Search Results - Kennerson, Marina

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  1. 1
    Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome

    Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome by Boyling, Alexandra, Perez-Siles, Gonzalo, Kennerson, Marina L.

    Published 2022
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  2. 2
    The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

    The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family by Albulym, Obaid M., Zhu, Danqing, Reddel, Stephen, Kennerson, Marina, Nicholson, Garth

    Published 2013
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  3. 3
    Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

    Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation by Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.

    Published 2018
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  4. 4
    Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

    Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region by Brewer, Megan, Changi, Febriani, Antonellis, Anthony, Fischbeck, Kurt, Polly, Patsie, Nicholson, Garth, Kennerson, Marina

    Published 2008
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  5. 5
    Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1

    Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1 by Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.

    Published 2021
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  6. 6
    RE-ANALYSIS OF AN ORIGINAL CMTX3 FAMILY USING EXOME SEQUENCING IDENTIFIES A KNOWN BSCL2 MUTATION

    RE-ANALYSIS OF AN ORIGINAL CMTX3 FAMILY USING EXOME SEQUENCING IDENTIFIES A KNOWN BSCL2 MUTATION by CHAUDHRY, RABIA, KIDAMBI, ADITI, BREWER, MEGAN HWA, ANTONELLIS, ANTHONY, MATHEWS, KATHERINE, NICHOLSON, GARTH, KENNERSON, MARINA

    Published 2013
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  7. 7
    Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

    Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy by Yi, Ling, Donsante, Anthony, Kennerson, Marina L., Mercer, Julian F.B., Garbern, James Y., Kaler, Stephen G.

    Published 2012
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  8. 8
    A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

    A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy) by Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.

    Published 2019
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  9. 9
    YB-1 Knockdown Inhibits the Proliferation of Mesothelioma Cells through Multiple Mechanisms

    YB-1 Knockdown Inhibits the Proliferation of Mesothelioma Cells through Multiple Mechanisms by Johnson, Thomas G., Schelch, Karin, Lai, Kaitao, Marzec, Kamila A., Kennerson, Marina, Grusch, Michael, Reid, Glen, Burgess, Andrew

    Published 2020
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  10. 10
    Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

    Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis by Carroll, Antonia, Dyck, P James, de Carvalho, Mamede, Kennerson, Marina, Reilly, Mary M, Kiernan, Matthew C, Vucic, Steve

    Published 2022
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  11. 11
    Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

    Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing by Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L

    Published 2015
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  12. 12
    Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model

    Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMT... by Narayanan, Ramesh K, Brewer, Megan H, Perez-Siles, Gonzalo, Ellis, Melina, Ly, Carolyn, Burgess, Andrew, Neumann, Brent, Nicholson, Garth A, Vucic, Steve, Kennerson, Marina L

    Published 2021
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  13. 13
    Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

    Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs by Perez-Siles, Gonzalo, Cutrupi, Anthony, Ellis, Melina, Kuriakose, Jakob, La Fontaine, Sharon, Mao, Di, Uesugi, Motonari, Takata, Reinaldo I., Speck-Martins, Carlos E., Nicholson, Garth, Kennerson, Marina L.

    Published 2020
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  14. 14
    Determinants of Serum-Induced SIRT1 Expression in Older Men: The CHAMP Study

    Determinants of Serum-Induced SIRT1 Expression in Older Men: The CHAMP Study by Le Couteur, David G., Benson, Vicky L., McMahon, Aisling C., Blyth, Fiona, Handelsman, David J., Seibel, Markus J., Kennerson, Marina, Naganathan, Vasi, Cumming, Robert G., de Cabo, Rafael

    Published 2011
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  15. 15
    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

    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 by Kennerson, Marina L., Yiu, Eppie M., Chuang, David T., Kidambi, Aditi, Tso, Shih-Chia, Ly, Carolyn, Chaudhry, Rabia, Drew, Alexander P., Rance, Gary, Delatycki, Martin B., Züchner, Stephan, Ryan, Monique M., Nicholson, Garth A.

    Published 2013
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  16. 16
    MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With Pyramidal Signs

    MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With Pyramidal Signs by Albulym, Obaid M., Kennerson, Marina L., Harms, Matthew B., Drew, Alexander P., Siddell, Anna H., Auer-Grumbach, Michaela, Pestronk, Alan, Connolly, Anne, Baloh, Robert H., Zuchner, Stephan, Reddel, Stephen W., Nicholson, Garth A.

    Published 2016
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  17. 17
    Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

    Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor by Rinaldi, Carlo, Grunseich, Christopher, Sevrioukova, Irina F., Schindler, Alice, Horkayne-Szakaly, Iren, Lamperti, Costanza, Landouré, Guida, Kennerson, Marina L., Burnett, Barrington G., Bönnemann, Carsten, Biesecker, Leslie G., Ghezzi, Daniele, Zeviani, Massimo, Fischbeck, Kenneth H.

    Published 2012
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  18. 18
    A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

    A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by McLaughlin, Heather M., Sakaguchi, Reiko, Giblin, William, Wilson, Thomas E., Biesecker, Leslie, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Lee, Yi-Chung, Kennerson, Marina, Hou, Ya-Ming, Nicholson, Garth, Antonellis, Anthony

    Published 2011
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  19. 19
    A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

    A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing by Grosz, Bianca R., Tisch, Stephen, Tchan, Michel C., Fung, Victor S. C., Darveniza, Paul, Fellner, Avi, Kurian, Manju A., McLean, Alison, Tomlinson, Susan E., Smyth, Renee, Devery, Sophie, Wu, Kathy H. C., Kennerson, Marina L., Kumar, Kishore R.

    Published 2022
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  20. 20
    SIRT1 Polymorphisms and Serum-Induced SIRT1 Protein Expression in Aging and Frailty: The CHAMP Study

    SIRT1 Polymorphisms and Serum-Induced SIRT1 Protein Expression in Aging and Frailty: The CHAMP Study by Razi, Shajjia, Cogger, Victoria C., Kennerson, Marina, Benson, Vicky L., McMahon, Aisling C., Blyth, Fiona M., Handelsman, David J., Seibel, Markus J., Hirani, Vasant, Naganathan, Vasikaran, Waite, Louise, de Cabo, Rafael, Cumming, Robert G., Le Couteur, David G.

    Published 2017
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