Monday, January 6, 2020

Researchers suggest a pathway to reverse the genetic defect of Friedreich's ataxia

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Alexandra N. Khristich el al., "Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication d...
Friday, January 3, 2020

Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA

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Rosita Shishegar, Ian H. Harding, Louise A. Corben, Martin B. Delatycki, Elsdon Storey, Gary F. Egan, Nellie Georgiou-Karistianis; Cerebellu...
Sunday, December 29, 2019

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort

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Emily Xiong, Abigail E. Lynch, Louise A. Corben, Martin B. Delatycki, S.H. Subramony, Khalaf Bushara, Christopher M. Gomez, J. Chad Hoyle, G...
Friday, December 27, 2019

Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia

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Mariana Igoillo-Esteve, Ana F. Oliveira, Cristina Cosentino, Federica Fantuzzi, Céline Demarez, Sanna Toivonen, Amélie Hu, Satyan Chintawar,...
Thursday, December 26, 2019

Antioxidant-mediated protective role of Hericium erinaceus (Bull.: Fr.) Pers. against oxidative damage in fibroblasts from Friedreich’s ataxia patient

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LEW, Sze-Yuen; YOW, Yoon-Yen; LIM, Lee-Wei; WONG, Kah-Hui; SciELO journals. Dataset doi:10.6084/m9.figshare.11390835.v1 In this study, we ...
Tuesday, December 24, 2019

Rating scales for rare neurological diseases

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Massimo Pandolfo; Neurol Genet Dec 2019, 5 (6) e380; DOI: 10.1212/NXG.0000000000000380 While only future experience will establish whether...
Monday, December 23, 2019

Nanoscopic X‐ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients

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De Samber, B., Vanden Berghe, T., Meul, E., Bauters, S., Seyrich, M., Smet, J., De Paepe, B., da Silva, J.C., Bohic, S., Cloetens, P., Van C...
Sunday, December 22, 2019

Age of onset determines intrinsic functional brain architecture in Friedreich ataxia

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Naeije, G., Wens, V., Coquelet, N., Sjøgård, M., Goldman, S., Pandolfo, M. and De Tiège, X.P. (2019). Ann Clin Transl Neurol. doi:10.1002/a...
Saturday, December 21, 2019

Psychometric properties of the Friedreich Ataxia Rating Scale

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Christian Rummey, Louise A. Corben, Martin B. Delatycki, S.H. Subramony, Khalaf Bushara, Christopher M. Gomez, Joseph Chad Hoyle, Grace Yoon...
Friday, December 20, 2019

A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich’s ataxia

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Tommaso Vannocci, Simone Dinarelli, Marco Girasole, Annalisa Pastore & Giovanni Longo; Sci Rep 9, 19282 (2019) doi:10.1038/s41598-019-55...