Korean Journal of Sport Science

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Case Reports Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee Kim, Jung Hyun Lee, Dongju Won, Jong Rak Choi, Ha Young Shin, Seung Hyun Kim
J Korean Neurol Assoc. 2025;43(1):35-39.
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Jeong Bin Bong, Seung Woo Kim, Seung-Tae Lee, Jong Rak Choi, Ha Young Shin
J Korean Neurol Assoc. 2019;37(1):69-72.

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