Associated Papers
Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.
Jia Y et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E et al.
Genetics and Molecular Biology, 2020
[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].
Lin SZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy.
Fang XJ et al.
Chinese Medical Journal, 2017
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
Imagawa E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
He XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R et al.
European Journal of Human Genetics : Ejhg, 2014
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
Heidary G et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2014
[Hereditary spastic paraplegia: up to date].
Takiyama Y
Rinsho Shinkeigaku = Clinical Neurology, 2014
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A et al.
Journal of Neuromuscular Diseases, 2014
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
Shimazaki H et al.
Journal of Medical Genetics, 2012