Kang Yang
Fuzhou, China
Last Updated: 09/26/2026
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Found 14 publications
Bi-allelic loss-of function variants in ATP2A1 cause autosomal recessive Brody disease.
Journal: QJM : monthly journal of the Association of Physicians
Published: July 07, 2025
Novel insight into prediction model for sleep quality among college students: a LASSO-derived sleep evaluation.
Journal: Frontiers in psychiatry
Published: March 01, 2025
GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.
Journal: Nature genetics
Published: February 28, 2025
Age at onset mediates genetic impact on disease severity in facioscapulohumeral muscular dystrophy.
Journal: Brain : a journal of neurology
Published: April 25, 2024
Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.
Journal: Annals of clinical and translational neurology
Published: April 10, 2024
A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: March 19, 2024
Deep brain stimulation in progressive myoclonus epilepsy with SERPINI1 mutation.
Journal: Parkinsonism & related disorders
Published: March 14, 2024
CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: September 26, 2023
Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy.
Journal: Neurology
Published: November 29, 2022
The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.
Journal: Annals of clinical and translational neurology
Published: October 10, 2022
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.
Journal: Acta neuropathologica
Published: February 22, 2022
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Journal: Orphanet journal of rare diseases
Published: January 07, 2022
Last Updated: 09/26/2026