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Acta Neuropathologica Communications|May 21, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolismSandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, et al.Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, et al.Brain : a Journal of Neurology|March 30, 2026
Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L familyJustin Y Kwan, Christian I Lantz, Vlad A Korobeynikov, et al.Medrxiv : the Preprint Server for Health Sciences|October 3, 2025
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L familyJustin Y Kwan, Christian I Lantz, Vlad A Korobeynikov, et al.Brain : a Journal of Neurology|April 22, 2026
Machine learning model based on plasma proteomics for the identification of Parkinson's diseaseBoluwatife Adewale, Ruth Chia, Ruin Moaddel, et al.Nature Medicine|August 19, 2025
A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosisRuth Chia, Ruin Moaddel, Justin Y Kwan, et al.Autophagy|September 12, 2012
Guidelines for the use and interpretation of assays for monitoring autophagyDaniel J Klionsky, Fabio C Abdalla, Hagai Abeliovich, et al.Pageof 17