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1دورية أكاديمية
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)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
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
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3دورية أكاديمية
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 11, p 1321 (2020)
مصطلحات موضوعية: myotonic dystrophy type 1, somatic instability, CTG expansion, blood, muscle, skin, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
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, Vol 11, Iss 7, p 757 (2020)
مصطلحات موضوعية: CTG expansion size, myotonic dystrophy type 1, long PCR, small pool-PCR, age of disease onset, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Emma Bunting, Jasmine Donaldson, Jessica Olive, Holly Kordasiewicz, Frank Bennett, Sarah A Cumming, Darren G Monckton, Michael Flower, Sarah J Tabrizi
المصدر: I: Experimental therapeutics – preclinical.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::604e394122092d5fce756bf132258db0
https://doi.org/10.1136/jnnp-2022-ehdn.227 -
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المؤلفون: Mark J Hamilton, Antonio Atalaia, John McLean, Sarah A Cumming, Jonathan J Evans, Bob Ballantyne, Ravi Jampana, null The Scottish Myotonic Dystrophy Consortium, Cheryl Longman, Eric Livingston, Ellen van der Plas, Timothy Koscik, Peggy Nopoulos, Maria Elena Farrugia, Darren G Monckton
مصطلحات موضوعية: Male, Sleepiness, Neurology, Pediatrics, Perinatology and Child Health, Humans, Myotonic Dystrophy, Neurology (clinical), Disorders of Excessive Somnolence, Sleep, Genetics (clinical), Fatigue
وصف الملف: application/pdf
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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 -
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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)
Frontiers in Neurologyمصطلحات موضوعية: myotonic dystrophy 1, Neurology, NF-L protein, Neurology (clinical), Neurology. Diseases of the nervous system, central nervous system, tau proteins, RC346-429, Original Research, diffusion magnetic resonance imaging
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0e7e5a60b17c77f6ad1a3014d76c7a3
https://www.frontiersin.org/articles/10.3389/fneur.2021.791065/full -
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المؤلفون: Grainne S. Gorman, Ingemar S. J. Merkies, Sarah A. Cumming, Nikoletta Nikolenko, Cecilia Jimenez-Moreno, Catharina G. Faber, Darren G. Monckton, Erik Landfeldt, Hanns Lochmüller, Chris Turner
المساهمون: Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience
المصدر: Acta Neurologica Scandinavica, 141(5), 380-387. Wiley
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, social participation, Activities of daily living, Lower score, Myotonic dystrophy, Disability Evaluation, Young Adult, 03 medical and health sciences, Shower, 0302 clinical medicine, Quality of life (healthcare), REPEAT, Personal hygiene, medicine, Humans, Myotonic Dystrophy, Disabled Persons, 030212 general & internal medicine, Upper body, business.industry, General Medicine, OUTCOME MEASURES, Middle Aged, medicine.disease, Cross-Sectional Studies, Neurology, quality of life, Physical therapy, Female, Observational study, Neurology (clinical), business, activities of daily living, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ad4ee5c209bfd245b8c1c55d334c71
https://doi.org/10.1111/ane.13215 -
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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
Frontiers in Neurology, Vol 12 (2021)مصطلحات موضوعية: cognition, medicine.medical_specialty, hypersomnolence, apathy, Neuropathology, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Apathy, Muscular dystrophy, RC346-429, Depression (differential diagnoses), Original Research, 030304 developmental biology, 0303 health sciences, myotonic dystrophy, business.industry, Muscle weakness, Myotonia, medicine.disease, Neurology, depression, Cardiology, Anxiety, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, fractional anisotropy, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ee66b143da0f30a0c1cb224ba0592b
https://eprints.gla.ac.uk/247938/2/247938.pdf