المؤلفون: Lee, RG, Balasubramaniam, S, Stentenbach, M, Kralj, T, McCubbin, T, Padman, B, Smith, J, Riley, LG, Priyadarshi, A, Peng, L, Nuske, MR, Webster, R, Peacock, K, Roberts, P, Stark, Z, Lemire, G, Ito, YA, Boycott, KM, Geraghty, MT, Klinken, JB, Ferdinandusse, S, Zhou, Y, Walsh, R, Marcellin, E, Thorburn, DR, Rosciolli, T, Fletcher, J, Rackham, O, Vaz, FM, Reid, GE, Filipovska, A

العلاقة: pii: 6526744; Lee, R. G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L. G., Priyadarshi, A., Peng, L., Nuske, M. R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y. A., Boycott, K. M., Geraghty, M. T. ,. Filipovska, A. (2022). Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. HUMAN MOLECULAR GENETICS, 31 (21), pp.3597-3612. https://doi.org/10.1093/hmg/ddac040Test.; http://hdl.handle.net/11343/333188Test

الإتاحة: https://doi.org/10.1093/hmg/ddac040Test
http://hdl.handle.net/11343/333188Test

المؤلفون: Zech, M, Kumar, KR, Reining, S, Reunert, J, Tchan, M, Riley, LG, Drew, AP, Adam, RJ, Berutti, R, Biskup, S, Derive, N, Bakhtiari, S, Jin, SC, Kruer, MC, Bardakjian, T, Gonzalez-Alegre, P, Keller Sarmiento, IJ, Mencacci, NE, Lubbe, SJ, Kurian, MA, Clot, F, Méneret, A, de Sainte Agathe, J-M, Fung, VSC, Vidailhet, M, Baumann, M, Marquardt, T, Winkelmann, J, Boesch, S

المصدر: Movement Disorders (2021) (In press).

مصطلحات موضوعية: AOPEP, genomic analysis, loss-of-function variants, monogenic dystonia, rare disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135960Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135960Test/

المؤلفون: Rius, R, Van Bergen, NJ, Compton, AG, Riley, LG, Kava, MP, Balasubramaniam, S, Amor, DJ, Fanjul-Fernandez, M, Cowley, MJ, Fahey, MC, Koenig, MK, Enns, GM, Sadedin, S, Wilson, MJ, Tan, TY, Thorburn, DR, Christodoulou, J

العلاقة: pii: jcm8112020; Rius, R., Van Bergen, N. J., Compton, A. G., Riley, L. G., Kava, M. P., Balasubramaniam, S., Amor, D. J., Fanjul-Fernandez, M., Cowley, M. J., Fahey, M. C., Koenig, M. K., Enns, G. M., Sadedin, S., Wilson, M. J., Tan, T. Y., Thorburn, D. R. & Christodoulou, J. (2019). Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Journal of Clinical Medicine, 8 (11), https://doi.org/10.3390/jcm8112020Test.; http://hdl.handle.net/11343/240623Test

الإتاحة: https://doi.org/10.3390/jcm8112020Test
http://hdl.handle.net/11343/240623Test

المؤلفون: Riley, LG, Heeney, MM, Rudinger-Thirion, J, Frugier, M, Campagna, DR, Zhou, R, Hale, GA, Hilliard, LM, Kaplan, JA, Kwiatkowski, JL, Sieff, CA, Steensma, DP, Rennings, AJ, Simons, A, Schaap, N, Roodenburg, RJ, Kleefstra, T, Arenillas, L, Fita-Torro, J, Ahmed, R, Abboud, M, Bechara, E, Farah, R, Tamminga, RYJ, Bottomley, SS, Sanchez, M, Huls, G, Swinkels, DW, Christodoulou, J, Fleming, MD

العلاقة: pii: haematol.2017.182659; Riley, L. G., Heeney, M. M., Rudinger-Thirion, J., Frugier, M., Campagna, D. R., Zhou, R., Hale, G. A., Hilliard, L. M., Kaplan, J. A., Kwiatkowski, J. L., Sieff, C. A., Steensma, D. P., Rennings, A. J., Simons, A., Schaap, N., Roodenburg, R. J., Kleefstra, T., Arenillas, L., Fita-Torro, J. ,. Fleming, M. D. (2018). The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. HAEMATOLOGICA, 103 (12), pp.2008-2015. https://doi.org/10.3324/haematol.2017.182659Test.; http://hdl.handle.net/11343/221865Test

الإتاحة: https://doi.org/10.3324/haematol.2017.182659Test
http://hdl.handle.net/11343/221865Test

المؤلفون: Nafisinia, M, Riley, LG, Gold, WA, Bhattacharya, K, Broderick, CR, Thorburn, DR, Simons, C, Christodoulou, J

المساهمون: Reddy, Hemachandra

المصدر: urn:ISSN:1932-6203 ; PLoS ONE, 12, 6, e0178125

مصطلحات موضوعية: Genetics, Rare Diseases, Charcot-Marie-Tooth Disease, Neurosciences, 2.1 Biological and endogenous factors, 2 Aetiology, Adolescent, Base Sequence, Cells, Cultured, Child, Computer Simulation, Conserved Sequence, Electron Transport, Female, Fibroblasts, Glycine-tRNA Ligase, Heterozygote, Humans, Immunoblotting, Liver, Mitochondria, Muscle, Skeletal, Mutation, Phenotype, Sequence Analysis, DNA, Spectrophotometry

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_53985Test; https://unsworks.unsw.edu.au/bitstreams/81e5e2d9-a6d6-4251-a812-14180ae53e8d/downloadTest; https://doi.org/10.1371/journal.pone.0178125Test

الإتاحة: https://doi.org/10.1371/journal.pone.0178125Test
http://hdl.handle.net/1959.4/unsworks_53985Test
https://unsworks.unsw.edu.au/bitstreams/81e5e2d9-a6d6-4251-a812-14180ae53e8d/downloadTest

المؤلفون: Miller, DK, Menezes, MJ, Simons, C, Riley, LG, Cooper, ST, Grimmond, SM, Thorburn, DR, Christodoulou, J, Taft, RJ

المساهمون: Whitworth, AJ

العلاقة: pii: PONE-D-14-00648; Miller, D. K., Menezes, M. J., Simons, C., Riley, L. G., Cooper, S. T., Grimmond, S. M., Thorburn, D. R., Christodoulou, J. & Taft, R. J. (2014). Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient. PLOS ONE, 9 (8), https://doi.org/10.1371/journal.pone.0104879Test.; http://hdl.handle.net/11343/55275Test

الإتاحة: https://doi.org/10.1371/journal.pone.0104879Test
http://hdl.handle.net/11343/55275Test

المؤلفون: Riley, LG, Rudinger-Thirion, J, Frugier, M, Wilson, M, Luig, M, Alahakoon, TI, Nixon, CY, Kirk, EP, Roscioli, T, Lunke, S, Stark, Z, Wierenga, KJ, Palle, S, Walsh, M, Higgs, E, Arbuckle, S, Thirukeswaran, S, Compton, AG, Thorburn, DR, Christodoulou, J

العلاقة: Riley, L. G., Rudinger-Thirion, J., Frugier, M., Wilson, M., Luig, M., Alahakoon, T. I., Nixon, C. Y., Kirk, E. P., Roscioli, T., Lunke, S., Stark, Z., Wierenga, K. J., Palle, S., Walsh, M., Higgs, E., Arbuckle, S., Thirukeswaran, S., Compton, A. G., Thorburn, D. R. & Christodoulou, J. (2020). The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. HUMAN MUTATION, 41 (8), pp.1425-1434. https://doi.org/10.1002/humu.24050Test.; http://hdl.handle.net/11343/276061Test

الإتاحة: https://doi.org/10.1002/humu.24050Test
http://hdl.handle.net/11343/276061Test

المؤلفون: Riley, LG, Menezes, MJ, Rudinger-Thirion, J, Duff, R, de Lonlay, P, Rotig, A, Tchan, MC, Davis, M, Cooper, ST, Christodoulou, J

العلاقة: pii: 1750-1172-8-193; Riley, L. G., Menezes, M. J., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M. C., Davis, M., Cooper, S. T. & Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. ORPHANET JOURNAL OF RARE DISEASES, 8 (1), https://doi.org/10.1186/1750-1172-8-193Test.; http://hdl.handle.net/11343/213973Test

الإتاحة: https://doi.org/10.1186/1750-1172-8-193Test
http://hdl.handle.net/11343/213973Test

المؤلفون: Kaiya, H, Kojima, M, Hosoda, H, Riley, LG, Hirano, T, Grau, EG, Kangawa, K

المصدر: Journal of Endocrinology ; volume 176, issue 3, page 415-423 ; ISSN 0022-0795 1479-6805

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1677/joe.0.1760415Test
https://joe.bioscientifica.com/view/journals/joe/176/3/415.xmlTest
https://joe.bioscientifica.com/downloadpdf/journals/joe/176/3/415.xmlTest

المؤلفون: Gold, WA, Sobreira, N, Wiame, E, Marbaix, A, Van Schaftingen, E, Franzka, P, Riley, LG, Worgan, L, Huebner, CA, Christodoulou, J, Ades, LC

العلاقة: Gold, W. A., Sobreira, N., Wiame, E., Marbaix, A., Van Schaftingen, E., Franzka, P., Riley, L. G., Worgan, L., Huebner, C. A., Christodoulou, J. & Ades, L. C. (2017). A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173 (8), pp.2246-2250. https://doi.org/10.1002/ajmg.a.38292Test.; http://hdl.handle.net/11343/292993Test

الإتاحة: https://doi.org/10.1002/ajmg.a.38292Test
http://hdl.handle.net/11343/292993Test