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Journal of Clinical Neurology (Seoul, Korea)|January 28, 2014
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear MyopathyYoung-Eun Park, Young-Chul Choi, Jong-Suk Bae, et al.
Human Molecular Genetics|August 13, 2015
Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virusYongping Yue, Xiufang Pan, Chady H Hakim, et al.
Gene|June 19, 2015
Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutationMahdiyeh Behnam, Fatemeh Ghorbani, Jin-Hong Shin, et al.
Human Gene Therapy|August 11, 2017
Dual AAV Gene Therapy for Duchenne Muscular Dystrophy with a 7-kb Mini-Dystrophin Gene in the Canine ModelKasun Kodippili, Chady H Hakim, Xiufang Pan, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|October 18, 2023
Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trialYoung-Eun Park, Eunjung Park, Jaeil Choi, et al.
Journal of Genetics|December 18, 2018
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variabilityJae-Ho Jung, Eun Hye Oh, Jin-Hong Shin, et al.
American Journal of Medical Genetics. Part A|July 29, 2021
Autophagic defects observed in fibroblasts from a patient with β-propeller protein-associated neurodegenerationJae-Hyeok Lee, Sang Ook Nam, Eun Kyoung Kim, et al.
Journal of Human Genetics|November 11, 2016
Late-onset episodic ataxia associated with SLC1A3 mutationKwang-Dong Choi, Joanna C Jen, Seo Young Choi, et al.
Neuromuscular Disorders : NMD|April 24, 2017
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean populationJung Hwan Lee, Jin-Hong Shin, Hyung Jun Park, et al.
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