Tuesday, March 30, 2021

Rare-disease researchers face unique obstacles: Minoryx

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29-Mar-2021 By Jenni Spinner A representative of the rare-disease specialist firm outlines the unique obstacles of orphan CNS disease resea...

Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en EspañaEpidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

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G. Ortega Suero, M.J. Abenza Abildúa, C. Serrano Munuera, I. Rouco Axpe, F.J. Arpa Gutiérrez, A.D. Adarmes Gómez, F.J. Rodríguez de Rivera, ...
Monday, March 29, 2021

Pre-clinical left ventricular myocardial remodeling in patients with Friedreich's ataxia: A cardiac MRI study

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Takazaki KAG, Quinaglia T, Venancio TD, Martinez ARM, Shah RV, Neilan TG, Jerosch-Herold M, Coelho-Filho OR, França MC Jr.; PLoS One. 2021 M...
Saturday, March 27, 2021

Quantitative assessment of Friedreich Ataxia via self-drinking activity

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Ragil Krishna, Pubudu N Pathirana, Malcolm Horne, Louise Corben, David Szmulewicz; IEEE J Biomed Health Inform. 2021 Mar 25;PP. doi: 10.1109...
Friday, March 26, 2021

NAD+ Precursor Supplementation in Friedreich's Ataxia

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ClinicalTrials.gov Identifier: NCT04817111. A Phase 2a Study of NAD+ Precursor Supplementation in Friedreich's Ataxia  Sponsor: Metro In...
Thursday, March 25, 2021

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

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Yoko Takahashi, Masaya Kubota, Rika Kosaki, Kenjiro Kosaki, Akira Ishiguro; Brain and Development, Volume 43, Issue 3, 2021, Pages 464-469, ...

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

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Prof Kathrin Reetz, MD, Imis Dogan, PhD, Prof Ralf-Dieter Hilgers, PhD, Prof Paola Giunti, MD, Michael H Parkinson, MBBS, Caterina Mariotti,...
Tuesday, March 23, 2021

The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia

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Bernice Frempong, Robert B. Wilson, Kimberly Schadt and David R. Lynch; Front. Neurosci., 02 March 2021, doi:10.3389/fnins.2021.653241  A de...
Sunday, March 21, 2021

The responsiveness of gait and balance outcomes to disease progression in Friedreich ataxia

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Sarah C Milne, Seok Hun Kim, Anna Murphy, Jane Larkindale, Jennifer Farmer, Ritchie Malapira, Mary Danoudis, Jessica Shaw, Tyagi Ramakrishna...
Saturday, March 20, 2021

In vivo survival and differentiation of Friedreich ataxia iPSC-derived sensory neurons transplanted in the adult dorsal root ganglia

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Viventi S, Frausin S, Howden SE, Lim SY, Finol-Urdaneta RK, McArthur JR, Abu-Bonsrah KD, Ng W, Ivanusic J, Thompson L, Dottori M.; Stem Cell...