المؤلفون: Estevez-Fraga, C., Altmann, A., Parker, C.S., Scahill, R., Costa, B., Chen, Z.B., Manzoni, C., Zarkali, A., Durr, A., Roos, R.A.C., Landwehrmeyer, B., Leavitt, B.R., Rees, G., Tabrizi, S.J., McColgan, P.

المصدر: Brain

مصطلحات موضوعية: Huntington's disease, atrophy, diffusivity, gene expression, imaging transcriptomics

وصف الملف: application/pdf

العلاقة: https://academic.oup.com/brain/article/146/11/4532/7243440Test; lumc-id: 185131292; https://hdl.handle.net/1887/3715569Test

الإتاحة: https://doi.org/10.1093/brain/awad275Test
https://hdl.handle.net/1887/3715569Test
https://academic.oup.com/brain/article/146/11/4532/7243440Test

المؤلفون: Tabrizi, S.J., Estevez-Fraga, C., Roon-Mom, W.M.C. van, Flower, M.D., Scahill, R.I., Wild, E.J., Munoz-Sanjuan, I., Sampaio, C., Rosser, A.E., Leavitt, B.R.

المصدر: The Lancet Neurology

العلاقة: lumc-id: 174655307; https://hdl.handle.net/1887/3563683Test

الإتاحة: https://doi.org/10.1016/S1474-4422Test(22)00121-1
https://hdl.handle.net/1887/3563683Test

المؤلفون: Engelke, U.F.H., Outersterp, R.E. van, Merx, J., Geenen, F.A.M.G. van, Rooij, A.J.M. van, Berden, G., Huigen, M.C.D.G., Kluijtmans, L.A.J., Peters, T.M.A., Al-Shekaili, H.H., Leavitt, B.R., Vrieze, E. de, Broekman, S., WIjk, E. van, Tseng, L.A., Kulkarni, P., Rutjes, F.P.J.T., Mecinović, J., Struys, E.A., Jansen, Laura M., Gospe, S.M., Jr., Mercimek-Andrews, S., Hyland, K., Willemsen, M.A.A.P., Bok, L.A, Karnebeek, C.D. van, Wevers, R.A., Boltje, T.J., Oomens, J., Martens, J.K., Coene, K.L.M.

المصدر: Journal of Clinical Investigation, 131, 15

مصطلحات موضوعية: Organismal Animal Physiology, Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 2: Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Synthetic Organic Chemistry, FELIX Molecular Structure and Dynamics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/237516/237516.pdfTest; https://repository.ubn.ru.nl/handle/2066/237516Test

الإتاحة: https://doi.org/10.1172/JCI148272Test
https://repository.ubn.ru.nl//bitstream/handle/2066/237516/237516.pdfTest
https://repository.ubn.ru.nl/handle/2066/237516Test

المؤلفون: Estevez-Fraga, C., Scahill, R.I., Durr, A., Leavitt, B.R., Roos, R.A.C., Langbehn, D.R., Rees, G., Gregory, S., Tabrizi, S.J.

المصدر: Movement Disorders

مصطلحات موضوعية: Huntington's disease, composite Unified Huntington's Disease Rating Scale, diffusion tensor imaging, voxel-based morphometry, clinical trials, longitudinal

العلاقة: lumc-id: 176015279; https://hdl.handle.net/1887/3505078Test

الإتاحة: https://doi.org/10.1002/mds.28489Test
https://hdl.handle.net/1887/3505078Test

المؤلفون: Gregory, S., Lohse, K.R., Johnson, E.B., Leavitt, B.R., Durr, A., Roos, R.A.C., Rees, G., Tabrizi, S.J., Scahill, R.I., Orth, M.

المصدر: Journal of Magnetic Resonance Imaging

مصطلحات موضوعية: diffusion, cortical thickness, cortical volume, reliability, statistical power

وصف الملف: application/pdf

العلاقة: lumc-id: 108250239; https://hdl.handle.net/1887/3182769Test

الإتاحة: https://doi.org/10.1002/jmri.27203Test
https://hdl.handle.net/1887/3182769Test

المؤلفون: Langbehn, D.R., Stout, J.C., Gregory, S., Mills, J.A., Durr, A., Leavitt, B.R., Roos, R.A.C., Long, J.D., Owen, G., Johnson, H.J., Borowsky, B., Craufurd, D., Reilmann, R., Landwehrmeyer, G.B., Scahill, R.I., Tabrizi, S.J., Acharya, T., Andrews, S., Arran, N., Axelson, E., Bardinet, E., Bechtel, N., Berna, C., Bohlen, S., Callaghan, J., Cassidy, A., Coleman, A., Crawford, H., Santos, R.D., Decolongon, J., Dumas, E., Fan, M.N., Frost, C., Ghosh, R., Gibbard, C., Hensman-Moss, D., Hobbs, N., Jauffret, C., Johnson, E., Jones, R., Jurgens, C., Justo, D., Keogh, R., Koren, T., Labuschagne, I., Lahiri, N., Lehericy, S., Malone, I., Marelli, C., McColgan, P., Nigaud, K., O'Regan, A., Papoutsi, M., Pepple, T., Petkau, T., Queller, S., Read, J., Say, M., Schoonderbeek, A., Stopford, C., Sturrock, A., Hart, E. 't, Valabregue, R., Bogaard, S. van den, Grond, J. van der, Wang, C.C., Weber, N., Whitehead, D., Witjes-Ane, M.N., TRACK-HD Track-On HD Grps

المصدر: JAMA Neurology, 76(11), 1375-1385
JAMA Neurol

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Clinical study design, Disease, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Huntington's disease, Sample size determination, Internal medicine, Brain size, medicine, 030212 general & internal medicine, Neurology (clinical), business, Trinucleotide repeat expansion, Prospective cohort study, 030217 neurology & neurosurgery, Original Investigation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::177da7de07750f9a3e1cdad1b83189d0Test
https://hdl.handle.net/1887/120789Test

المؤلفون: Ciosi, M., Maxwell, A., Cumming, S.A., Moss, D.J.H., Alshammari, A.M., Flower, M.D., Durr, A., Leavitt, B.R., Roos, R.A.C., Holmans, P., Jones, L., Langbehn, D.R., Kwak, S., Tabrizi, S.J., Monckton, D.G., TRACK-HD Team, Enroll-HD Team

المساهمون: University of Glasgow, University College of London [London] (UCL), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), University of British Columbia (UBC), Leiden University Medical Center (LUMC), MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University-Medical Research Council, Cardiff University, University of Iowa [Iowa City], UK Dementia Research Institute (UK DRI)

المصدر: EBioMedicine, Vol 48, Iss, Pp 568-580 (2019)
EBioMedicine, 48, 568-580
EBioMedicine
EBioMedicine, Elsevier, 2019, 48, pp.568-580. ⟨10.1016/j.ebiom.2019.09.020⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Research paper, Adolescent, Genotype, Somatic cell, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Quantitative Trait Loci, lcsh:Medicine, DNA repair, MLH3, Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Somatic expansion, Humans, Genetic Predisposition to Disease, Child, Alleles, Aged, Genetic association, Genetic association study, Aged, 80 and over, Genetics, Huntingtin Protein, lcsh:R5-920, lcsh:R, Exons, General Medicine, Middle Aged, Polyglutamine tract, Huntington disease, 3. Good health, 030104 developmental biology, MSH3, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030220 oncology & carcinogenesis, Female, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, lcsh:Medicine (General)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0529634a2334ae4526499f553a1668Test
https://orca.cardiff.ac.uk/id/eprint/125434/3/1-s2.0-S2352396419306243-main.pdfTest

المؤلفون: Becanovic, K., Pouladi, M., Lim, R. S., Kuhn, A., Pavlidis, P., Luthi-Carter, R., Hayden, M.R., Leavitt, B.R.

مصطلحات موضوعية: Article

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/ddq018v1Test; http://dx.doi.org/10.1093/hmg/ddq018Test

الإتاحة: https://doi.org/10.1093/hmg/ddq018Test
http://hmg.oxfordjournals.org/cgi/content/short/ddq018v1Test

المؤلفون: Trundell, D., Palermo, G., Long, J.D., Leavitt, B.R., Schobel, S.A., Tabrizi, S.J.

المصدر: Journal of the Neurological Sciences ; volume 405, page 311 ; ISSN 0022-510X

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1016/j.jns.2019.10.1407Test
https://api.elsevier.com/content/article/PII:S0022510X19318817?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022510X19318817?httpAccept=text/plainTest

المؤلفون: Hagerman, R.J., Leavitt, B.R., Farzin, F., Jacquemont, S., Greco, C.M., Brunberg, J.A., Tassone, F., Hessl, D., Harris, S.W., Zhang, L., Jardini, T., Gane, L.W., Ferranti, J., Ruiz, L., Leehey, M.A., Grigsby, J., Hagerman, P.J.

المصدر: The American Journal of Human Genetics ; volume 74, issue 5, page 1051-1056 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/420700Test
https://api.elsevier.com/content/article/PII:S0002929707643699?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707643699?httpAccept=text/plainTest