Last Updated: 09/26/2026
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Found 20 publications
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.
Journal: Molecular genetics and metabolism
Published: January 19, 2026
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family.
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family.
Journal: medRxiv : the preprint server for health sciences
Published: October 03, 2025
Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family.
Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family.
Journal: Brain : a journal of neurology
Published: September 16, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.
Journal: Annals of the Child Neurology Society
Published: August 29, 2025
Long-term Alzheimer's disease mortality prediction in adults aged ≥60 years: A prospective cohort study benchmarking survival machine learning algorithms.
Journal: Alzheimer's & dementia (Amsterdam, Netherlands)
Published: August 07, 2025
Novel reporter of the PINK1-Parkin mitophagy pathway identifies its damage sensor in the import gate.
Journal: bioRxiv : the preprint server for biology
Published: March 03, 2025
A unified mechanism for mitochondrial damage sensing in PINK1-Parkin-mediated mitophagy.
Journal: The EMBO journal
Published: February 26, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.
Journal: Acta neuropathologica communications
Published: February 21, 2025
DELE1 promotes translation-associated homeostasis, growth, and survival in mitochondrial myopathy.
Journal: bioRxiv : the preprint server for biology
Published: March 26, 2024
DELE1 maintains muscle proteostasis to promote growth and survival in mitochondrial myopathy.
Journal: The EMBO journal
Published: February 27, 2024
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Journal: Human molecular genetics
Published: June 19, 2023
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.
Journal: The Journal of clinical investigation
Published: December 13, 2021
Last Updated: 09/26/2026