Hai-zhu Chen
Fuzhou, China
Last Updated: 09/26/2026
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Found 10 publications
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.
Journal: Journal of human genetics
Published: August 31, 2025
Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.
Journal: Clinical genetics
Published: December 16, 2024
Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression.
Journal: CNS neuroscience & therapeutics
Published: April 11, 2024
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
A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2.
Journal: Chinese medical journal
Published: November 30, 2021
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease
Published: July 12, 2020
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Journal: Chinese medical journal
Published: May 07, 2019
A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.
Journal: Chinese medical journal
Published: September 12, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026