Thursday, April 9, 2020

Long-term voluntary running prevents the onset of symptomatic Friedreich’s ataxia in mice

›
Henan Zhao, Beven M. Lewellen, Rebecca J. Wilson, Di Cui, Joshua C. Drake, Mei Zhang & Zhen Yan; Sci Rep 10, 6095 (2020). doi:10.1038/s4...
Monday, April 6, 2020

Progress towards drug discovery for Friedreich’s Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein

›
Xiulong Shen, Johnathan Wong, Thahza P. Prakash, Frank Rigo, Yanjie Li, Marek Napierala, David R. Corey; Bioorganic & Medicinal Chemistr...
Thursday, April 2, 2020

High levels of frataxin overexpression leads to mitochondrial and cardiac toxicity in mouse models

›
Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Helene Puccio; bioRxiv 2020.03.31.015255; doi:10.1101/2020.03.31....
Tuesday, March 31, 2020

Disarrangement of Endoplasmic reticulum-mitochondria communication impairs Ca2+ homeostasis in FRDA

›
Laura R Rodríguez, Pablo Calap-Quintana, Tamara Lapeña-Luzón, Federico V Pallardó, Stephan Schneuwly, Juan Antonio Navarro Langa, Pilar Gonz...
Monday, March 30, 2020

Cofilin dysregulation alters actin turnover in frataxin-deficient neurons

›
Diana C. Muñoz-Lasso, Belén Mollá, Pablo Calap-Quintana, José Luis García-Giménez, Federico V. Pallardo, Francesc Palau & Pilar Gonzalez...
Sunday, March 29, 2020

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

›
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

›
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

›
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

›
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

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