المؤلفون: Ake T. Lu, Pritika Narayan, Matthew J. Grant, Peter Langfelder, Nan Wang, Seung Kwak, Hilary Wilkinson, Richard Z. Chen, Jian Chen, C. Simon Bawden, Skye R. Rudiger, Marc Ciosi, Afroditi Chatzi, Alastair Maxwell, Timothy A. Hore, Jeff Aaronson, Jim Rosinski, Alicia Preiss, Thomas F. Vogt, Giovanni Coppola, Darren Monckton, Russell G. Snell, X. William Yang, Steve Horvath

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/9415f3c0bb6441ffad6d13aeb09b8ee8

المؤلفون: Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton

المصدر: EBioMedicine, Vol 48, Iss , Pp 568-580 (2019)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396419306243; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/e8c098c00c394408a8d5c2c5d49ab489

المؤلفون: Baehyun Shin, Roy Jung, Hyejin Oh, Gwen E. Owens, Hyeongseok Lee, Seung Kwak, Ramee Lee, Susan L. Cotman, Jong-Min Lee, Marcy E. MacDonald, Ji-Joon Song, Ravi Vijayvargia, Ihn Sik Seong

المصدر: Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 416-428 (2018)

مصطلحات موضوعية: Huntington's disease, full-length huntingtin, single-stranded oligonucleotide, HEAT repeats, polycomb repressive complex 2, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253118300386; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/fc7145233c5c473aaf6cd4dcf749ad7c

المؤلفون: Mahalakshmi Shankaran, Eleonora Di Paolo, Valerio Leoni, Claudio Caccia, Costanza Ferrari Bardile, Hussein Mohammed, Stefano Di Donato, Seung Kwak, Deanna Marchionini, Scott Turner, Elena Cattaneo, Marta Valenza

المصدر: Neurobiology of Disease, Vol 98, Iss , Pp 66-76 (2017)

مصطلحات موضوعية: Huntington, Brain cholesterol, Lathosterol, Striatum, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996116302819; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/c0d37c93e4704693a5dced6666ed9de7

المؤلفون: Michael J Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C Wheeler, Hong Li, Jared C Roach, Leroy Hood, Nancy S Wexler, Laura B Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Lee

المصدر: PLoS Genetics, Vol 14, Iss 5, p e1007274 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5931f4866f45429eade3b1d4c42f0e25

المؤلفون: Peter Langfelder, Fuying Gao, Nan Wang, David Howland, Seung Kwak, Thomas F Vogt, Jeffrey S Aaronson, Jim Rosinski, Giovanni Coppola, Steve Horvath, X William Yang

المصدر: PLoS ONE, Vol 13, Iss 1, p e0190550 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5764268?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b8777b2d13824572b2030ef761c7666a

المؤلفون: Erika L.F. Holzbaur, David S. Howland, Nicholas Weber, Karen Wallace, Yijin She, Seung Kwak, Lioudmilla A. Tchistiakova, Erin Murphy, Joseph Hinson, Riyez Karim, Xiang Yang Tan, Pamela Kelley, Kevin C. McGill, Gareth Williams, Carl Hobbs, Patrick Doherty, Margaret M. Zaleska, Menelas N. Pangalos, Frank S. Walsh

المصدر: Neurobiology of Disease, Vol 23, Iss 3, Pp 697-707 (2006)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, SOD1, Myostatin, GDF-8, Motor neuron disease, Motor neuron degeneration, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996106001379; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/5385387f225b4c7896070fef0238ab72

المؤلفون: Nikisha Carty, Nadège Berson, Karsten Tillack, Christina Thiede, Diana Scholz, Karsten Kottig, Yalda Sedaghat, Christina Gabrysiak, George Yohrling, Heinz von der Kammer, Andreas Ebneth, Volker Mack, Ignacio Munoz-Sanjuan, Seung Kwak

المصدر: PLoS ONE, Vol 10, Iss 4, p e0123527 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4393127?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4aa04b67124f4f039732a83a0dacb17e

المؤلفون: Jeffrey B Carroll, Amy Deik, Elisa Fossale, Rory M Weston, Jolene R Guide, Jamshid Arjomand, Seung Kwak, Clary B Clish, Marcy E MacDonald

المصدر: PLoS ONE, Vol 10, Iss 8, p e0134465 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4546654?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a8690f7be1554d12945d9a4d73f05bec

المؤلفون: Na Gyeong Lee, Hye Jin Kim, Ji Gyeong Kang, Do Hyeon Jeon, Mi Seung Kwak, So Hyun Nam

المصدر: Annals of Clinical Nutrition and Metabolism. 15:30-37

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a6d50a5d3fd30c0e474a6bbe033990e5
https://doi.org/10.15747/acnm.2023.15.1.30

المؤلفون: Min Seung Kwak, Joo Weon Lim, Hyeyoung Kim

المصدر: Mediators of Inflammation, Vol 2021 (2021)

مصطلحات موضوعية: Pathology, RB1-214

Relation: http://dx.doi.org/10.1155/2021/5587297; https://doaj.org/toc/0962-9351; https://doaj.org/toc/1466-1861; https://doaj.org/article/671a94f0f3cf4a00814777f60ae48ef3

الاتاحة: https://doi.org/10.1155/2021/5587297
https://doaj.org/article/671a94f0f3cf4a00814777f60ae48ef3

المؤلفون: Kyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, McLean, Zachariah L., Elezi, Emanuela, Lee, Ramee, Seung Kwak, McAllister, Branduff, Massey, Thomas H., Lobanov, Sergey, Holmans, Peter, Orth, Michael, Ciosi, Marc, Monckton, Darren G., Long, Jeffrey D., Lucente, Diane, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., Jong-Min Lee

المصدر: Proceedings of the National Academy of Sciences of the United States of America; 4/16/2024, Vol. 121 Issue 16, p1-9, 18p

مصطلحات موضوعية: HUNTINGTON disease, LOCUS (Genetics), GENE expression, GENETIC variation, MESSENGER RNA

المؤلفون: Yejin Lee, Hyeongju Kim, Douglas Barker, Ravi Vijayvargia, Ranjit Singh Atwal, Harrison Specht, Hasmik Keshishian, Steven A Carr, Ramee Lee, Seung Kwak, Kyung-gi Hyun, Jacob Loupe, Marcy E MacDonald, Ji-Joon Song, Ihn Sik Seong

المصدر: Human Molecular Genetics. 32:30-45

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b194f96d4acbd54d3d19354cfdd3186
https://doi.org/10.1093/hmg/ddac165

المؤلفون: Hee Seung Kwak, Jeong Ah Park, Hyun-Hwa Lee

المصدر: The Research Journal of the Costume Culture. 30:189-207

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::42854505cc0cad6bbfef459c604873e6
https://doi.org/10.29049/rjcc.2022.30.2.189

المؤلفون: Seung Kwak

المصدر: Finance and Economics Discussion Series. 2022:1-95

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae5ae7f94c7aa30ccc8db2b965e4ee74
https://doi.org/10.17016/feds.2022.008

المؤلفون: Marc Ciosi, Robin Young, Seung Kwak, Darren G Monckton

المصدر: D: Wet biomarkers.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d485defca802d88ae617b4cf7a9266f0
https://doi.org/10.1136/jnnp-2022-ehdn.57

المؤلفون: Seung Kwak, Sarah A. Cumming, Darren G. Monckton, Ricardo Mouro Pinto, Graham Hamilton, A. Jennifer Morton, Eloise Larson, Vanessa C. Wheeler, William Tottey, Marc Ciosi, Afroditi Chatzi, Vilija Lomeikaite

المساهمون: Morton, Jennifer [0000-0003-0181-6346], Apollo - University of Cambridge Repository

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: 0301 basic medicine, Research Report, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Somatic cell, huntingtin, repeat expansion, Mice, Transgenic, Biology, Polymerase Chain Reaction, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mice, 0302 clinical medicine, Huntington's disease, Genotype, mental disorders, medicine, Animals, Allele, Sequence (medicine), Genetics, Huntingtin Protein, Massive parallel sequencing, Mosaicism, parallel sequencing, Sequence Analysis, DNA, Huntington disease, medicine.disease, Somatic mosaicism, nervous system diseases, 030104 developmental biology, Neurology (clinical), Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4135c47bd75f6b3caba1c15107217c3b
http://europepmc.org/articles/PMC7990409

المؤلفون: Marcy E. MacDonald, Darren G. Monckton, Lesley Jones, Vanessa C. Wheeler, Michael Orth, Eun Pyo Hong, Seung Kwak, Peter Holmans, Jong-Min Lee, James F. Gusella, Jeffrey D. Long

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: 0301 basic medicine, genetic association, Locus (genetics), Disease, Review, Biology, genotype-phenotype correlation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, medicine, Humans, genetics, Cognitive decline, Genetic Association Studies, Genetic association, Genetics, modifier gene, Huntingtin Protein, Genes, Modifier, medicine.disease, Human genetics, 030104 developmental biology, Huntington Disease, Human genome, Neurology (clinical), trinucleotide repeat expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4113ad8a6bbd083b7bd611f2484fbe87
http://europepmc.org/articles/PMC7990433

المؤلفون: Roy Jung, Seung Kwak, Jonathan Picker, Tammy Gillis, Diane Lucente, Douglas Barker, Baehyun Shin, David Howland, Ramee Lee, James F. Gusella, Lance H. Rodan, Marcy E. MacDonald, Yejin Lee, Jong-Min Lee, Jayla Ruliera, Jacob M. Loupe, Ihn Sik Seong, Jayalakshmi S. Mysore, Kevin Correia, Ryan L. Collins

المصدر: Hum Mol Genet

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, RNA Splicing, Mutation, Missense, Biology, medicine.disease_cause, Compound heterozygosity, Cell Line, 03 medical and health sciences, Exon, 0302 clinical medicine, Loss of Function Mutation, mental disorders, Genetics, Huntingtin Protein, medicine, Humans, Missense mutation, Amino Acid Sequence, RNA, Messenger, Child, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Heterozygote advantage, Sequence Analysis, DNA, General Medicine, Phenotype, Pedigree, nervous system diseases, Gene Expression Regulation, nervous system, Neurodevelopmental Disorders, Child, Preschool, Female, General Article, Sequence Alignment, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2610e7042074e7b94a21b438c8eaf716
https://doi.org/10.1093/hmg/ddaa283

المؤلفون: Vanessa C. Wheeler, Ramee Lee, Marina Kovalenko, Kyung Hee Kim, Ricardo Mouro Pinto, Ihn Sik Seong, Tammy Gillis, Marissa A Andrew, Marcy E. MacDonald, Seung Kwak, James F. Gusella, Jacob M. Loupe, Jayalakshmi S. Mysore, Ryan Murtha, Jong-Min Lee, David Howland

المصدر: Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, congenital, hereditary, and neonatal diseases and abnormalities, Somatic cell, Cell Cycle Proteins, Biology, MLH1, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene interaction, Huntington's disease, Gene knockin, Ribonucleotide Reductases, mental disorders, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Age of Onset, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, Mice, Knockout, Huntingtin Protein, 0303 health sciences, Endodeoxyribonucleases, Genes, Modifier, General Medicine, medicine.disease, Multifunctional Enzymes, Phenotype, nervous system diseases, Disease Models, Animal, Exodeoxyribonucleases, Huntington Disease, General Article, MutL Protein Homolog 1, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1895734a9be14537a115e5e35ca4479
https://doi.org/10.1093/hmg/ddaa196