Saturday, October 30, 2021

Left atrial appendage thrombosis in a patient with Friedreich Ataxia–related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation

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. Michele Russo, Annachiara Nuzzo, Matteo Foschi, Simona Boarin, Stefano Lorenzetti, Corrado Tomasi, Pietro Querzani, Andrea Rubboli. SAGE O...

Tract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia

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Ana Luisa C.C. Hernandez MD,Thiago J.R. Rezende PhD,Alberto R.M. Martinez MD, PhD,Mariana R. de Brito MD,Marcondes C. França Jr MD, PhD; Mov...
Friday, October 29, 2021

Targeting 3′ and 5′ untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression

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Yanjie Li, Jixue Li, Jun Wang, David R Lynch, Xiulong Shen, David R. Corey, Darshan Parekh, Balkrishen Bhat, Caroline Woo, Jonathan J Cherry...
Saturday, October 23, 2021

Iron Metabolism in Pancreatic Beta-Cell Function and Dysfunction

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Marku, A.; Galli, A.; Marciani, P.; Dule, N.; Perego, C.; Castagna, M.; Cells 2021, 10, 2841. doi:10.3390/cells10112841  Iron is an essenti...

FDA refusal of Stealth Bio drug shows challenges of ultra-rare disease studies

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https://medcitynews.com The FDA refused to review Stealth BioTherapeutics’ Barth syndrome drug, telling the company results in a study of ju...

Mitochondrial Iron-Sulfur Cluster Biogenesis and Neurological Disorders

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Arthavan Selvanathan, Bindu Parayil Sankaran; Mitochondrion, 2021, doi:10.1016/j.mito.2021.10.004. This review focuses on the disorders of I...
Thursday, October 21, 2021

Variables affecting pricing of orphan drugs: the Italian case

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Claudio Jommi, Elisabetta Listorti, Federico Villa, Simone Ghislandi, Armando Genazzani, Agnese Cangini & Francesco Trotta; Orphanet J ...
Sunday, October 17, 2021

In vivo assessment of OXPHOS capacity using 3 T CrCEST MRI in Friedreich's ataxia

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Schur GM, Dunn J, Nguyen S, Dedio A, Wade K, Tamaroff J, Mitta N, Wilson N, Reddy R, Lynch DR, McCormack SE.; J Neurol. 2021 Oct 15. doi: 10...
Thursday, October 14, 2021

Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]-FEMPA PET Study

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Khan, W., Corben, L.A., Bilal, H., Vivash, L., Delatycki, M.B., Egan, G.F. and Harding, I.H. (2021), Mov Disord. doi:10.1002/mds.28825  Neur...
Thursday, October 7, 2021

Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study

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Norrish G, Rance T, Montanes E, Field E, Brown E, Bhole V, Stuart G, Uzun O, McLeod KA, Ilina M, Adwani S, Daubeney P, Delle Donne G, Linter...