Yuqing Guan
Guangzhou, China
Last Updated: 09/26/2026
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Found 12 publications
Correction: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Journal: Acta neuropathologica communications
Published: May 06, 2025
Induced pluripotent stem cells carrying novel APTX mutations presented defective neural differentiation with the accumulation of DNA single-strand breaks.
Journal: Cell death discovery
Published: December 17, 2024
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Journal: Acta neuropathologica communications
Published: October 10, 2024
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.
Journal: Skeletal muscle
Published: November 21, 2022
Reduced mitochondrial size in hippocampus and psychiatric behavioral changes in the mutant mice with homologous mutation of Timm8a1-I23fs49X.
Journal: Frontiers in cellular neuroscience
Published: June 21, 2022
Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.
Journal: Frontiers in neurology
Published: April 14, 2021
Graft-vs-Host Disease-Induced Hyperthyroidism in a Recipient of Allogeneic Hematopoietic Stem Cell Transplantation: A Case Report.
Journal: Transplantation proceedings
Published: March 26, 2020
Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.
Journal: Journal of medical genetics
Published: March 05, 2020
A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment.
Journal: Journal of the neurological sciences
Published: December 21, 2016
Comparison of clinical and physiological characteristics between Kennedy disease and amyotrophic lateral sclerosis
Journal: Nan fang yi ke da xue xue bao = Journal of Southern Medical University
Published: November 22, 2014
Unilateral symptomatic intracranial arterial stenosis and myopathy in an adolescent with Graves disease: a case report of an high-resolution magnetic resonance imaging study.
Journal: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
Published: July 22, 2014
Expression of monocarboxylate transporter 8 mRNA in the brain tissue of rats with cerebral ischemia
Journal: Nan fang yi ke da xue xue bao = Journal of Southern Medical University
Published: June 16, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026