지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 33 - 36 (4page)
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초록· 키워드
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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with numerous causes that include genetic factors. Efforts to reveal the genetics of ALS have identified several candidate genes that are associated with familial and sporadic ALS. Here we report a Korean ALS patient who showed prominent upper motor-neuron-related symptoms with marked brain atrophy and neuropsychological deficits. The findings were highly suggestive of ALS in a patient with a likely pathogenic FIG4 variant.
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등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Renton AE / 2014 / State of play in amyotrophic lateral sclerosis genetics / Nat Neurosci 17:17~23
Kim HJ / 2016 / Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing / Neurobiol Aging 37:209. e9~209. e16
Chow CY / 2007 / Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J / Nature 448:68~72
Chow CY / 2009 / Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS / Am J Hum Genet 84:85~88
Campeau PM / 2013 / Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase / Am J Hum Genet 92:781~791
Kim HJ / 2016 / Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing / Neurobiol Aging 37:209. e9~209. e16
Chow CY / 2007 / Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J / Nature 448:68~72
Chow CY / 2009 / Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS / Am J Hum Genet 84:85~88
Campeau PM / 2013 / Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase / Am J Hum Genet 92:781~791
함께 읽어보면 좋을 논문
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근위축성측삭경화증(Amyotrophic Lateral Sclerosis) 환자들의 인구사회학적 요인에 따른 생존의 차이
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