Monday, September 25, 2023

Innovative thinking of clinical investigation for rare disease drug development

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Wang, P., Chow, SC. Innovative thinking of clinical investigation for rare disease drug development. Orphanet J Rare Dis 18, 299 (2023). doi...

Periodontal Treatment of Norwegian Patients With Rare Diseases: A Commentary

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Øystein Fardal, Irene Skau, Jostein Grytten, Periodontal Treatment of Norwegian Patients With Rare Diseases: A Commentary, International Den...
Wednesday, September 20, 2023

Analytical Method and Stability Study for Oral Suspension of Idebenone in Syrspend

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Porru, E.; Piro, F.; Comito, R.; Mosendz, A.; Minniti, E.; Conti, M.; Stancari, A.; Violante, F.S. Analytical Method and Stability Study for...

Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application

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Maheshwari S, Vilema-Enríquez G, Wade-Martins R. Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease ...
Friday, September 15, 2023

Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a Friedreich’s ataxia mouse model

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Turchi R, Sciarretta F, Ceci V, Tiberi M, Audano M, Pedretti S, Panebianco C, Nesci V, Pazienza V, Ferri A, Carotti S, Chiurchiù V, Mitro ...

Neurologic orphan diseases: Emerging innovations and role for genetic treatments

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Kioutchoukova IP, Foster DT, Thakkar RN, Foreman MA, Burgess BJ, Toms RM, Molina Valero EE, Lucke-Wold B. Neurologic orphan diseases: Emergi...

SIRT3 Regulates Clearance of Apoptotic Cardiomyocytes by Deacetylating Frataxin

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Jing Gao, Chenglin Huang, Linghui Kong, Wugang Zhou, Mengwei Sun, Tong Wei and Weili Shen; SIRT3 Regulates Clearance of Apoptotic Car...

Friedreich's ataxia: new insights

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Krasilnikova MM, Humphries CL, Shinsky EM. Friedreich's ataxia: new insights. Emerg Top Life Sci. 2023 Sep 12:ETLS20230017. doi: 10.1042...
Monday, September 11, 2023

Comparative multi-omics analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

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Nicole M. Sayles, Jill S. Napierala, Josef Anrather, Nadège Diedhiou, Jixue Li, Marek Napierala, Hélène Puccio, Giovanni Manfredi; Comparati...

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

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Lynch, D.R., Goldsberry, A., Rummey, C., Farmer, J., Boesch, S., Delatycki, M.B., Giunti, P., Hoyle, J.C., Mariotti, C., Mathews, K.D., Nach...