Key publications:

Kornblum C, Lamperti C, Parikh S. Currently available therapies in mitochondrial disease. Handb Clin Neurol. 2023; 194:189-206. doi:10.1016/B978-0-12-821751-1.00007-5. PMID: 36813313.

Sarparanta J, Jonson PH, Reimann J, Vihola A, Luque H, Penttilä S, Johari M, Savarese M, Hackman P, Kornblum C, Udd B. Extension of the DNAJB2a isoform in a dominant neuromyopathy family. Hum Mol Genet. 2023 Oct 17;32(21):3029-3039. doi: 10.1093/hmg/ddad058. PMID: 37070754; PMCID: PMC10586202.

Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H. The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD). Brain. 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. PMID: 37186601; PMCID:PMC10545502.

Winkler M, von Landenberg C, Kuchenbecker K, Reimann J, Kornblum C. Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease. Neuromuscul Disord. 2022 Mar;32(3):195-205. doi: 10.1016/j.nmd.2022.01.001. Epub 2022 Jan 13. PMID: 35120758.

Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. PMID: 34146515.