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Publications: Centre for Molecular Medicine and Innovative Therapeutics

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Number of items at this level: 195.

Journal Article

Alves, E., McLeish, E., Blancafort, P., Coudert, J.D. and Gaudieri, S. (2021) Manipulating the NKG2D receptor-ligand axis using CRISPR: Novel technologies for improved host immunity. Frontiers in Immunology, 12 . Article 712722.

Amato, A.A., Hanna, M.G., Machado, P.M., Badrising, U.A., Chinoy, H., Benveniste, O., Karanam, A.K., Wu, M., Tankó, L.B., Schubert-Tennigkeit, A.A., Papanicolaou, D.A., Lloyd, T.E., Needham, M., Liang, C., Reardon, K.A., de Visser, M., Ascherman, D.P., Barohn, R.J., Dimachkie, M.M., Miller, J.A.L., Kissel, J.T., Oskarsson, B., Joyce, N.C., Van den Bergh, P., Baets, J., De Bleecker, J.L., Karam, C., David, W.S., Mirabella, M., Nations, S.P., Jung, H.H., Pegoraro, E., Maggi, L., Rodolico, C., Filosto, M., Shaibani, A.I., Sivakumar, K., Goyal, N.A., Mori-Yoshimura, M., Yamashita, S., Suzuki, N., Aoki, M., Katsuno, M., Morihata, H., Murata, K., Nodera, H., Nishino, I., Romano, C.D., Williams, V.S.L., Vissing, J. and Zhang Auberson, L. (2021) Efficacy and safety of Bimagrumab in sporadic inclusion body myositis. Neurology, 96 (12). e1595-e1607.

Ankit, ., Kumar, R., Wang, T., Veedu, R.N. and Kumar, S. (2022) Novel 3′-[4-fluoroaryl-(1,2,3-triazol-1-yl)]-3′-deoxythymidine analogues: Design, synthesis, characterization and their potential as anticancer agents. Nucleosides, Nucleotides & Nucleic Acids . pp. 1-18.

Ankit, ., Wang, T., Veedu, R.N., Abdmouleh, F., Arbi, M.E. and Kumar, S. (2020) Synthesis and biological evaluation of triazolylnucleosides as antibacterial and anticancer agents. Chemical Data Collections, 28 . Art.100429.

Aung-Htut, M.T., Ham, K.A.ORCID: 0000-0002-7036-5334, Tchan, M., Johnsen, R., Schnell, F.J., Fletcher, S. and Wilton, S.D. (2020) Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease. Scientific Reports, 10 . Article number: 6702.

Aung-Htut, M.T., Ham, K.A.ORCID: 0000-0002-7036-5334, Tchan, M.C., Fletcher, S. and Wilton, S.D. (2020) Novel mutations found in individuals with adult-onset Pompe disease. Genes, 11 (2). Article 135.

Aung-Htut, M.T., McIntosh, C.S., Ham, K.A.ORCID: 0000-0002-7036-5334, Pitout, I.L., Flynn, L.L., Greer, K., Fletcher, S. and Wilton, S.D. (2019) Systematic approach to developing splice modulating antisense oligonucleotides. International Journal of Molecular Sciences, 20 (20). Article 5030.

Aung-Htut, M.T., McIntosh, C.S., West, K.A.ORCID: 0000-0002-7036-5334, Fletcher, S. and Wilton, S.D. (2019) In vitro validation of phosphorodiamidate morpholino oligomers. Molecules, 24 (16). Article 2922.

Bakeberg, M.C., Gorecki, A.M., Pfaff, A.L.ORCID: 0000-0002-2231-9800, Hoes, M.E., Kõks, S., Akkari, P.A., Mastaglia, F.L. and Anderton, R.S. (2021) TOMM40 ‘523’ poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson’s disease. npj Parkinson's Disease, 7 . Article 56.

Bakeberg, M.C., Hoes, M.E., Gorecki, A.M., Theunissen, F., Pfaff, A.L.ORCID: 0000-0002-2231-9800, Kenna, J.E., Plunkett, K., Kõks, S., Akkari, P.A., Mastaglia, F.L. and Anderton, R.S. (2021) The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease. Scientific Reports, 11 . Article 6363.

Bakeberg, M.C., Riley, M., Byrnes, M., Jefferson, A., Ghosh, S., Horne, M.K., McGregor, S., Stell, R., Walters, S., Evans, T., Roberts, K., Mastaglia, F.L., Anderton, R.S. and Ferrarese, C. (2020) Elevated serum ceruloplasmin levels are associated with higher impulsivity in people with Parkinson’s Disease. Parkinson's Disease, 2020 . pp. 1-7.

Balachandran, A.A., Larcher, L.M., Chen, S. and Veedu, R.N. (2020) Therapeutically significant MicroRNAs in primary and metastatic brain malignancies. Cancers, 12 (9). Article 2534.

Beer, K., Gentgall, M., Templeton, N., Whitehouse, C. and Straiton, N. (2022) Who’s included? The role of the Clinical Research Nurse in enabling research participation for under-represented and under-served groups. Journal of Research in Nursing, 27 (1-2). pp. 143-154.

Benzian-Olsson, N., Dand, N., Chaloner, C., Bata-Csorgo, Z., Borroni, R., Burden, A.D., Cooper, H.L., Cornelius, V., Cro, S., Dasandi, T., Griffiths, C.E.M., Kingo, K., Kõks, S., Lachmann, H., McAteer, H., Meynell, F., Mrowietz, U., Parslew, R., Patel, P., Pink, A.E., Reynolds, N.J., Tanew, A., Torz, K., Trattner, H., Wahie, S., Warren, R.B., Wright, A., Barker, J.N., Navarini, A.A., Smith, C.H. and Capon, F. (2020) Association of clinical and demographic factors with the severity of Palmoplantar Pustulosis. JAMA Dermatology (Online First). Art. e203275.

Berthold, N., Pytte, J., Bulik, C.M., Tschochner, M., Medland, S.E. and Akkari, P.A. (2022) Bridging the gap: Short structural variants in the genetics of anorexia nervosa. International Journal of Eating Disorders . Early View.

Brini, S., Sohrabi, H.R.ORCID: 0000-0001-8017-8682, Hebert, J.J., Forrest, M.R.L., Laine, M., Hämäläinen, H., Karrasch, M., Peiffer, J.J.ORCID: 0000-0002-3331-1177, Martins, R.N. and Fairchild, T.J.ORCID: 0000-0002-3975-2213 (2020) Bilingualism is associated with a delayed onset of dementia but not with a lower risk of developing it: A systematic review with meta-analyses. Neuropsychology Review, 30 . pp. 1-24.

Cale, J.M., Greer, K., Fletcher, S. and Wilton, S.D. (2021) Proof-of-concept: Antisense oligonucleotide mediated skipping of fibrillin-1 exon 52. International Journal of Molecular Sciences, 22 (7). Article 3479.

Chakravarthy, M., Chen, S., Wang, T. and Veedu, R.N. (2020) Development of novel chemically-modified nucleic acid molecules for efficient inhibition of human MAPT gene expression. Genes, 11 (6). Article 667.

Chakravarthy, M. and Veedu, R.N. (2019) BACE1 inhibition using 2’-OMePS steric blocking antisense oligonucleotides. Genes, 10 (9).

Chen, J., Deng, Y., Wang, J., Chen, S., Peng, F., He, X., Liu, M., Luo, H., Zhang, J. and Chen, L. (2021) Cyclometalated Ru(II) β-carboline complexes induce cell cycle arrest and apoptosis in human HeLa cervical cancer cells via suppressing ERK and Akt signaling. JBIC Journal of Biological Inorganic Chemistry .

Chen, J., Wang, J., Deng, Y., Wang, T., Miao, T., Li, C., Cai, X., Liu, Y., Henri, J. and Chen, L. (2020) Ru(II) Complexes Bearing O, O-Chelated Ligands Induced Apoptosis in A549 Cells through the Mitochondrial Apoptotic Pathway. Bioinorganic Chemistry and Applications, 2020 . pp. 1-16.

Chen, L., Wang, J., Cai, X., Chen, S., Zhang, J., Li, B., Chen, W., Guo, X., Luo, H. and Chen, J. (2022) Cyclometalated Ru(II)-isoquinoline complexes overcome cisplatin resistance of A549/DDP cells by downregulation of Nrf2 via Akt/GSK-3β/Fyn pathway. Bioorganic Chemistry, 119 . Art. 105516.

Chen, S., Acosta, D., Li, L., Liang, J., Chang, Y., Wang, C., Fitzgerald, J., Morrison, C., Goulbourne, C.N., Nakano, Y., Villegas, N.C.H., Venkataraman, L., Brown, C., Serrano, G.E., Bell, E., Wemlinger, T., Wu, M., Kokiko-Cochran, O.N., Popovich, P., Flowers, X.E., Honig, L.S., Vonsattel, J.P., Scharre, D. W., Beach, T.G., Ma, Q., Kuret, J., Kõks, S., Urano, F., Duff, K.E. and Fu, H. (2022) Wolframin is a novel regulator of tau pathology and neurodegeneration. Acta Neuropathologica, 143 (5). pp. 547-569.

Chen, S., Le, B.T., Chakravarthy, M., Kosbar, T.R. and Veedu, R.N. (2020) Author Correction: Systematic evaluation of 2′-Fluoro modified chimeric antisense oligonucleotide-mediated exon skipping in vitro. Scientific Reports, 10 (1). Art. 6669.

Chen, S., Le, B.T., Chakravarthy, M., Kosbar, T.R. and Veedu, R.N. (2019) Systematic evaluation of 2′-Fluoro modified chimeric antisense oligonucleotide-mediated exon skipping in vitro. Scientific Reports, 9 (1). Article number 6078.

Chen, S., Sbuh, N. and Veedu, R.N. (2020) Antisense oligonucleotides as potential therapeutics for Type 2 Diabetes. Nucleic Acid Therapeutics, 31 (1). pp. 39-47.

Coudert, J.D., McLeish, E., Sooda, A., Slater, N., Beer, K., Paramalingam, S., Lamont, P.J. and Needham, M. (2021) Isolation of live leukocytes from human inflammatory muscles. Methods and Protocols, 4 (4). Article 75.

Dewhurst, R.E., Heinrich, T., Watt, P., Ostergaard, P., Marimon, J.M., Moreira, M., Houldsworth, P.E., Rudrum, J.D., Wood, D. and Kõks, S. (2022) Validation of a rapid, saliva-based, and ultra-sensitive SARS-CoV-2 screening system for pandemic-scale infection surveillance. Scientific Reports, 12 (1). Art. 5936.

Dhillon, S., Abeyweera, P., Kosky, C., Harrison, L., Isaac, A., Noffsinger, W., Pang, E., Needham, M., Stell, R. and Singh, B. (2022) Isolated diaphragm weakness and the diagnostic value of phrenic nerve stimulation. Respirology Case Reports, 10 (5). Art. e0915.

Domenighetti, C., Sugier, P-E, Sreelatha, A.A.K., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Kõks, S., Taba, P., Lesage, S., Brice, A., Corvol, J-C, Chartier-Harlin, M-C, Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y.J., Kolber, P., van de Warrenburg, B.P.C., Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez-Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M. and Elbaz, A. (2022) Mendelian randomisation study of smoking, alcohol, and coffee drinking in relation to Parkinson’s Disease. Journal of Parkinson's Disease, 12 (1). pp. 267-282.

Domenighetti, C., Sugier, P‐E, Ashok Kumar Sreelatha, A., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov‐Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Kõks, S., Taba, P., Lesage, S., Brice, A., Corvol, J‐C, Chartier‐Harlin, M‐C, Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y.J., Kolber, P., Warrenburg, B.P.C., Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Correia Guedes, L., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez‐Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M. and Elbaz, A. (2022) Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. Movement Disorders . Early View.

Doualeh, M., Payne, M., Litton, E., Raby, E. and Currie, A. (2022) Molecular methodologies for improved polymicrobial sepsis diagnosis. International Journal of Molecular Sciences, 23 (9). Article 4484.

Eltermaa, M., Jakobson, M., Utt, M., Kõks, S., Mägi, R. and Starkopf, J. (2019) Genetic variants in humanin nuclear isoform gene regions show no association with coronary artery disease. BMC Research Notes, 12 (1).

Enticott, P.G., Barlow, K., Guastella, A.J, Licari, M.K., Rogasch, N.C., Middeldorp, C.M., Clark, S.R., Vallence, A-MORCID: 0000-0001-9190-6366, Boulton, K.A., Hickie, I.B., Whitehouse, A.J.O., Galletly, C., Alvares, G.A., Fujiyama, H.ORCID: 0000-0002-7546-6636, Heussler, H., Craig, J.M., Kirkovski, M., Mills, N.T., Rinehart, N.J., Donaldson, P.H., Ford, T.C., Caeyenberghs, K., Albein-Urios, N., Bekkali, S. and Fitzgerald, P.B. (2021) Repetitive transcranial magnetic stimulation (rTMS) in autism spectrum disorder: protocol for a multicentre randomised controlled clinical trial. BMJ Open, 11 (7). Art. e046830.

Fabis‐Pedrini, M.J., Kuhle, J., Roberts, K.M.A., Trend, S., Jones, A.P., Maceski, A., Carroll, W.M., Lucas, R.M., Mastaglia, F.L., Hart, P.H. and Kermode, A.G. (2022) Changes in serum neurofilament light chain levels following narrowband ultraviolet B phototherapy in clinically isolated syndrome. Brain and Behavior, 12 (2). Art. e2494.

Feleke, M., Feng, W., Rothzerg, E., Song, D., Wei, Q., Kõks, S., Wood, D., Liu, Y. and Xu, J. (2022) Single-cell RNA-seq identification of four differentially expressed survival-related genes by a TARGET: Osteosarcoma database analysis. Experimental Biology and Medicine .

Fletcher, S., Hall, C., Anastasas, M., Martin, A., Chai, T., Priebatsch, K., Stirnweiss, A., Francis, R.W., Juraja, S.M., Mills, A.D., Ong, F., Florez, L., Kerfoot, M., Nicholls, J., Champain, D. and Cunningham, P. (2021) RNA therapeutics in the treatment of retinal disease - delivering the potential. Investigative Ophthalmology and Visual Science, 62 (8). Art. 1196.

Flynn, L.L., Li, R., Pitout, I.L., Aung-Htut, M.T., Larcher, L.M., Cooper, J.A.L., Greer, K.L., Hubbard, A., Griffiths, L., Bond, C.S., Wilton, S.D., Fox, A.H. and Fletcher, S. (2022) Single stranded fully Modified-Phosphorothioate oligonucleotides can induce structured nuclear inclusions, alter nuclear protein localization and disturb the transcriptome In Vitro. Frontiers in Genetics, 13 . Art. 791416.

Flynn, L.L., Mitrpant, C., Adams, A., Pitout, I.L., Stirnweiss, A., Fletcher, S. and Wilton, S.D. (2021) Targeted SMN exon skipping: A useful control to assess in vitro and in vivo splice-switching studies. Biomedicines, 9 (5). Article 552.

Foster, A.D., Downing, P., Figredo, E., Polain, N., Stott, A., Layfield, R. and Rea, S.L. (2020) ALS-associated TBK1 variant p.G175S is defective in phosphorylation of p62 and impacts TBK1-mediated signalling and TDP-43 autophagic degradation. Molecular and Cellular Neuroscience, 108 . Art. 103539.

Foster, A.D., Flynn, L.L., Cluning, C., Cheng, F., Davidson, J.M., Lee, A., Polain, N., Mejzini, R., Farrawell, N., Yerbury, J.J., Layfield, R., Akkari, P.A. and Rea, S.L. (2021) p62 overexpression induces TDP-43 cytoplasmic mislocalisation, aggregation and cleavage and neuronal death. Scientific Reports, 11 (1). Art. 11474.

Fröhlich, A., Pfaff, A.L.ORCID: 0000-0002-2231-9800, Bubb, V.J., Kõks, S. and Quinn, J.P. (2022) Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus. Frontiers in Molecular Neuroscience, 15 . Art. 815695.

Fujiyama, H.ORCID: 0000-0002-7546-6636, Tan, J., Puri, R. and Hinder, M.R. (2022) Influence of tDCS over right inferior frontal gyrus and pre-supplementary motor area on perceptual decision-making and response inhibition: A healthy ageing perspective. Neurobiology of Aging, 109 . pp. 11-21.

Gimenez Molina, A., Raguraman, P., Delcomyn, L., Veedu, R.N. and Nielsen, P. (2022) Oligonucleotides containing 2′-O-methyl-5-(1-phenyl-1,2,3-triazol-4-yl)uridines demonstrate increased affinity for RNA and induce exon-skipping in vitro. Bioorganic & Medicinal Chemistry, 55 . Art. 116559.

Gorecki, A.M., Bakeberg, M.C., Theunissen, F., Kenna, J.E., Hoes, M.E., Pfaff, A.L.ORCID: 0000-0002-2231-9800, Akkari, P.A., Dunlop, S.A., Kõks, S., Mastaglia, F.L. and Anderton, R.S. (2020) Single nucleotide polymorphisms associated with gut homeostasis influence risk and age-at-onset of Parkinson's disease. Frontiers in Aging Neuroscience, 12 . Article 603849.

Gorecki, A.M., Preskey, L., Bakeberg, M.C., Kenna, J.E., Gildenhuys, C., MacDougall, G., Dunlop, S.A., Mastaglia, F.L., Akkari, P.A., Koengten, F. and Anderton, R.S. (2019) Altered gut microbiome in Parkinson’s disease and the influence of lipopolysaccharide in a human α-Synuclein over-expressing mouse model. Frontiers in Neuroscience, 13 . Article number 839.

Grainok, J., Pitout, I., Wilton, S., Chen, F.K., Mitrpant, C. and Fletcher, S. (2021) Modulation of CNOT3 expression using antisense oligomers to treat retinitis pigmentosa 11. Investigative Ophthalmology and Visual Science, 62 (8). Article 1181.

Greer, K., Johnsen, R., Nevo, Y., Fellig, T., Fletcher, S. and Wilton, S.D. (2020) Single exon skipping can address a multi-exon duplication in the dystrophin gene. International Journal of Molecular Sciences, 21 (12). Article 4511.

Gupta, N., Partridge, G.J., Buller, N.B., Pilmer, L., Currie, A. and Lymbery, A.J.ORCID: 0000-0002-0542-3446 (2022) Corrigendum to “Genetic diversity of Australian isolates of Photobacterium damselae subsp. damselae is associated with virulence to yellowtail kingfish (Seriola lalandi)” [Aquaculture 538 (2021) 736552]. Aquaculture, 552 . Art. 737986.

Gupta, N., Partridge, G.J., Buller, N.B., Pilmer, L., Currie, A. and Lymbery, A.J.ORCID: 0000-0002-0542-3446 (2021) Genetic diversity of Australian isolates of Photobacterium damselae subsp. damselae is associated with virulence to yellowtail kingfish (Seriola lalandi). Aquaculture, 538 . Art. 736552.

Hade, A-C, Philips, M-A, Reimann, E., Jagomäe, T., Eskla, K-L, Traks, T., Prans, E., Kõks, S., Vasar, E. and Väli, M. (2021) Chronic alcohol use induces molecular genetic changes in the Dorsomedial Thalamus of people with Alcohol-Related disorders. Brain Sciences, 11 (4). Art. 435.

Ham, K.A.ORCID: 0000-0002-7036-5334, Aung-Htut, M.T., Fletcher, S. and Wilton, S.D. (2020) Nonsequential splicing events alter antisense-mediated exon skipping outcome in COL7A1. International Journal of Molecular Sciences, 21 (20). Article 7705.

Ham, K.A.ORCID: 0000-0002-7036-5334, Keegan, N.P., McIntosh, C.S., Aung-Htut, M.T., Zaw, K.ORCID: 0000-0002-4121-1985, Greer, K., Fletcher, S. and Wilton, S.D. (2021) Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides. Scientific Reports, 11 (1). Article 15137.

Hansen, B.R., Whitehouse, C.L., Nkimbeng, M., Beer, K., Mackintosh, K., Allgood, S., Petchler, C. and Wright, R. (2022) Capturing the value and core concepts of the Clinical Research Nurse. Journal of Research in Nursing, 27 (1-2). pp. 32-47.

Hibbert, J., Armstrong, N.J.ORCID: 0000-0002-4477-293X, Granland, C., Ng, S., Simmer, K., Richmond, P., Burgner, D., Strunk, T. and Currie, A. (2021) Plasma secretory phospholipase A2 as an early marker for late‐onset sepsis in preterm infants—a pilot study. Acta Paediatrica . Early View.

Hibbert, J., Strunk, T., Nathan, E., Prosser, A., Doherty, D., Simmer, K., Richmond, P., Burgner, D. and Currie, A. (2022) Composition of early life leukocyte populations in preterm infants with and without late-onset sepsis. PLoS ONE, 17 (3). Art. e0264768.

Hiraoka, H., Shu, Z., Tri Le, B., Masuda, K., Nakamoto, K., Fangjie, L., Abe, N., Hashiya, F., Kimura, Y., Shimizu, Y., Veedu, R.N. and Abe, H. (2021) Antisense oligonucleotide modified with disulfide units induces efficient exon skipping in mdx Myotubes through enhanced membrane permeability and nucleus internalization. ChemBioChem . Early View.

Hodgetts, C.J., Leboeuf-Yde, C., Beynon, A. and Walker, B.F.ORCID: 0000-0002-8506-6740 (2022) Correction to: Shoulder pain prevalence by age and within occupational groups: A systematic review. Archives of Physiotherapy, 12 (1). Art. 3.

Hodgetts, C.J., Leboeuf-Yde, C., Beynon, A. and Walker, B.F.ORCID: 0000-0002-8506-6740 (2021) Shoulder pain prevalence by age and within occupational groups: A systematic review. Archives of Physiotherapy, 11 (1). Art. 24.

Hordacre, B., Austin, D., Brown, K.E., Graetz, L., Pareés, I., De Trane, S., Vallence, A-MORCID: 0000-0001-9190-6366, Koblar, S., Kleinig, T., McDonnell, M.N., Greenwood, R., Ridding, M.C. and Rothwell, J.C. (2021) Evidence for a window of enhanced plasticity in the human motor cortex following ischemic stroke. Neurorehabilitation and Neural Repair . Online First.

Howell, J.Mc.C., Pari, G., Wilton, S., Fletcher, S., Davies, L., Lloyd, F., Nalbantoglu, J., Collins, T.ORCID: 0000-0003-4597-0812, Di Mauro, S., Kakulas, B. and Karpati, G. (2000) Gene therapy trials in the ovine model of McArdle's disease. Brain Pathology, 10 (4). p. 544.

Huang, D., Heath Jeffery, R.C., Aung-Htut, M.T., McLenachan, S., Fletcher, S., Wilton, S.D. and Chen, F.K. (2021) Stargardt disease and progress in therapeutic strategies. Ophthalmic Genetics . ahead-of-print.

Huang, D., Thompson, J.A., Charng, J., Chelva, E., McLenachan, S., Chen, S‐C, Zhang, D., McLaren, T.L., Lamey, T.M., Constable, I.J., De Roach, J.N., Aung‐Htut, M.T., Adams, A.M., Fletcher, S., Wilton, S.D. and Chen, F.K. (2020) Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect. Molecular Genetics & Genomic Medicine . Art. e1259.

Huang, D., Thompson, J.A., McLenachan, S., Chen, S-C, Zhang, D., Heath Jeffery, R.C., Attia, M., McLaren, T.L., Lamey, T.M., De Roach, J.N., Aung-Htut, M.T., Adams, A., Fletcher, S., Wilton, S. and Chen, F.K. (2021) Using induced pluripotent stem cell-derived retinal pigment epithelial cells to model splicing defects of ABCA4 c.5461-10T > C detected in an Australian Stargardt disease cohort. Investigative Ophthalmology and Visual Science, 62 (8). Art. 3294.

Huang, D., Zhang, D., Chen, S-C, Aung-Htut, M.T., Lamey, T.M., Thompson, J.A., McLaren, T.L., De Roach, J.N., Fletcher, S., Wilton, S.D., Chen, F.K. and McLenachan, S. (2021) Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene. Stem Cell Research, 54 . Art. 102448.

Huang, D., Zhang, D., Chen, S-C, Thandar Aung-Htut, M., Lamey, T.M., Thompson, J.A., McLaren, T.L., De Roach, J.N., Fletcher, S., Wilton, S.D., McLenachan, S. and Chen, F.K. (2021) Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene. Stem Cell Research, 54 . Art. 102439.

Huang, Z., Zhang, D., Chen, S‐C, Jennings, L., Carvalho, L.S., Fletcher, S., Chen, F.K. and McLenachan, S. (2021) Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epithelium. Journal of Cellular and Molecular Medicine, 25 (21). pp. 10020-10027.

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van Rheenen, W., van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H-J, Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H-J, Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., Başak, N., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D’alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc’h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Braun, A., Kraft, J., Whiteman, D.C., Olsen, C.M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nöthen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Canosa, A., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., D’Alfonso, S., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Ceroni, M., Gagliardi, S., Corrado, L., Mazzini, L., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Mitne Neto, M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jörk, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hübner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavač, M., Glavač, D., Stević, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A., Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N., van Es, M.A., Pasterkamp, R.J., Fan, D., Garton, F.C., McRae, A.F., Davey Smith, G., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H. and Veldink, J.H. (2022) Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 54 . Art. 361.

Non-refereed Article

Ham, K.ORCID: 0000-0002-7036-5334, Keegan, N., McIntosh, C., Aung-Htut, M., Zaw, K.ORCID: 0000-0002-4121-1985, Greer, K., Fletcher, S. and Wilton, S. (2021) Cryptic U2-dependent pre-mRNASplice site usage induced by splice switching antisense oligonucleotides. Research Square . In Review.

Conference Item

Jones, L.H., Marney, L.D., Quinn, J.P., Bubb, V.J., Kõks, S. and Pfaff, A.L.ORCID: 0000-0002-2231-9800 (2021) Identification of molecular markers that correlate with the progression of Parkinson’s Disease. In: BNA 2021 5th Festival of Neuroscience, 12 - 15 April 2021, Virtual.

Book Chapter

González-Navarro, H., Dogan, S., Tuna, B.G., Potter, P.K., Kõks, G. and Kõks, S. (2019) Aging in rodents. In: Rattan, S.I.S., (ed.) Reference Module in Biomedical Sciences. Academic Press, pp. 73-87.

Thesis

Cale, Jessica M. (2021) Antisense oligonucleotide-mediated alternative splicing strategies to treat the type-1 fibrillinopathies. PhD thesis, Murdoch University.

Grainok, Janya (2021) Development of molecular therapies for retinitis pigmentosa 11. PhD thesis, Murdoch University.

Huang, Di (2021) Characterizing Stargardt disease-causing mutations to identify ABCA4 gene lesions amenable to splice intervention therapeutics. PhD thesis, Murdoch University.

Keegan, Niall Patrick (2022) Hidden stitches: RNA cryptic splicing and its role in human disease. PhD thesis, Murdoch University.

McIntosh, Craig Stewart (2020) Antisense oligonucleotide-mediated therapeutic strategies for neurodegenerative repeat expansion diseases. PhD thesis, Murdoch University.

This list was generated on Fri May 27 22:25:51 2022 UTC.