يعرض 1 - 10 نتائج من 160 نتيجة بحث عن '"Laing N. G."', وقت الاستعلام: 1.40s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Bi-allelic mutations in MYL1 cause a severe congenital myopathy

    المؤلفون: Ravenscroft G., Zaharieva I. T., Bortolotti C. A., Lambrughi M., Pignataro M., Borsari M., Sewry C. A., Phadke R., Haliloglu G., Ong R., Goullee H., Whyte T., Consortium U. K., Manzur A., Talim B., Kaya U., Osborn D. P. S., Forrest A. R. R., Laing N. G., Muntoni F.

    المساهمون: Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullee, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G., Muntoni, F.

    مصطلحات موضوعية: Allele, Animal, Consanguinity, Disease Models, Exome, Homozygote, Human, Male, Muscle, Skeletal, Mutation, Myosin Heavy Chain, Myosin Light Chain, Myotonia Congenita, Pedigree, Zebrafish

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30215711; info:eu-repo/semantics/altIdentifier/wos/WOS:000452536700008; volume:27; issue:24; firstpage:4263; lastpage:4272; numberofpages:10; journal:HUMAN MOLECULAR GENETICS ONLINE; http://hdl.handle.net/11380/1203764Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85059478394

    الإتاحة: https://doi.org/10.1093/hmg/ddy320Test
    http://hdl.handle.net/11380/1203764Test

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  2. 2
    دورية أكاديمية
    Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

    المؤلفون: Servián Morilla, Emilia, Cabrera Serrano, Macarena, Carvajal, A., Lamont, P.J., Pelayo Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J.M, Fletcher, S., Adams, A. M., Fernández García, M. A., Nieto González, José Luis, Laing, N. G., Rivas, Eloy, Mavillard Saborido, Fabiola, Paradas, Carmen

    المساهمون: Instituto de Biomedicina de Sevilla (IBIS)

    مصطلحات موضوعية: Muscle dystrophy, TRIM32, E3 ubiquitin -ligase, Proliferation/differentiation, Autophagy

    العلاقة: PI16-01843; JR15/00042; PI-0085-2016; APP1122952; APP1117510; https://doi.org/10.1186/s40478-019-0683-9Test; https://idus.us.es/handle//11441/86807Test

    الإتاحة: https://doi.org/10.1186/s40478-019-0683-9Test
    https://idus.us.es/handle//11441/86807Test

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  3. 3
    دورية أكاديمية
    Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

    المؤلفون: Servián-Morilla, E, Cabrera-Serrano, M, Rivas-Infante, E, Carvajal, A, Lamont, P J, Pelayo-Negro, A L, Ravenscroft, G, Junckerstorff, R, Dyke, J M, Fletcher, S, Adams, A M, Mavillard, F, Fernández-García, M A, Nieto-González, J L, Laing, N G, Paradas, C

    مصطلحات موضوعية: Autophagy, E3 ubiquitin -ligase, Muscle dystrophy, Proliferation/differentiation, TRIM32, Adult, Aged, Cells, Cultured, Cellular Senescence, Female, Humans, Male, Middle Aged, Muscle Development, Muscular Diseases, Myoblasts, Pedigree, Transcription Factors, Tripartite Motif Proteins, Ubiquitin-Protein Ligases

    وصف الملف: application/pdf

    العلاقة: http://hdl.handle.net/10668/13648Test; PMC6396567; https://doi.org/10.1186/s40478-019-0683-9Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396567/pdfTest

    الإتاحة: https://doi.org/10.1186/s40478-019-0683-9Test
    http://hdl.handle.net/10668/13648Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396567/pdfTest

    View record in BASE النص الكامل

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  4. 4
    دورية أكاديمية
    Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

    المؤلفون: Stevanovski I., Chintalaphani S. R., Gamaarachchi H., Ferguson J. M., Pineda S. S., Scriba C. K., Tchan M., Fung V., Ng K., Cortese A., Houlden H., Dobson-Stone C., Fitzpatrick L., Halliday G., Ravenscroft G., Davis M. R., Laing N. G., Fellner A., Kennerson M., Kumar K. R., Deveson I. W.

    المساهمون: Stevanovski, I., Chintalaphani, S. R., Gamaarachchi, H., Ferguson, J. M., Pineda, S. S., Scriba, C. K., Tchan, M., Fung, V., Ng, K., Cortese, A., Houlden, H., Dobson-Stone, C., Fitzpatrick, L., Halliday, G., Ravenscroft, G., Davis, M. R., Laing, N. G., Fellner, A., Kennerson, M., Kumar, K. R., Deveson, I. W.

    مصطلحات موضوعية: DNA, Copy Number Variation, Whole Genome Sequencing

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35245110; info:eu-repo/semantics/altIdentifier/wos/WOS:000790020300018; volume:8; issue:9; firstpage:eabm5386; journal:SCIENCE ADVANCES; http://hdl.handle.net/11571/1452247Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125804052

    الإتاحة: https://doi.org/10.1126/sciadv.abm5386Test
    http://hdl.handle.net/11571/1452247Test

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  5. 5
    دورية
    Identifying the genetic cause of an internationally unique, naturally occurring muscular dystrophy in Western Australian Merino sheep

    المؤلفون: Supreme, J, Laing, N G, Carter, K, Nowak, K

    المساهمون: BioStor

    المصدر: 96:73-73

    الوصول الحر: https://www.biodiversitylibrary.org/part/298960Test

    View record in Biodiversity Heritage Library

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  6. 6
    Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

    المؤلفون: Sedghi, M., Moslemi, Ali-Reza, Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, Leila, Mianesaz, H. R., Laing, N. G., Tajsharghi, H.

    المصدر: Annals of Clinical and Translational Neurology. 6(11):2197-2204

    مصطلحات موضوعية: Neurology, Neurologi

    الوصول الحر: https://gup.ub.gu.se/publication/289812Test


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  7. 7
    دورية أكاديمية
    A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

    المؤلفون: Beecroft S. J., Cortese A., Sullivan R., Yau W. Y., Dyer Z., Wu T. Y., Mulroy E., Pelosi L., Rodrigues M., Taylor R., Mossman S., Leadbetter R., Cleland J., Anderson T., Ravenscroft G., Laing N. G., Houlden H., Reilly M. M., Roxburgh R. H.

    المساهمون: Beecroft, S. J., Cortese, A., Sullivan, R., Yau, W. Y., Dyer, Z., Wu, T. Y., Mulroy, E., Pelosi, L., Rodrigues, M., Taylor, R., Mossman, S., Leadbetter, R., Cleland, J., Anderson, T., Ravenscroft, G., Laing, N. G., Houlden, H., Reilly, M. M., Roxburgh, R. H.

    مصطلحات موضوعية: CANVAS, founder effect, Māori, repeat expansion, RFC1

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32851396; info:eu-repo/semantics/altIdentifier/wos/WOS:000607095300018; volume:143; issue:9; firstpage:2673; lastpage:2680; numberofpages:8; journal:BRAIN; http://hdl.handle.net/11571/1350626Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091323981; https://academic.oup.com/brain/article/143/9/2673/5897694Test

    الإتاحة: https://doi.org/10.1093/brain/awaa203Test
    http://hdl.handle.net/11571/1350626Test
    https://academic.oup.com/brain/article/143/9/2673/5897694Test

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  8. 8
    دورية أكاديمية
    A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

    المؤلفون: Scriba C. K., Beecroft S. J., Clayton J. S., Cortese A., Sullivan R., Yau W. Y., Dominik N., Rodrigues M., Walker E., Dyer Z., Wu T. Y., Davis M. R., Chandler D. C., Weisburd B., Houlden H., Reilly M. M., Laing N. G., Lamont P. J., Roxburgh R. H., Ravenscroft G.

    المساهمون: Scriba, C. K., Beecroft, S. J., Clayton, J. S., Cortese, A., Sullivan, R., Yau, W. Y., Dominik, N., Rodrigues, M., Walker, E., Dyer, Z., Wu, T. Y., Davis, M. R., Chandler, D. C., Weisburd, B., Houlden, H., Reilly, M. M., Laing, N. G., Lamont, P. J., Roxburgh, R. H., Ravenscroft, G.

    مصطلحات موضوعية: neuropathy, sensory neuropathy, cerebellar ataxia, vestibular areflexia syndrome, CANVAS, RFC1, repeat expansion

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33103729; info:eu-repo/semantics/altIdentifier/wos/WOS:000607101500017; volume:143; issue:10; firstpage:2904; lastpage:2910; numberofpages:7; journal:BRAIN; http://hdl.handle.net/11571/1352216Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85094643960; https://academic.oup.com/brain/article/143/10/2904/5939924Test

    الإتاحة: https://doi.org/10.1093/brain/awaa263Test
    http://hdl.handle.net/11571/1352216Test
    https://academic.oup.com/brain/article/143/10/2904/5939924Test

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  9. 9
    دورية أكاديمية
    Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy

    المؤلفون: Duff R. M., Tay V., Hackman P., Ravenscroft G., McLean C., Kennedy P., Steinbach A., Schöffler W., van der Ven P. F., Fürst D. O., Song J., Djinović-Carugo K., Penttilä S., Raheem O., Reardon K., Malandrini A., Gambelli S., Villanova M., Nowak K. J., Williams D. R., Landers J. E., Brown R. H. Jr, Udd B., Laing N. G.

    المساهمون: Duff, R. M., Tay, V., Hackman, P., Ravenscroft, G., Mclean, C., Kennedy, P., Steinbach, A., Schöffler, W., van der Ven, P. F., Fürst, D. O., Song, J., Djinović-Carugo, K., Penttilä, S., Raheem, O., Reardon, K., Malandrini, A., Gambelli, S., Villanova, M., Nowak, K. J., Williams, D. R., Landers, J. E., Brown R. H., Jr, Udd, B., Laing, N. G.

    مصطلحات موضوعية: GIRDLE MUSCULAR-DYSTROPHY, SKELETAL-MUSCLE, MYOFIBRILLAR MYOPATHY, LINKAGE ANALYSIS, F-ACTIN, ANDROGEN RECEPTOR, PROTEIN FILAMIN, ALPHA-ACTININ, KINASE GENE, Z-DISC

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21620354; info:eu-repo/semantics/altIdentifier/wos/WOS:000291768500005; volume:88; issue:6; firstpage:729; lastpage:740; numberofpages:12; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/32145Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79958825364; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113346/?tool=pubmedTest

    الإتاحة: https://doi.org/10.1016/j.ajhg.2011.04.021Test
    http://hdl.handle.net/11365/32145Test
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113346/?tool=pubmedTest

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  10. 10
    Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

    المؤلفون: Nilipour, Y., Nafissi, S., Tjust, Anton E., Ravenscroft, G., Hossein Nejad Nedai, H., Taylor, R. L., Varasteh, V., Pedrosa Domellöf, Fatima, Zangi, M., Tonekaboni, S. H., Olivé, M., Kiiski, K., Sagath, L., Davis, M. R., Laing, N. G., Tajsharghi, H.

    المصدر: European Journal of Neurology. 25(6):841-847

    مصطلحات موضوعية: RYR3, intracellular Ca2+ channels, nemaline myopathy, ryanodine receptors

    وصف الملف: print

    الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-146323Test


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