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...
Thursday, April 27, 2023

Mitochondria hormesis delays aging and associated diseases in Caenorhabditis elegans impacting on key ferroptosis players

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Mitochondria hormesis delays aging and associated diseases in Caenorhabditis elegans impacting on key ferroptosis players. Schiavi, Alfonso ...
Monday, April 24, 2023

Establishing efficacy based on single-arm trials submitted as pivotal evidence in a marketing authorisation - Scientific guideline

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First published: 21/04/2023, Consultation dates: 21/04/2023 to 30/09/2023; EMA/CHMP/564424/2021 This reflection paper is intended to reflec...
Wednesday, April 19, 2023

The role of HDAC3 and its inhibitors in regulation of oxidative stress and chronic diseases

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He, R., Liu, B., Geng, B. et al. The role of HDAC3 and its inhibitors in regulation of oxidative stress and chronic diseases. Cell Death Dis...