Showing results (21-30 of 87) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|August 22, 2013
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1Emil Ylikallio, Mridul Johari, Svetlana Konovalova, et al.
Cold Spring Harbor Molecular Case Studies|October 19, 2017
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1CMari Auranen, Jussi Toppila, Saranya Suriyanarayanan, et al.
Neurology. Genetics|June 12, 2018
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T Sainio, Emil Ylikallio, Laura Mäenpää, et al.
Biochimica Et Biophysica Acta|May 4, 2010
Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisationHeini Ruhanen, Sarah Borrie, Gyorgy Szabadkai, et al.
Human Molecular Genetics|April 9, 2013
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathyEmil Ylikallio, Rosanna Pöyhönen, Magdalena Zimon, et al.
Nucleic Acids Research|August 21, 2010
Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in miceEmil Ylikallio, Jennifer L Page, Xia Xu, et al.
Communications Biology|October 5, 2022
Inter-organellar and systemic responses to impaired mitochondrial matrix protein import in skeletal muscleNirajan Neupane, Jayasimman Rajendran, Jouni Kvist, et al.
Communications Biology|December 11, 2025
Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiencyRubén Torregrosa-Muñumer, Jeremi Turkia, Rumeysa Ermiş, et al.
The Journal of Clinical Endocrinology and Metabolism|December 3, 2010
Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twinsHenna Tyynismaa, Taneli Raivio, Antti Hakkarainen, et al.
BBA Clinical|December 18, 2015
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stressEmil Ylikallio, Svetlana Konovalova, Yogesh Dhungana, et al.
Pageof 9