Wednesday, May 10, 2023

Design Therapeutics Provides Pipeline Updates and Reports First Quarter 2023 Financial Results

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CARLSBAD, Calif., May 09, 2023 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc.  Initial Data from Ongoing Phase 1 MAD Trial of DT-216 for FA E...
Tuesday, May 9, 2023

Omaveloxolone: First Approval

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Lee A. Omaveloxolone: First Approval. Drugs. 2023 May 8. doi: 10.1007/s40265-023-01874-9. Epub ahead of print. PMID: 37155124.  Omaveloxolon...
Monday, May 8, 2023

Omaveloxolone (SkyclarysTM) for patients with Friedreich’s ataxia

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Sharadha Dayalan Naidu, Albena T. Dinkova-Kostova, Omaveloxolone (SkyclarysTM) for patients with Friedreich’s ataxia, Trends in Pharmacologi...
Saturday, May 6, 2023

A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance

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Hageman, I.C., van Rooij, I.A., de Blaauw, I. et al. A systematic overview of rare disease patient registries: challenges in design, quality...
Wednesday, May 3, 2023

Ketolysis is required for the proper development and function of the somatosensory nervous system

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Enders J, Jack J, Thomas S, Lynch P, Lasnier S, Cao X, Swanson MT, Ryals JM, Thyfault JP, Puchalska P, Crawford PA, Wright DE. Ketolysis is ...
Monday, May 1, 2023

Natural History Studies Drive Data Sharing, Drug Approval

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Heidt, A. (2023, May 1). Natural history studies drive data sharing, drug approval. Retrieved May 1, 2023, from BioSpace website: https://ww...

Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España

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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, ...
Sunday, April 30, 2023

Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

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Fleszar, Z., Dufke, C., Sturm, M. et al. Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxi...

Communicating Health Literacy on Prescription Medications on Social Media: In-depth Interviews With “Patient Influencers”

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Willis E, Friedel K, Heisten M, Pickett M, Bhowmick A; Communicating Health Literacy on Prescription Medications on Social Media: In-depth I...

Adenosine Improves Mitochondrial Function and Biogenesis in Friedreich’s Ataxia Fibroblasts Following L-Buthionine Sulfoximine-Induced Oxidative Stress

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Lew, S.Y.; Mohd Hisam, N.S.; Phang, M.W.L.; Syed Abdul Rahman, S.N.; Poh, R.Y.Y.; Lim, S.H.; Kamaruzzaman, M.A.; Chau, S.C.; Tsui, K.C.; Lim...