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1MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
المؤلفون: Flower, Michael, Lomeilkaite, Vilila, Ciosi, Marc, Cumming, Sarah, Morales, Fernando, Lo, Kitty, Hensman Moss, Davina, Jones, Lesley, Holmans, Peter, Monckton, Darren G., Tabrizi, Sarah J., Kraus, Peter, Hoffman, Rainer, Tobin, Alan, Borowsky, Beth, Keenan, S., Whitlock, Kathryn B., Queller, Sarah, Campbell, Colin, Wang, Chiachi, Langbehn, Doug, Axelson, Eric, Johnson, Hans, Acharya, Tanka, Cash, Dave M., Frost, Chris, Jones, Rebecca, Jurgens, Caroline, ‘t Hart, Ellen P., van der Grond, Jeroen, Witjes- Ane, Marie-Noelle N., Roos, Raymund A. C., Dumas, Eve M., van den Bogaard, Simon J. A., Stopford, Cheryl, Craufurd, David, Callaghan, Jenny, Arran, Natalie, Rosas, Diana D., Lee, S., Monaco, W., O’Regan, Alison, Milchman, Cassie, Frajman, E., Labuschagne, Izelle, Stout, Julie, Campbell, Melissa, Andrews, Sophie C., Bechtel, Natalie, Reilmann, Ralf, Bohlen, Stefan, Kennard, Chris, Berna, Claire, Hicks, Stephen, Durr, Alexandra, Pourchot, C., Bardinet, Eric, Nigaud, Kevin, Valabre`gue, Romain, Lehericy, Stephane, Marelli, Cecilia, Jauffret, Celine, Justo, Damian, Leavitt, Blair, Decolongon, Joji, Sturrock, Aaron, Coleman, Alison, Dar Santos, Rachelle, Patel, A., Gibbard, Claire, Whitehead, Daisy, Wild, Ed, Owen, Gail, Crawford, Helen, Malone, Ian, Lahiri, Nayana, Fox, Nick C., Hobbs, Nicola Z., Scahill, Rachael I., Ordidge, Roger, Pepple, Tracey, Read, Joy, Say, Miranda J., Landwehrmeyer, Bernhard, Daidj, Ferroudja, Bassez, Guillaume, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Catt, Michael, van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Dittrich, Juliane, Kierkegaard, Marie, Wenninger, Stephan, Schoser, Benedikt, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolff, Martin, Jellinek, Anna, Moreno, Cecilia Jimenez, Gorman, Grainne, Lochmüller, Hanns, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaia, Antonio, Raaphorst, Joost, Okkersen, Kees, Engelen, Baziel van, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Maas, Daphne, Klerks, Ellen, Bouman, Sacha, Knoop, Hans, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Glennon, Jeffrey, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Treweek, Shaun, Hogarth, Fiona, Littleford, Roberta, Donnan, Peter, Hapca, Adrian, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Cumming, Sarah A., Adam, Berit, Faber, Catharina, Merkies, Ingemar, TRACK-HD Investigators, OPTIMISTIC Consortium
المساهمون: Neurology, ANS - Neurodegeneration, APH - Mental Health, Medical Psychology
المصدر: Brain, vol. 142(7), 1876-1886
Kérwá
Universidad de Costa Rica
instacron:UCR
Brain, 142(7), 1876-1886. Oxford University Press
Brainمصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Single-nucleotide polymorphism, Biology, association study, Myotonic dystrophy, transcriptomics, 03 medical and health sciences, Exon, 0302 clinical medicine, Huntington's disease, mental disorders, medicine, Allele, Genetics, myotonic dystrophy, medicine.disease, nervous system diseases, Minor allele frequency, 030104 developmental biology, MSH3, movement disorders, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Reports, Huntington’s disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a993f06f218cfd69be5c9eb70d0d09Test
https://doi.org/10.1093/brain/awz115Test -
2
المؤلفون: Valcárcel-Ocete, Leire, Fullaondo, Asier, Alkorta-Aranburu, Gorka, García-Barcina, María, Roos, Raymund A. C., Hjermind, Lena E., Saft, Carsten, Frontali, Marina, Reilmann, Ralf, Rickards, Hugh, REGISTRY investigators of the European Huntington’s Disease Network (EHDN), Romano, Silvia, Zubiaga, Ana M., Aguirre, Ana.
المصدر: PLoS ONE
Addi. Archivo Digital para la Docencia y la Investigación
instname
PLoS ONE, Vol 13, Iss 5, p e0197975 (2018)
PloS one 13 (2018). doi:10.1371/journal.pone.0197975
info:cnr-pdr/source/autori:Valcarcel-Ocete L.; Fullaondo A.; Alkorta-Aranburu G.; Garcia-Barcina M.; Roos R.A.C.; Hjermind L.E.; Saft C.; Frontali M.; Reilmann R.; Rickards H.; Zubiaga A.M.; Aguirre A./titolo:Does arterial hypertension influence the onset of Huntington's disease?/doi:10.1371%2Fjournal.pone.0197975/rivista:PloS one/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:13
PLoS ONE, 13(5)مصطلحات موضوعية: HD, 0301 basic medicine, Male, lcsh:Medicine, Blood Pressure, Disease, Alzheimer's Disease, Vascular Medicine, Huntington’s disease (HD), 0302 clinical medicine, Medicine and Health Sciences, Age of Onset, alzheimers-disease, lcsh:Science, risk, Multidisciplinary, Movement Disorders, Pharmaceutics, Confounding, Drugs, Neurodegenerative Diseases, Parkinson Disease, Middle Aged, Huntingtin gene, Huntington Disease, Antihypertensive Drugs, Neurology, Genetic Diseases, Cohort, Hypertension, antihypertensive agent, Female, Analysis of variance, Research Article, medicine.medical_specialty, genetics and molecular biology, Patients, 03 medical and health sciences, Pharmacotherapy, Age of onset (AO), Huntington's disease, Drug Therapy, Arterial hypertension (AHT), Internal medicine, Mental Health and Psychiatry, medicine, Humans, parkinson-disease, biochemistry, Alleles, Clinical Genetics, Pharmacology, business.industry, lcsh:R, Autosomal Dominant Diseases, medicine.disease, Health Care, 030104 developmental biology, age, Neurodegenerative disorders, lcsh:Q, Dementia, Age of onset, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5da4a707c4a167e3da6959b32e0dc9cTest
http://hdl.handle.net/11573/1131766Test