Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications
Minkyeong Kim, Ah Reum Kim, Ji Sun Kim, Jongkyu Park, Jinyoung Youn, Jong Hyeon Ahn, Jun Kyu Mun, Chung Lee, Nam-Soon Kim, Nayoung K. D. Kim, Woong‐Yang Park, Jin Whan Cho
Topics & Concepts
Spinocerebellar ataxiaHereditary spastic paraplegiaAtaxiaExome sequencingMedicinePopulationFrataxinTrinucleotide repeat expansionGeneticsCerebellar ataxiaBiologyPhenotypeGeneAllelePsychiatryEnvironmental healthIron-binding proteinsGenetic Neurodegenerative DiseasesHereditary Neurological DisordersGenomics and Rare Diseases