Search Results - Perez-Siles, G

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  1. 1
    A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

    A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4) by Perez-Siles, G, Ellis, M, Ashe, A, Grosz, B, Vucic, S, Kiernan, M C, Morris, K A, Reddel, S W, Kennerson, M L

    Published in Frontiers in genetics
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  2. 2
    Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

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

    Published in Scientific reports
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    482P Closing the gap in diagnosis of neuropathies and late-onset neurological disorders – a trans-Australia collaboration

    482P Closing the gap in diagnosis of neuropathies and late-onset neurological disorders – a trans-Australia collaboration by Laing, N., Kennerson, M., Lamont, P., Vucic, S., Davis, M., Bryson-Richardson, R., Ravenscroft, G., Perez-Siles, G., Ghaoui, R., Narayanan, R., McCombe, P., Deveson, I., Bryen, S., Grosz, B., Johari, M., Rick, A., Folland, C., Scriba, C., Parmar, J., Ellis, M.

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