يعرض 1 - 10 نتائج من 72 نتيجة بحث عن '"Kennerson M."', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

    المؤلفون: Perez-Siles, G., Ellis, M., Ashe, A., Grosz, B., Vucic, S., Kiernan, M. C., Morris, K. A., Reddel, S. W., Kennerson, M. L.

    المصدر: Frontiers in Genetics ; volume 12 ; ISSN 1664-8021

    مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

    الإتاحة: https://doi.org/10.3389/fgene.2021.801253Test

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  2. 2
    دورية أكاديمية
    Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

    المؤلفون: Sancho, P, Bartesaghi, L, Miossec, O, Garcia-Garcia, F, Ramirez-Jimenez, L, Siddell, A, Akesson, E, Hedlund, E, Lassuthova, P, Pascual-Pascual, SI, Sevilla, T, Kennerson, M, Lupo, V, Chrast, R, Espinos, C

    المصدر: Human molecular genetics. 28(10):1629-1644

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141392949Test

    النص الكامل

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  3. 3
    دورية أكاديمية
    RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

    المؤلفون: Kumar, KR, Cortese, A, Tomlinson, SE, Efthymiou, S, Ellis, M, Zhu, D, Stoll, M, Dominik, N, Tisch, S, Tchan, M, Wu, KHC, Devery, S, Spring, PJ, Hawke, S, Cremer, P, Ng, K, Reilly, MM, Nicholson, GA, Houlden, H, Kennerson, M

    المصدر: Brain , 143 (10) , Article e82. (2020)

    وصف الملف: text

    العلاقة: https://discovery.ucl.ac.uk/id/eprint/10112342/1/Cortese_CANVAS_Letter_KRK.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10112342Test/

    الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10112342/1/Cortese_CANVAS_Letter_KRK.pdfTest
    https://discovery.ucl.ac.uk/id/eprint/10112342Test/

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  4. 4
    دورية أكاديمية
    Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

    المؤلفون: Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, Eppie M., Ryan, Monique M., Choi, B. O., Nicholson, G., Kennerson, M. L.

    المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

    مصطلحات موضوعية: Multidisciplinary

    الإتاحة: https://doi.org/10.1038/s41598-020-66266-5Test
    https://www.nature.com/articles/s41598-020-66266-5.pdfTest
    https://www.nature.com/articles/s41598-020-66266-5Test

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  5. 5
    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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  6. 6
    دورية أكاديمية
    Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

    المؤلفون: Farrar, MA, brewer, M, Chaudhry, R, Qi, J, Kidambi, A, Drew, A, Menezes, M, Ryan, M, Mowat, D, Subramanian, G, Young, H, Zuchner, S, Reddel, S, Nicholson, G, Kennerson, M

    المساهمون: Girirajan, Santhosh

    المصدر: urn:ISSN:1553-7404 ; PLoS Genetics, 12, 7, e1006177

    مصطلحات موضوعية: Rare Diseases, Peripheral Neuropathy, Human Genome, Neurodegenerative, Genetics, Charcot-Marie-Tooth Disease, Neurosciences, Pain Research, 2 Aetiology, 2.1 Biological and endogenous factors, Chromosome Mapping, Chromosomes, Human, Pair 8, Computational Biology, DNA Mutational Analysis, Exome, Gene Expression Regulation, Genome, Genotype, Haplotypes, Humans, Male, Mutagenesis, Insertional, Mutation, anzsrc-for: 110904 Neurology and Neuromuscular Diseases, anzsrc-for: 110311 Medical Genetics (excl. Cancer Genetics), anzsrc-for: 111403 Paediatrics

    وصف الملف: application/pdf

    العلاقة: http://hdl.handle.net/1959.4/unsworks_40664Test; https://unsworks.unsw.edu.au/bitstreams/0d7eabcd-117e-44a8-a27c-c87b5ab0282d/downloadTest; https://doi.org/10.1371/journal.pgen.1006177Test

    الإتاحة: https://doi.org/10.1371/journal.pgen.1006177Test
    http://hdl.handle.net/1959.4/unsworks_40664Test
    https://unsworks.unsw.edu.au/bitstreams/0d7eabcd-117e-44a8-a27c-c87b5ab0282d/downloadTest

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  7. 7
    دورية أكاديمية
    RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

    المؤلفون: Kumar K. R., Cortese A., Tomlinson S. E., Efthymiou S., Ellis M., Zhu D., Stoll M., Dominik N., Tisch S., Tchan M., Wu K. H. C., Devery S., Spring P. J., Hawke S., Cremer P., Ng K., Reilly M. M., Nicholson G. A., Houlden H., Kennerson M.

    المساهمون: Kumar, K. R., Cortese, A., Tomlinson, S. E., Efthymiou, S., Ellis, M., Zhu, D., Stoll, M., Dominik, N., Tisch, S., Tchan, M., Wu, K. H. C., Devery, S., Spring, P. J., Hawke, S., Cremer, P., Ng, K., Reilly, M. M., Nicholson, G. A., Houlden, H., Kennerson, M.

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32949124; info:eu-repo/semantics/altIdentifier/wos/WOS:000607101500003; volume:143; issue:10; firstpage:e82; lastpage:e82; journal:BRAIN; http://hdl.handle.net/11571/1352215Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85094684292; https://academic.oup.com/brain/article/143/10/e82/5908802Test

    الإتاحة: https://doi.org/10.1093/brain/awaa244Test
    http://hdl.handle.net/11571/1352215Test
    https://academic.oup.com/brain/article/143/10/e82/5908802Test

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  8. 8
    دورية أكاديمية
    Energy metabolism and mitochondrial defects in patient iPSC-derived motor neurons with the CMTX6-causative PDK3 mutation

    المؤلفون: Siles, GP, Cutrupi, A, Uesugi, M, Choi, B-O, Ryan, M, Kennerson, M

    المصدر: Virtual Conference of Peripheral-Nerve-Society

    العلاقة: Siles, G. P., Cutrupi, A., Uesugi, M., Choi, B. -O., Ryan, M. & Kennerson, M. (2020). Energy metabolism and mitochondrial defects in patient iPSC-derived motor neurons with the CMTX6-causative PDK3 mutation. [Abstract]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 25 (4), pp.461-461. https://doi.org/10.1111/jns.12416Test.; http://hdl.handle.net/11343/278754Test

    الإتاحة: https://doi.org/10.1111/jns.12416Test
    http://hdl.handle.net/11343/278754Test

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  9. 9
    دورية أكاديمية
    A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

    المؤلفون: Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S.-C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Zuchner, S., Ryan, M. M., Nicholson, G. A.

    المصدر: Human Molecular Genetics ; volume 22, issue 7, page 1404-1416 ; ISSN 0964-6906 1460-2083

    مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

    الإتاحة: https://doi.org/10.1093/hmg/dds557Test
    http://academic.oup.com/hmg/article-pdf/22/7/1404/13929038/dds557.pdfTest

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  10. 10
    دورية أكاديمية
    Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

    المؤلفون: Rinaldi C., Grunseich C., Sevrioukova I. F., Schindler A., Horkayne-Szakaly I., Lamperti C., Landoure G., Kennerson M. L., Burnett B. G., Bonnemann C., Biesecker L. G., Ghezzi D., Zeviani M., Fischbeck K. H.

    المساهمون: C. Rinaldi, C. Grunseich, I.F. Sevrioukova, A. Schindler, I. Horkayne-Szakaly, C. Lamperti, G. Landoure, M.L. Kennerson, B.G. Burnett, C. Bonnemann, L.G. Biesecker, D. Ghezzi, M. Zeviani, K.H. Fischbeck

    مصطلحات موضوعية: Marie-tooth-disease, motor-sensory neuropathy, mental-retardation, cell-death, factor AIF, deafness, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23217327; info:eu-repo/semantics/altIdentifier/wos/WOS:000312417400013; volume:91; issue:6; firstpage:1095; lastpage:1102; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/781174Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870926172

    الإتاحة: https://doi.org/10.1016/j.ajhg.2012.10.008Test
    http://hdl.handle.net/2434/781174Test

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