Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia

참고문헌 (4)

1. Loureiro JL, "Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey", JAMA Neurol, 70, pp.481~487 (2013)[DOI]
2. 김태형, "Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia", Journal of Clinical Neurology, 10(3), pp.257~261 (2014), 대한신경과학회[DOI]
3. Hewamadduma C, "New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)", Neurogenetics, 10, pp.105~110 (2009)[DOI]
4. Beetz C, "Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V", Am J Hum Genet, 91, pp.139~145 (2012)[DOI]

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