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Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W by Bernardo A. Bustillos, Liam T. Cocker, Mathew A. Coban, Caleb A. Weber, Jenny M. Bredenberg, Paige K. Boneski, Joanna Siuda, Jaroslaw Slawek, Andreas Puschmann, Derek P. Narendra, Neill R. Graff-Radford, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross, Thomas R. Caulfield, Wolfdieter Springer, Fabienne C. Fiesel
Published 2024-09-01Get full text
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Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism by Sandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, Minea Rokka, Bowen Hu, Jouni Kvist, Fuping Zhang, Tomáš Zárybnický, Kimmo Haimilahti, Liliya Euro, Eija Pirinen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Emilia Kuuluvainen, Swetha Gopalakrishnan, Pekka Katajisto, Ville Hietakangas, Thibaut Burg, Ludo Van Den Bosch, Xiaoping Huang, Derek P. Narendra, Satu Kuure, Emil Ylikallio, Henna Tyynismaa
Published 2025-05-01Get full text
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