CAG repeat expansion > 통합검색

통합검색

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1CAG repeat expansion

'CAG repeat expansion' 에 대한 통합검색결과 13건입니다.

한빛사13건

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- 조희진(칠곡경북대학교병원)
- 박진성(칠곡경북대학교병원)
Characteristics of spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients
- Brain Published: 27 May 2022 | https://doi.org/10.1093/brain/awac198
- 2022.05
- 의약학
- 이종민(Massachusetts General Hospital / Harvard Medical School)
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
- Am. J. Hum. Genet. Available online 23 March 2022 | https://doi.org/10.1016/j.ajhg.2022.03.004
- 2022.03
- 생명과학
SUPT4H1-edited stem cell therapy rescues neuronal dysfunction in a mouse model for Huntington’s disease
- npj Regen. Med. Published 19 January 2022 | https://doi.org/10.1038/s41536-021-00198-0
- 2022.01
- 생명과학
- 김경희(Massachusetts General Hospital, Harvard Medical School)
- 이종민(Massachusetts General Hospital / Harvard Medical School, University of Ulm, the Broad Institute of MIT and Harvard )
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
- Am. J. Hum. Genet. Volume 107, Issue 1, 2 July 2020, Pages 96-110 | https://doi.org/10.1016/j.ajhg.2020.05.012
- 2020.07
- 생명과학
- 이종민(Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium)
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset
- Cell Volume 178, ISSUE 4, P887-900.e14, August 08, 2019 | DOI:https://doi.org/10.1016/j.cell.2019.06.036
- 2019.08
- 생명과학
- 서재홍(Harvard Medical School, Massachusetts General Hospital)
Loss of Ataxin-1 Potentiates Alzheimer’s Pathogenesis by Elevating Cerebral BACE1 Transcription
- Cell Volume 178, ISSUE 5, P1159-1175.e17, August 22, 2019 | DOI:https://doi.org/10.1016/j.cell.2019.07.043
- 2019.08
- 이종민(Massachusetts General Hospital / Harvard Medical School, the Broad Institute of MIT and Harvard)
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase
- Am. J. Hum. Genet. Available online 16 August 2018 | https://doi.org/10.1016/j.ajhg.2018.07.017
- 2018.08
- 생명과학
- 금재환(Massachusetts General Hospital)
- 이종민(Massachusetts General Hospital / Harvard Medical School, Broad Institute of MIT and Harvard, Genetic Modifiers of Huntington’s Disease Consortium)
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.
- Am. J. Hum. Genet. Volume 98, Issue 2, 4 February 2016, Pages 287–298 | doi:10.1016/j.ajhg.2015.12.018
- 2016.02
- 생명과학
- 이종민(Massachusetts General Hospital / Harvard Medical School, Broad Institute of Harvard and MIT)
Sequence-Level Analysis of the Major European Huntington Disease Haplotype
- Am. J. Hum. Genet. Available online 27 August 2015 | DOI: http://dx.doi.org/10.1016/j.ajhg.2015.07.017
- 2015.08
- 생명과학
- 이종민(Massachusetts General Hospital / Harvard Medical School)
Identification of Genetic Factors that Modify Clinical Onset of Huntington‘s Disease
- Cell Volume 162, Issue 3, 30 July 2015, Pages 516–526 | doi:10.1016/j.cell.2015.07.003
- 2015.07
- 생명과학
- 이종민(Massachusetts General Hospital / Harvard Medical School)
Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
- Am. J. Hum. Genet. Volume 90, Issue 3, 434-444, 9 March 3012 | doi:10.1016/j.ajhg.2012.01.005
- 2012.03
- 생명과학
- 이윤태(Baylor College of Medicine)
miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis
- Nat. Neurosci. Published online: 31 August 2008 | doi:10.1038/nn.2183
- 2008.08
- 생명과학
- 정준일(University of Pennsylvania)
CREB-Binding Protein Modulates Repeat Instability in a Drosophila Model for PolyQ Disease
- Science Vol. 315. no. 5820, pp. 1857 - 1859
- 2007.03