Novel genes in skeletal muscle disease

Forrest, Alistair (Investigator 01)
Ravenscroft, Gina (Investigator 02)
Bryson-Richardson, Robert (Investigator 03)
Laing, Nigel (Investigator 04)
Carninci, Piero (Investigator 05)

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

3 Article

3 results

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2022
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H. I., Ceylaner, S., Drewes, S., Vockley, J. & Taylor, R. L. & 18 others, Folland, C., Kelly, A., Goullee, H., Ylikallio, E., Auranen, M., Tyynismaa, H., Udd, B., Forrest, A. R. R., Davis, M. R., Bratkovic, D., Manton, N., Robertson, T., O'Gorman, C., McCombe, P., Laing, N. G., Phillips, L., de Lonlay, P. & Ravenscroft, G., 1 Nov 2022, In: Brain : a journal of neurology. 145, 11, p. 3985-3998 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access
9 Citations (Scopus)
2021
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel
Goullée, H., Taylor, R. L., Forrest, A. R. R., Laing, N. G., Ravenscroft, G. & Clayton, J. S., Dec 2021, In: Skeletal Muscle. 11, 1, 23.
Research output: Contribution to journal › Article › peer-review

Open Access
5 Citations (Scopus)
2019
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé, M., Engvall, M., Ravenscroft, G., Cabrera-Serrano, M., Jiao, H., Bortolotti, C. A., Pignataro, M., Lambrughi, M., Jiang, H., Forrest, A. R. R., Benseny-Cases, N., Hofbauer, S., Obinger, C., Battistuzzi, G., Bellei, M., Borsari, M., Di Rocco, G., Viola, H. M., Hool, L. C. & Cladera, J. & 24 others, Lagerstedt-Robinson, K., Xiang, F., Wredenberg, A., Miralles, F., Baiges, J. J., Malfatti, E., Romero, N. B., Streichenberger, N., Vial, C., Claeys, K. G., Straathof, C. S. M., Goris, A., Freyer, C., Lammens, M., Bassez, G., Kere, J., Clemente, P., Sejersen, T., Udd, B., Vidal, N., Ferrer, I., Edström, L., Wedell, A. & Laing, N. G., 1 Dec 2019, In: Nature Communications. 10, 1, 1396.
Research output: Contribution to journal › Article › peer-review

Open Access
17 Citations (Scopus)

Novel genes in skeletal muscle disease

Research output

Search results

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions