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Nature, ISSN 0028-0836, 04/2019, Volume 568, Issue 7753, pp. 458 - 458
Journal Article
NATURE, ISSN 0028-0836, 04/2019, Volume 568, Issue 7753, pp. 458 - 458
Journal Article
Neurology, ISSN 0028-3878, 06/2019, Volume 92, Issue 24, pp. e2803 - e2814
OBJECTIVETo determine the value of quantitative MRI in providing imaging biomarkers for disease in 20 different upper and lower leg muscles of patients with... 
FOLLOW-UP | REPEAT | CCG | CLINICAL NEUROLOGY | EXPANSION | 23 | 185 | 120
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 09/2018, Volume 89, Issue Suppl 1, p. A1
Background Huntington’s Disease (HD) is fully penetrant when ≥40 CAG repeats are present in the Huntingtin gene. CAG repeat length is inconsistent both between... 
Brain
Journal Article
Neurology, ISSN 0028-3878, 09/2019, Volume 93, Issue 10, pp. e995 - e1009
OBJECTIVETo evaluate the role of genetic variation at the DMPK locus on symptomatic diversity in 250 adult, ambulant patients with myotonic dystrophy type 1... 
Index Medicus | Abridged Index Medicus
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 04/2015, Volume 76, p. 98
The expansion of simple sequence CAG*CTG repeats is associated with a number of inherited disorders including Huntington disease (HD), myotonic dystrophy type... 
Huntington's chorea | Genetic engineering
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2016, Volume 87, Issue Suppl 1, pp. A9 - A9
BackgroundThe expanded CAG repeat in the Huntington’s disease (HD) gene HTT is the major contributor to disease onset. The repeat also expands progressively in... 
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 06/2014, Volume 42, Issue 11, pp. 7047 - 7056
Genetically unstable expanded CAG.CTG trinucleotide repeats are causal in a number of human disorders, including Huntington disease and myotonic dystrophy type... 
Journal Article
Journal of Archaeological Science: Reports, ISSN 2352-409X, 04/2019, Volume 24, pp. 556 - 564
Robert Bruce, king of Scots, is a significant figure in Scottish history, and his facial appearance will have been key to his status, power and resilience as a... 
Robert Bruce | Leprosy | Anthropology | Craniofacial | Skeletal
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 01/2019, Volume 6, Issue 3, p. 321
Background: Few adequately-powered studies have systematically evaluated brain morphology in adult-onset myotonic dystrophy type 1 (DM1). Objective: The goal... 
Cerebellum | Neuroimaging | Volumetric analysis | Statistical analysis | Amygdala | Therapeutic applications | Cognitive ability | Substantia alba | Putamen | Substantia grisea | Corpus callosum | Nucleus accumbens | Myotonic dystrophy | Thalamus | Mathematical models | Dystrophy
Journal Article
Neurology, ISSN 0028-3878, 08/2017, Volume 89, Issue 9, pp. 960 - 969
Journal Article
PloS one, ISSN 1932-6203, 2019, Volume 14, Issue 5, pp. e0216407 - e0216407
Genotype-to-phenotype correlation studies in myotonic dystrophy type 1 (DM1) have been confounded by the age-dependent, tissue-specific and expansion-biased... 
Phenotypes | Congenital diseases | Kinases | Tissues | Blood | Musculoskeletal system | Dynamic tests | Genotyping | Myotonic dystrophy | Correlation analysis | Genetic analysis | Alleles | DNA methylation | Mosaicism | Control stability | Dystrophy | Genetic testing | Saliva | Deoxyribonucleic acid--DNA | Age | Genotypes | Cancer | Deoxyribonucleic acid | DNA
Journal Article
by Okkersen, Kees and Jimenez-Moreno, Cecilia and Wenninger, Stephan and Daidj, Ferroudja and Glennon, Jeffrey and Cumming, Sarah and Littleford, Roberta and Monckton, Darren and Monckton, Darren G and Lochmüller, Hanns and Catt, Sharon and Catt, Michael and Faber, Catharina and Faber, Catharina G and Hapca, Adrian and Donnan, Peter T and Donnan, Peter and Gorman, Gráinne and Bassez, Guillaume and Schoser, Benedikt and Knoop, Hans and Treweek, Shaun and van Engelen, Baziel and van Engelen, Baziel G M and Kierkegaard, Marie and Maas, Daphne and Nikolaus, Stephanie and Cornelissen, Yvonne and van Nimwegen, Marlies and Klerks, Ellen and Bouman, Sacha and Heskamp, Linda and Heerschap, Arend and Rahmadi, Ridho and Groot, Perry and Heskes, Tom and Kapusta, Katarzyna and Abghari, Shaghayegh and Aschrafi, Armaz and Poelmans, Geert and Raaphorst, Joost and Trenell, Michael and van Laar, Sandra and Wood, Libby and Cassidy, Sophie and Newman, Jane and Charman, Sarah and Steffaneti, Renae and Taylor, Louise and Brownrigg, Allan and Day, Sharon and Atalaya, Antonio and Hogarth, Fiona and Schüller, Angela and Stahl, Kristina and Künzel, Heike and Wolf, Martin and Jelinek, Anna and Lignier, Baptiste and Couppey, Florence and Delmas, Stéphanie and Deux, Jean-François and Hankiewicz, Karolina and Dogan, Celine and Minier, Lisa and Chevalier, Pascale and Hamadouche, Amira and Adam, Berit and Hannah, Michael and McKenzie, Emma and Rauchhaus, Petra and Van Hees, Vincent and Schwalber, Ameli and Merkies, Ingemar and Dittrich, Juliane and OPTIMISTIC Consortium and OPTIMISTIC consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 671 - 680
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 01/2017, Volume 25, Issue 1, pp. 24 - 43
Journal Article