المؤلفون: Renée H.L. Raaijmakers, C. Rosanne M. Ausems, Marieke Willemse, Sarah A. Cumming, Baziel G.M. van Engelen, Darren G. Monckton, Hans van Bokhoven, Derick G. Wansink

المصدر: Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Medicine (General), R5-920, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-6512

URL الوصول: https://doaj.org/article/d2979695721748088df787f7fc2a6289

المؤلفون: Jessica Dawson, Fiona K. Baine-Savanhu, Marc Ciosi, Alastair Maxwell, Darren G. Monckton, Amanda Krause

المصدر: HGG Advances, Vol 3, Iss 4, Pp 100130- (2022)

مصطلحات موضوعية: Huntington disease, CAG repeat, CCGCCA loss, cis-acting modifier, African ancestry, genetically diverse, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S266624772200046X; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/fb901a877a004aa2917e333a9bf27205

المؤلفون: Timothy R. Koscik, Ellen van der Plas, Laurie Gutmann, Sarah A. Cumming, Darren G. Monckton, Vincent Magnotta, Richard K. Shields, Peggy C. Nopoulos

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/0e5a87339ef14fe0b3a871680f6a4da9

المؤلفون: Ellen van der Plas, Jeffrey D. Long, Timothy R. Koscik, Vincent Magnotta, Darren G. Monckton, Sarah A. Cumming, Amy C. Gottschalk, Marco Hefti, Laurie Gutmann, Peggy C. Nopoulos

المصدر: Frontiers in Neurology, Vol 12 (2022)

مصطلحات موضوعية: NF-L protein, myotonic dystrophy 1, central nervous system, diffusion magnetic resonance imaging, tau proteins, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.791065/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/009018d5ab65499fb8768c4ab0e95700

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: Jacob N. Miller, Alison Kruger, David J. Moser, Laurie Gutmann, Ellen van der Plas, Timothy R. Koscik, Sarah A. Cumming, Darren G. Monckton, Peggy C. Nopoulos

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: myotonic dystrophy, apathy, hypersomnolence, cognition, depression, fractional anisotropy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.700796/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/e471c06bf36444afb72579129c838841

المؤلفون: Mário Gomes-Pereira, Darren G. Monckton

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: trinucleotide repeat, unstable DNA, mismatch repair, oxidative stress, cadmium, antioxidants, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2020.606331/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/e71e2f08af9c4ff787d1cb15096bd0fa

المؤلفون: Maud van Dorst, Kees Okkersen, Roy P.C. Kessels, Frederick J.A. Meijer, Darren G. Monckton, Baziel G.M. van Engelen, Anil M. Tuladhar, Joost Raaphorst

المصدر: NeuroImage: Clinical, Vol 21, Iss , Pp - (2019)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213158218303607; https://doaj.org/toc/2213-1582

URL الوصول: https://doaj.org/article/559599ea4bbc415e8ada54c25473ba61

المؤلفون: Mark J. Hamilton, John McLean, Sarah Cumming, Bob Ballantyne, Josephine McGhie, Ravi Jampana, Cheryl Longman, Jonathan J. Evans, Darren G. Monckton, Maria Elena Farrugia

المصدر: Frontiers in Neurology, Vol 9 (2018)

مصطلحات موضوعية: myotonic dystrophy, neuropsychology assessment, outcome measures, small pool PCR, voxel based morphometry, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00780/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/aada2f351c4e4812ab6717ab8ab44d56

المؤلفون: Eloise Larson, Ian Fyfe, A. Jennifer Morton, Darren G. Monckton

المصدر: Neurobiology of Disease, Vol 76, Iss , Pp 98-111 (2015)

مصطلحات موضوعية: Huntington disease (HD), Polyglutamine expansion, Trinucleotide repeat expansion, Somatic instability, Mutation, R6/2 mice, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996115000169; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/043be9119e27436f837bd8958f05ef95

المؤلفون: Mário Gomes-Pereira, Darren G. Monckton

المصدر: Frontiers in Cellular Neuroscience, Vol 11 (2017)

مصطلحات موضوعية: trinucleotide DNA repeat, myotonic dystrophy, non-B DNA, ethidium bromide, PCR, agarose, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fncel.2017.00153/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/54121e18a3fd4eeda4c74b5cc0f150aa

المؤلفون: Fernando Morales, Eyleen Corrales, Melissa Vásquez, Baili Zhang, Huberth Fernández, Fernando Alvarado, Sergio Cortés, Carolina Santamaría-Ulloa, Marigold Myotonic Dystrophy Biomarkers Discovery Initiative-MMDBDI, Ralf Krahe, Darren G Monckton

المصدر: Human Molecular Genetics. 32:621-631

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66faf5ce29b261845a90a8f6bbe256e
https://doi.org/10.1093/hmg/ddac231

المؤلفون: Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Jaume Coll-Cantí, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jonathan J. Magaña, Nadia M. Murillo-Melo, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea

المصدر: Genes; Volume 11; Issue 7; Pages: 757

مصطلحات موضوعية: CTG expansion size, myotonic dystrophy type 1, long PCR, small pool-PCR, age of disease onset

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11070757

الاتاحة: https://doi.org/10.3390/genes11070757

المؤلفون: Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Judit Núñez-Manchón, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Carles Puente, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Guillem Pintos-Morell, Jaume Coll-Cantí, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea

المصدر: Genes, Vol 11, Iss 1321, p 1321 (2020)

مصطلحات موضوعية: myotonic dystrophy type 1, somatic instability, CTG expansion, blood, muscle, skin, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/11/11/1321; https://doaj.org/toc/2073-4425; https://doaj.org/article/c23b4ed3218f4218889c8b19c739ef1e

الاتاحة: https://doi.org/10.3390/genes11111321
https://doaj.org/article/c23b4ed3218f4218889c8b19c739ef1e

المؤلفون: Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A Thornton, Simon Rogers, John D McClure, Darren G Monckton

المصدر: PLoS ONE, Vol 15, Iss 4, p e0231000 (2020)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1371/journal.pone.0231000; https://doaj.org/toc/1932-6203; https://doaj.org/article/98c9e046fa80486cac510a3bd487250e

الاتاحة: https://doi.org/10.1371/journal.pone.0231000
https://doaj.org/article/98c9e046fa80486cac510a3bd487250e

المؤلفون: Eyleen Corrales, Melissa Vásquez, Baili Zhang, Carolina Santamaría-Ulloa, Patricia Cuenca, Ralf Krahe, Darren G Monckton, Fernando Morales

المصدر: PLoS ONE, Vol 14, Iss 5, p e0216407 (2019)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1371/journal.pone.0216407; https://doaj.org/toc/1932-6203; https://doaj.org/article/2ad7d19cb5c446329cb2e93f06d76a02

الاتاحة: https://doi.org/10.1371/journal.pone.0216407
https://doaj.org/article/2ad7d19cb5c446329cb2e93f06d76a02

المؤلفون: Walt E. Adamson, Harry Noyes, Paul Johnson, Anneli Cooper, Darren G. Monckton, John Ogunsola, Michael Sullivan, Patrick Mark, Rulan S. Parekh, Annette MacLeod

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8adca9368bf67186913aa6404b590e6c
https://doi.org/10.1101/2023.02.19.23285950

المؤلفون: Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, REGISTRY Investigators of the European Huntington’s disease network, Ioannis Xenarios, Vincent Dion

المصدر: NAR genomics and bioinformatics, vol. 4, no. 4, pp. lqac089

مصطلحات موضوعية: tandem repeats diseases, sequencing, detection software, Structural Biology, Applied Mathematics, Genetics, Molecular Biology, Computer Science Applications

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467b8c6a7d2fd77701af241e15b9bce6
https://doi.org/10.1093/nargab/lqac089

المؤلفون: Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Darren G Monckton, Maria A Ramos-Arroyo

المصدر: A: Pathogenic mechanisms.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::70cbddc9e0f139b6567b510f6c9a0bf8
https://doi.org/10.1136/jnnp-2022-ehdn.1

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