve the first treatment for Friedreich’s ataxia, and at least th...
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...