Sunday, March 29, 2020

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

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Gabriela Vilema-Enríquez, Robert Quinlan, Peter Kilfeather, Roberta Mazzone, Saba Saqlain, Irene del Molino del Barrio, Annalidia Donato, Ga...
Saturday, March 28, 2020

Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy

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McKinney JL, Islam MP. Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery. 2020 Ma...
Thursday, March 26, 2020

Onset features and time to diagnosis in Friedreich's Ataxia

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Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, ...
Monday, March 23, 2020

Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study

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Brailova, M.; Clerfond, G.; Trésorier, R.; Minet-Quinard, R.; Durif, J.; Massoullié, G.; Pereira, B.; Sapin, V.; Eschalier, R.; Bouvier, D.;...
Saturday, March 21, 2020

Design Therapeutics Launches with $45 Million to Develop a New Class of Disease-Modifying Therapies for Serious Degenerative Disorders

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SAN DIEGO--(BUSINESS WIRE)--Mar 20, 2020 Design Therapeutics announced today that it is launching to create and develop a new class of ther...
Thursday, March 19, 2020

ENDOTHELIAL FRATAXIN DEFICIENCY DRIVES NUCLEAR REPLICATION STRESS-INDUCED SENESCENCE AND MITOCHONDRIAL DYSFUNCTION ACROSS MULTIPLE SUBTYPES OF PULMONARY HYPERTENSION

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Miranda K. Culley, Jingsi Zhao, Ying Tang, Yi Yin Tai, Dror Perk, Vinny Negi, Yen-Chun Lai, Qiujun Yu, Adam Handen, Gil Speyer, Seungchan Ki...
Tuesday, March 17, 2020

Enhanced production of herpes simplex virus 1 (HSV-1) amplicon vectors by gene modification and optimization of packaging cell growth medium

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Iván Fernández-Frías, Sara Pérez-Luz, Javier Díaz-Nido, Molecular Therapy - Methods & Clinical Development, 2020, doi:10.1016/j.omtm.202...
Friday, March 13, 2020

Advances in drug therapy for mitochondrial diseases.

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Lufei Zhang, Zhaoyong Zhang, Aisha Khan, Hui Zheng, Chao Yuan, Haishan Jiang; Annals of Translational Medicine, 01 Jan 2020, 8(1):17 DOI: 1...
Tuesday, March 10, 2020

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis

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Nunziata Maio, Tracey A. Rouault; Trends in Biochemical Sciences, 2020, doi:10.1016/j.tibs.2020.02.001. Structural determinations of the a...
Sunday, March 8, 2020

The Assessment of Upper Limb Functionality in Friedreich Ataxia via Self-Feeding Activity

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K. D. Nguyen, L. A. Corben, P. N. Pathirana, M. K. Horne, M. B. Delatycki and D. J. Szmulewicz, IEEE Transactions on Neural Systems and Reha...