Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Por Choi, Ye Ji, Hyun, Young Se, Nam, Soo Hyun, Koo, Heasoo, Hong, Young Bin, Chung, Ki Wha, Choi, Byung-Ok
Publicado no J Clin Neurol (2015)

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

Por Nam, Soo Hyun, Hong, Young Bin, Hyun, Young Se, Nam, Da Eun, Kwak, Geon, Hwang, Sun Hee, Choi, Byung-Ok, Chung, Ki Wha
Publicado no Mol Cells (2016)

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

Por Park, Jin, Hyun, Young Se, Kim, Ye Jin, Nam, Soo Hyun, Kim, Sung-hee, Hong, Young Bin, Park, Jin-Mo, Chung, Ki Wha, Choi, Byung-Ok
Publicado em 2013

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

Por Choi, Byung-Ok, Hwang, Jung Hee, Cho, Eun Min, Jeong, Eun Hye, Hyun, Young Se, Jeon, Hyeon Jeong, Seong, Ki Min, Cho, Nam Soo, Chung, Ki Wha
Publicado em 2010

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

Por Hong, Young Bin, Lee, Ja Hyun, Park, Jin-Mo, Choi, Yu-Ri, Hyun, Young Se, Yoon, Bo Ram, Yoo, Jeong Hyun, Koo, Heasoo, Jung, Sung-Chul, Chung, Ki Wha, Choi, Byung-Ok
Publicado em 2013

A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14

Por Choi, Byung-Ok, Kang, Sung Hee, Hyun, Young Se, Kanwal, Sumaria, Park, Sun Wha, Koo, Heasoo, Kim, Sang-Beom, Choi, Young-Chul, Yoo, Jeong Hyun, Kim, Jong-Won, Park, Kee Duk, Choi, Kyoung-Gyu, Kim, Song Ja, Züchner, Stephan, Chung, Ki Wha
Publicado em 2011

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

Por Hong, Young Bin, Joo, Jaesoon, Hyun, Young Se, Kwak, Geon, Choi, Yu-Ri, Yeo, Ha Kyung, Jwa, Dong Hwan, Kim, Eun Ja, Mo, Won Min, Nam, Soo Hyun, Kim, Sung Min, Yoo, Jeong Hyun, Koo, Heasoo, Park, Hwan Tae, Chung, Ki Wha, Choi, Byung-Ok
Publicado no PLoS Genet (2016)