Julien Ochala

Julien Ochala

Associate Professor - Promotion Programme

Member of:

    ORCID: 0000-0002-6358-2920

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    31 - 40 out of 91Page size: 10
    1. 2020

    2. Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

      Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., Van Der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, Julien, Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In: Acta Neuropathologica Communications. 8, 1, 18.

      Research output: Contribution to journal › Journal article › Research › peer-review

    3. Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to Dynamin

      Massana Muñoz, X., Kretz, C., Silva-Rojas, R., Ochala, Julien, Menuet, A., Romero, N. B., Cowling, B. S. & Laporte, J., 18 Aug 2020, In: JCI insight. 5, 18, 16 p., e137899.

      Research output: Contribution to journal › Journal article › Research › peer-review

    4. Published

      rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

      Ross, J. A., Tasfaout, H., Levy, Y., Morgan, J., Cowling, B. S., Laporte, J., Zanoteli, E., Romero, N. B., Lowe, D. A., Jungbluth, H., Lawlor, M. W., Mack, D. L. & Ochala, Julien, 19 Oct 2020, In: Acta Neuropathologica Communications. 8, 1, 167.

      Research output: Contribution to journal › Journal article › Research › peer-review

    5. Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy

      Williams, Z. J., Velez-Irizarry, D., Petersen, J. L., Ochala, Julien, Finno, C. J. & Valberg, S. J., 2020, (Accepted/In press) In: Equine Veterinary Journal.

      Research output: Contribution to journal › Journal article › Research › peer-review

    6. 2019

    7. Effect of PGC1-beta ablation on myonuclear organisation

      Beedour, R., Ross, J. A., Levy, Y. & Ochala, Julien, 1 Dec 2019, In: Journal of Muscle Research and Cell Motility. 40, 3-4, p. 335-341 7 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    8. Published

      Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

      Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E. & 3 others, Hardeman, E. C., Wallgren-Pettersson, C. & Ochala, Julien, 2019, In: Acta Neuropathologica. 138, 3, p. 477-495 19 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    9. 2018

    10. Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

      Buono, S., Ross, J. A., Tasfaout, H., Levy, Y., Kretz, C., Tayefeh, L., Matson, J., Guo, S., Kessler, P., Monia, B. P., Bitoun, M., Ochala, Julien, Laporte, J. & Cowling, B. S., 23 Oct 2018, In: Proceedings of the National Academy of Sciences of the United States of America. 115, 43, p. 11066-11071 6 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    11. Molecular consequences of the myopathy-related D286G mutation on actin function

      Fan, J., Chan, C., McNamara, E. L., Nowak, K. J., Iwamoto, H. & Ochala, Julien, 1 Dec 2018, In: Frontiers in Physiology. 9, 1756.

      Research output: Contribution to journal › Journal article › Research › peer-review

    12. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

      Jungbluth, H., Treves, S., Zorzato, F., Sarkozy, A., Ochala, Julien, Sewry, C., Phadke, R., Gautel, M. & Muntoni, F., Mar 2018, In: Nature Reviews. Neurology. 14, 3, p. 151-167 17 p.

      Research output: Contribution to journal › Review › Research › peer-review

    13. Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness

      Levy, Y., Ross, J. A., Niglas, M., Snetkov, V. A., Lynham, S., Liao, C., Puckelwartz, M. J., Hsu, Y., McNally, E. M., Alsheimer, M., Harridge, S. D., Young, S. G., Fong, L. G., Español, Y., Lopez-Otin, C., Kennedy, B. K., Lowe, D. A. & Ochala, Julien, 4 Oct 2018, In: JCI insight. 3, 19

      Research output: Contribution to journal › Journal article › Research › peer-review

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    ID: 240294914