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A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution 원문보기

Experimental neurobiology : en, v.27 no.6, 2018년, pp.550 - 563  

Heo, Keunjung (Department of Brain and Cognitive Sciences and Dental Research Institute, Seoul National University, Seoul 08826, Korea .) ,  Lim, Su Min (Department of Neurology, College of Medicine, Hanyang University, Seoul 04763, Korea .) ,  Nahm, Minyeop (Department of Neurology, College of Medicine, Hanyang University, Seoul 04763, Korea .) ,  Kim, Young-Eun (Department of Laboratory Medicine, College of Medicine, Hanyang University, Seoul 04763, Korea .) ,  Oh, Ki-Wook (Department of Neurology, College of Medicine, Hanyang University, Seoul 04763, Korea .) ,  Park, Hwan Tae (Department of Molecular Neuroscience, College of Medicine, Dong-A University, Busan 49201, Korea .) ,  Ki, Chang-Seok (Green Cross Genome Corporation, Yongin 16924, Korea .) ,  Kim, Seung Hyun (Department of Neurology, College of Medicine, Hanyang University, Seoul 04763, Korea .) ,  Lee, Seungbok (Department of Brain and Cognitive Sciences and Dental Re)

Abstract AI-Helper 아이콘AI-Helper

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is frequently linked to microtubule abnormalities and mitochondrial trafficking defects. Whole exome sequencing (WES) of patient-parent trios has proven to be an efficient strategy for identifying rare de novo genetic vari...

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참고문헌 (43)

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