Centre for Neuromuscular & Neurological Disorders

Research Output 1979 2019

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Abstract/Meeting Abstract
2019

A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model

Bolduc, V., Foley, A. R., Solomon-Degefa, H., Sarathy, A., Donkervoort, S., Hu, Y., Chen, G. S., Nalls, M., Zhou, H., Aguti, S., Cummings, B. B., Lek, M., Tukiainen, T., Marshall, J. L., Regev, O., Marek-Yagel, D., Sarkozy, A., Butterfield, R. J., Jou, C., Jimenez-Mallebrera, C. & 15 othersLi, Y., Cheng, J., Garrett, L., Gartioux, C., Mamchaoui, K., Allamand, V., Gualandi, F., Ferlini, A., Hanssen, E., Wilton, S. D., Lamande, S. R., MacArthur, D. G., Wagener, R., Muntoni, F. & Bonnemann, C. G., 22 Apr 2019, In : Molecular Therapy. 27, 4, p. 304-304 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2018
8 Citations (Scopus)

RESCUE OF CFTR FUNCTION IMPAIRED BY MUTATIONS IN EXON 15 IN CHILDREN WITH CYSTIC FIBROSIS

AREST CF & WAERP, Sep 2018, In : Pediatric Pulmonology. 53, p. 224-224 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2017

A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides

Bolduc, V., Foley, A., Donkervoort, S., Hu, Y., Cummings, B., Lek, M., Sarathy, A., Sizov, K., Degefa, H., Wagener, R., Hennig, G., Hanssen, E., Lamande, S., Muntoni, F., Wilton, S., MacArthur, D. & Bonnemann, C., Oct 2017, In : Neuromuscular Disorders. 27, p. S177-S177 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Altered regulatory T-cell fractions and Helios expression in Clinically Isolated Syndrome

Jones, A., Trend, S., Byrne, S. N., Fabis-Pedrini, M. J., Geldenhuys, S., Nolan, D., Booth, D. R., Carroll, W. M., Lucas, R. M., Kermode, A. G. & Hart, P. H., Nov 2017, In : Multiple Sclerosis. 23, 13, p. NP7-NP7 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Cladribine versus fingolimod, natalizumab and interferon beta for multiple sclerosis

Kalincik, T., Jokubaitis, V., Spelman, T., Horakova, D., Havrdova, E., Trojano, M., Lechner-Scott, J., Lugaresi, A., Prat, A., Girard, M., Duquette, P., Grammond, P., Solaro, C., Grand'Maison, F., Hupperts, R., Prevost, J., Sola, P., Ferraro, D., Terzi, M., Butler, E. & 9 othersSlee, M., Kermode, A., Fabis-Pedrini, M., McCombe, P., Barnett, M., Shaw, C., Hodgkinson, S., Butzkueven, H. & MSBase Study Grp, Oct 2017, In : Multiple Sclerosis. 23, p. 596-597 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Expression of MS risk genes in whole blood of CIS patients treated with narrow band UVB phototherapy

Gatt, P., Lucas, R. M., Carroll, W. M., Nolan, D., Cole, J. M., Jones, A. P., Trend, S., Cha, L., Kermode, A. G., Hart, P. H. & Booth, D. R., Nov 2017, In : Multiple Sclerosis. 23, 13, p. NP14-NP14 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Functional Improvement of Dystrophic Muscle via let7 Site Blocking Oligonucleotide Mediated Utrophin Upregulation

Mishra, M. K., Loro, E., Wilton, S. D. & Khurana, T. S., Apr 2017, In : FASEB Journal. 31, 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

17 Citations (Scopus)

MS FIRST - utilising a longitudinal, prospective, comparative drug safety module for use in everyday MS clinical practice to evaluate and track incidence and characteristics of safety outcomes in MS patients on therapy over the long term

Haartsen, J., Spelman, T., Baker, J., Agland, S., Lechner-Scott, J., Burke, T., Vucic, S., Rath, L., Skibina, O., Toubia, M., Slee, M., Taylor, B., Mac Gregor, S., Oconnell, A. M., Barnett, M., Baker, S., Sharma, M., Hodgkinson, S., Walters, S., Kermode, A. & 8 othersHayes, W., Butler, E., Sheuy, N., Shaw, C., Portley, R., Hardy, T., Tan, I. L. & Butzkueven, H., Oct 2017, In : Multiple Sclerosis Journal. 23, p. 403-404 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Narrowband UVB phototherapy for Clinically Isolated Syndrome: Delivering the benefits of all UVB-induced molecules to early MS patients

Hart, P., Kermode, A. G., Lucas, R. M., Booth, D. R., Carroll, W. M., Nolan, D., Cole, J. M., Byrne, S. N., Jones, A. P., Trend, S. & Cha, L., Nov 2017, In : Multiple Sclerosis. 23, 13, p. NP7-NP7 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Neuroprotective efficacy of poly-arginine-18 (R18) peptides using an in vivo model of perinatal hypoxic ischaemic encephalopathy (HIE)

Edwards, A., Feindel, K., Cross, J., Anderton, R., Clark, V., Knuckey, N. & Meloni, B., Apr 2017, In : Journal of Cerebral Blood Flow and Metabolism. 37, p. 18-19 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

RESTORATION OF CFTR FUNCTION BY ANTISENSE OLIGONUCLEOTIDE SPLICING MODULATION

Oren, Y., Tur-Sinai, I. M., Ozeri-Galai, E., Avizur, O., Mutyam, V., Wilton, S., Rowe, S. M. & Kerem, B., Sep 2017, In : Pediatric Pulmonology. 52, p. S313-S313 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

The neuroprotective peptide poly-arginine-12 (R12) reduces cell surface levels of NMDA NR2B receptor subunit in cortical neurons

MacDougall, G., Anderton, R. S., Edwards, A. B., Knuckey, N. W. & Meloni, B. P., Apr 2017, In : Journal of Cerebral Blood Flow and Metabolism. 37, p. 388-388 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

3 Citations (Scopus)

Therapeutic overview of MS - emerging goals

Carroll, W., 15 Oct 2017, In : Journal of the Neurological Sciences. 381, p. 7-8 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Time Matters in Multiple Sclerosis - International Consensus Recommendations on Diagnosis, Management and Treatment Access

Carroll, W., Butzkueven, H., Dhib-Jalbut, S., Hobart, J., Kobelt, G., Pepper, G., Sormani, M. P., Thalheim, C., Traboulsee, A., Vollmer, T. & Giovannoni, G., Feb 2017, In : Multiple Sclerosis. 23, 2, p. 332-332 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2013

The West Australian intravenous minocycline and tPA stroke study (WAIMATSS): progress update

Blacker, D. J., Prentice, D., Hankey, G. J., Bynevelt, M., Kohler, E., Bates, T. R., Kho, L. K., Alvaro, A., Kelly, A. & Claxton, A., Aug 2013, In : International Journal of Stroke. 8, p. 16-16 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract