Search Results - "Nam, Soo H."

Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements by Lee, Ah J., Nam, Da E., Choi, Yu J., Noh, Seung W., Nam, Soo H., Lee, Hye J., Kim, Seung J., Song, Gyun J., Choi, Byung‐Ok, Chung, Ki W.

“…Background Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are developed by duplication and…”
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Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family by Nam, Da E., Nam, Soo H., Lee, Ah J., Hong, Young B., Choi, Byung‐Ok, Chung, Ki W.

“…Heat shock protein B3 (HSPB3) gene encodes a small heat‐shock protein 27‐like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3…”
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A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis by Park, Hyung J., Kim, Hye J., Hong, Young B., Nam, Soo H., Chung, Ki W., Choi, Byung-Ok

“…Mutations in the inverted formin‐2 (INF2) gene were recently identified in patients with autosomal dominant intermediate Charcot‐Marie‐Tooth (DI‐CMT) disease…”
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Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family by Nam, Da E, Nam, Soo H, Lee, Ah J, Hong, Young B, Choi, Byung-Ok, Chung, Ki W

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