Zobrazeno 21 - 30
of 197
pro vyhledávání: '"Manju A. Kurian"'
Publikováno v:
Spaull, R, Steel, D, Barwick, K, Prabhakar, P, Wakeling, E & Kurian, M A 2022, ' STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy ', Movement Disorders Clinical Practice, vol. 9, no. 6, pp. 837-840 . https://doi.org/10.1002/mdc3.13509
Autor:
Apostolos, Papandreou, Ivan, Doykov, Justyna, Spiewak, Nikita, Komarov, Stephanie, Habermann, Manju A, Kurian, Philippa B, Mills, Kevin, Mills, Paul, Gissen, Wendy E, Heywood
Publikováno v:
Developmental Medicine & Child Neurology. 64:1539-1546
Using Niemann-Pick type C disease (NPC) as a paradigm, we aimed to improve biomarker discovery in patients with neurometabolic disorders.Using a multiplexed liquid chromatography tandem mass spectrometry dried bloodspot assay, we developed a selectiv
Publikováno v:
Movement Disorders.
Autor:
Dora Steel, Aikaterini Vezyroglou, Katy Barwick, Martin Smith, Julie Vogt, Frances M. Gibbon, J. Helen Cross, Manju A. Kurian
Publikováno v:
Movement Disorders. 38:155-157
Autor:
Sunwoo Lee, Eguzkine Ochoa, Katy Barwick, Laura Cif, Fay Rodger, France Docquier, Belén Pérez-Dueñas, Graeme Clark, Ezequiel Martin, Siddharth Banka, Manju A Kurian, Eamonn R Maher
Publikováno v:
Lee, S, Ochoa, E, Barwick, K, Cif, L, Rodger, F, Docquier, F, Pérez-Dueñas, B, Clark, G, Martin, E, Banka, S, Kurian, M A & Maher, E R 2022, ' Comparison of methylation episignatures in KMT2B-and KMT2D-related human disorders ', Epigenomics, vol. 14, no. 9, pp. 537-547 . https://doi.org/10.2217/epi-2021-0521
Funder: Rosetrees Trust
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-bas
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-bas
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
Autor:
Lisette H. Koens, Marrit R. Klamer, Deborah A. Sival, Bettina Balint, Kailash P. Bhatia, Maria Fiorella Contarino, Martje E. van Egmond, Roberto Erro, Jennifer Friedman, Victor S.C. Fung, Christos Ganos, Manju A. Kurian, Anthony E. Lang, Eavan M. McGovern, Emmanuel Roze, Tom J. de Koning, Marina A.J. Tijssen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd85fe9605cbf552b84f733416df2465
https://hdl.handle.net/11386/4828792
https://hdl.handle.net/11386/4828792
Autor:
Anne Weissbach, Martje G. Pauly, Rebecca Herzog, Lisa Hahn, Sara Halmans, Feline Hamami, Christina Bolte, Sarah Camargos, Beomseok Jeon, Manju A. Kurian, Thomas Opladen, Norbert Brüggemann, Hans‐Jürgen Huppertz, Inke R. König, Christine Klein, Katja Lohmann
Publikováno v:
Movement Disorders. 37:237-252
Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- and
Publikováno v:
The Lancet Neurology. 20:956-968
Manganese is an essential trace metal. The dysregulation of manganese seen in a broad spectrum of neurological disorders reflects its importance in brain development and key neurophysiological processes. Historically, the observation of acquired mang
Autor:
Sandhya Kortagere, Maarten E. A. Reith, Zhicheng Lin, Hui Sun, Aurelio Galli, Corinde E. Wiers, Nora D. Volkow, Manju A. Kurian
Publikováno v:
Molecular Psychiatry. 27:1031-1046
The human dopamine transporter gene SLC6A3 has been consistently implicated in several neuropsychiatric diseases but the disease mechanism remains elusive. In this risk synthesis, we have concluded that SLC6A3 represents an increasingly recognized ri
Autor:
David A. Koolen, Yue Si, Benjamin Cogné, Pamela Trapane, Eric W. Klee, Manju A. Kurian, Miel Theunis, Eva Morava, Shekeeb S. Mohammad, Oguz Kanca, Matthew J. Moulton, Paulien A Terhal, Peggy Kulch, Queenie K.-G. Tan, An-Chi Tien, Shenzhao Lu, Erica L. Macke, Hugo J. Bellen, Katy Barwick, Bryan E. Hainline, Russell C. Dale, Lindsey D. Goodman, Katherine Sapp, Hermine E. Veenstra-Knol, Eric Legius, Amber Begtrup, Dora Steel, D. Dutta, Victoria H. Klee, Christopher J. Spencer, Bethany Robinette, Ellen van Binsbergen, Michael F. Wangler, Laurence E. Walsh, Shinya Yamamoto, Thomas A. Ravenscroft, Brian Kirmse, Bertrand Isidor, Marijke R. Wevers, Zelha Nil, Heidi Cope, Theresa A. Grebe, Melissa Jones, Wu Lin Charng, Rolph Pfundt, Jolien S. Klein Wassink-Ruiter, Charlotte A. Haaxma
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented wit