A nonsense mutation inCHCHD2in a patient with Parkinson disease
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Reference8 articles.
1. Progress in unraveling the genetic etiology of Parkinson disease in a genomic era
2. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples
3. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly
4. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
5. CHCHD2 and Parkinson's disease
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1. Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes;Acta Neuropathologica;2024-05-15
2. Loss of CHCHD2 Stability Coordinates with C1QBP/CHCHD2/CHCHD10 Complex Impairment to Mediate PD-Linked Mitochondrial Dysfunction;Molecular Neurobiology;2024-03-07
3. Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson’s disease phenotypes in vivo and in cell models;Journal of Biomedical Science;2024-02-23
4. Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10–what distinguishes the two?;Frontiers in Cell and Developmental Biology;2022-09-09
5. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update;Movement Disorders;2022-04-28
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