By Professor Michelle Anne Farrar

Journal articles

Kariyawasam D; Alexander IE; Kurian M; Farrar MA, 2020, 'Great expectations: Virus-mediated gene therapy in neurological disorders', Journal of Neurology, Neurosurgery and Psychiatry, 91, pp. 849 - 860, http://dx.doi.org/10.1136/jnnp-2019-322327

Chambers GM; Settumba SN; Carey KA; Cairns A; Menezes MP; Ryan M; Farrar MA, 2020, 'Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy', Neurology, 95, pp. 1 - 10, http://dx.doi.org/10.1212/WNL.0000000000009715

Chiriboga CA; Darras BT; Farrar MA; Mercuri E; Kirschner J; Kuntz NL; Acsadi G; Tulinius M; Montes J; Gambino G; Foster R; Bhan I; Wong J; Kandinov B; Farwell W, 2020, 'Longer-term Treatment With Nusinersen: Results in Later-onset Spinal Muscular Atrophy From the SHINE Study (1661)', Neurology, 94, http://dx.doi.org/10.1212/wnl.94.15_supplement.1661

Castro D; Finkel RS; Farrar MA; Tulinius M; Krosschell KJ; Saito K; Gambino G; Foster R; Bhan I; Wong J; Kandinov B; Farwell W, 2020, 'Nusinersen in Infantile-onset Spinal Muscular Atrophy: Results from Longer-term Treatment from the Open-label SHINE Extension Study (1640)', Neurology, 94, http://dx.doi.org/10.1212/wnl.94.15_supplement.1640

Darras BT; De Vivo DC; Farrar MA; Mercuri E; Finkel RS; Foster R; Farwell W; Bhan I, 2020, 'Safety Profile of Nusinersen in Presymptomatic and Infantile-Onset Spinal Muscular Atrophy (SMA): Interim Results From the NURTURE and ENDEAR-SHINE Studies (1659)', Neurology, 94, http://dx.doi.org/10.1212/wnl.94.15_supplement.1659

Kandula T; Farrar MA; Cohn RJ; Carey KA; Johnston K; Kiernan MC; Krishnan AV; Park SB, 2020, 'Changes in long term peripheral nerve biophysical properties in childhood cancer survivors following neurotoxic chemotherapy', Clinical Neurophysiology, 131, pp. 783 - 790, http://dx.doi.org/10.1016/j.clinph.2019.12.411

Wan HWY; Carey KA; D'Silva A; Vucic S; Kiernan MC; Kasparian NA; Farrar MA, 2020, 'Health, wellbeing and lived experiences of adults with SMA: A scoping systematic review', Orphanet Journal of Rare Diseases, 15, pp. 70, http://dx.doi.org/10.1186/s13023-020-1339-3

Kariyawasam DST; Russell JS; Wiley V; Alexander IE; Farrar MA, 2020, 'The implementation of newborn screening for spinal muscular atrophy: the Australian experience', Genetics in Medicine, 22, pp. 557 - 565, http://dx.doi.org/10.1038/s41436-019-0673-0

Stelzer-Braid S; Wynn M; Chatoor R; Scotch M; Ramachandran V; Teoh HL; Farrar MA; Sampaio H; Andrews PI; Craig ME; MacIntyre CR; Varadhan H; Kesson A; Britton PN; Newcombe J; Rawlinson WD, 2020, 'Next generation sequencing of human enterovirus strains from an outbreak of enterovirus A71 shows applicability to outbreak investigations', Journal of Clinical Virology, 122, http://dx.doi.org/10.1016/j.jcv.2019.104216

Kariyawasam DST; D’Silva A; Herbert K; Lin CSY; Geelan-Small P; Farrar MA, 2020, '7. Motor unit changes in children with spinal muscular atrophy treated with nusinersen', Clinical Neurophysiology, 131, pp. e3 - e4, http://dx.doi.org/10.1016/j.clinph.2019.11.040

Mercuri E; Darras B; Chiriboga C; Farrar M; Kirschner J; Kuntz N; Acsadi G; Tulinius M; Montes J; Gambino G; Foster R; Ramirez-Schrempp D; Garafolo S; Farwell W, 2020, 'SMA – THERAPY', Neuromuscular Disorders, 30, pp. S121 - S121, http://dx.doi.org/10.1016/j.nmd.2020.08.256

Strauss K; Farrar M; Swoboda K; Saito K; Chiriboga C; Finkel R; Iannaccone S; Krueger J; Kwon J; McMillan H; Servais L; Mendell J; Parsons J; Scoto M; Shieh P; Zaidman C; Schultz M; Ogrinc F; Group S; Muntoni F, 2020, 'SMA – THERAPY', Neuromuscular Disorders, 30, pp. S122 - S122, http://dx.doi.org/10.1016/j.nmd.2020.08.259

Jones HF; Bryen SJ; Waddell LB; Bournazos A; Davis M; Farrar MA; McLean CA; Mowat DR; Sampaio H; Woodcock IR; Ryan MM; Jones KJ; Cooper ST, 2019, 'Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants', Neuromuscular Disorders, 29, pp. 913 - 919, http://dx.doi.org/10.1016/j.nmd.2019.09.013

Donkervoort S; Sabouny R; Yun P; Gauquelin L; Chao KR; Hu Y; Al Khatib I; Töpf A; Mohassel P; Cummings BB; Kaur R; Saade D; Moore SA; Waddell LB; Farrar MA; Goodrich JK; Uapinyoying P; Chan SHS; Javed A; Leach ME; Karachunski P; Dalton J; Medne L; Harper A; Thompson C; Thiffault I; Specht S; Lamont RE; Saunders C; Racher H; Bernier FP; Mowat D; Witting N; Vissing J; Hanson R; Coffman KA; Hainlen M; Parboosingh JS; Carnevale A; Yoon G; Schnur RE; Boycott KM; Mah JK; Straub V; Foley AR; Innes AM; Bönnemann CG; Shutt TE, 2019, 'MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement', Acta Neuropathologica, 138, pp. 1013 - 1031, http://dx.doi.org/10.1007/s00401-019-02059-z

Paguinto SG; Kasparian NA; Bray P; Farrar M, 2019, 'Parents’ perceptions of power wheelchair prescription for children with a neuromuscular disorder: a scoping review', Disability and Rehabilitation, 41, pp. 2750 - 2757, http://dx.doi.org/10.1080/09638288.2018.1474496

Darras BT; Farrar MA; Mercuri E; Finkel RS; Foster R; Hughes SG; Bhan I; Farwell W; Gheuens S, 2019, 'An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials', CNS Drugs, 33, pp. 919 - 932, http://dx.doi.org/10.1007/s40263-019-00656-w

Schultz M; Swoboda K; Farrar M; McMillan H; Parsons J; Wells C; Ogrinc FG; McGill B; Feltner DE; L’Italien J; Sproule DM; Strauss KA, 2019, 'AVXS-101 Gene-Replacement Therapy (GRT) in Presymptomatic Spinal Muscular Atrophy (SMA): Study Update (P1.6-057)', Neurology, 92, http://dx.doi.org/10.1212/wnl.92.15_supplement.p1.6-057

Finkel RS; Castro D; Farrar MA; Tulinius M; Krosschell KJ; Saito K; Zhang Y; Bhan I; Farwell W; Reyna SP, 2019, 'Interim Report on the Safety and Efficacy of Longer-Term Treatment With Nusinersen in Infantile-Onset Spinal Muscular Atrophy (SMA): Updated Results From the SHINE Study (S25.004)', Neurology, 92, http://dx.doi.org/10.1212/wnl.92.15_supplement.s25.004

Darras BT; Farrar MA; Mercuri E; Chiriboga CA; Kirschner J; Kuntz N; Shieh P; Tulinius M; Montes J; Gambino G; Foster R; Bhan I; Farwell W; Reyna SP, 2019, 'Interim Report on the Safety and Efficacy of Longer-term Treatment With Nusinersen in Later-onset Spinal Muscular Atrophy (SMA): Results From the SHINE Study (P1.6-063)', Neurology, 92, http://dx.doi.org/10.1212/wnl.92.15_supplement.p1.6-063

Wan HWY; Carey KA; D'Silva A; Kasparian NA; Farrar MA, 2019, '"Getting ready for the adult world": How adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being', Orphanet Journal of Rare Diseases, 14, pp. 74, http://dx.doi.org/10.1186/s13023-019-1052-2

Mandarakas MR; Menezes MP; Rose KJ; Shy R; Eichinger K; Foscan M; Estilow T; Kennedy R; Herbert K; Bray P; Refshauge K; Ryan MM; Yiu EM; Farrar M; Sampaio H; Moroni I; Pagliano E; Pareyson D; Yum SW; Herrmann DN; Acsadi G; Shy ME; Burns J; Sanmaneechai O, 2019, 'Erratum: Development and validation of the charcot-marie-tooth disease infant scale (Brain (2018) 141 (3319-3330) DOI: 10.1093/brain/awy280)', Brain, 142, pp. E14, http://dx.doi.org/10.1093/brain/awy332

Cornett KMD; Wojciechowski E; Sman AD; Walker T; Menezes MP; Bray P; Halaki M; Burns J; Sman D; Cornett KMD; Mandarakas MR; Rose KJ; Bray P; Baldwin J; McKay MJ; Refshauge KM; Raymond J; Sampaio H; Mudge A; Purcell L; Miller C; Gray K; Harman M; Gabrael N; Ouvrier RA; Farrar M, 2019, 'Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot–Marie–Tooth disease', Muscle and Nerve, 59, pp. 213 - 217, http://dx.doi.org/10.1002/mus.26352

Kariyawasam DST; D’silva A; Lin C; Ryan MM; Farrar MA; D'Silva A, 2019, 'Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy', Frontiers in Neurology, 10, pp. 898, http://dx.doi.org/10.3389/fneur.2019.00898

Farrar M; Swoboda KJ; Schultz M; McMillan H; Parsons J; Alexander IE; Kernbauer E; Farrow M; Ogrinc FG; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Strauss KA, 2019, '014 AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update', Journal of Neurology, Neurosurgery & Psychiatry, 90, pp. A5.3 - A6, http://dx.doi.org/10.1136/jnnp-2019-anzan.14

Day JW; Chiriboga CA; Crawford TO; Darras BT; Finkel RS; Connolly AM; Iannaccone ST; Kuntz NL; Pena LDM; Schultz M; Shieh PB; Smith EC; Farrar M; Feltner DE; Ogrinc FG; Macek TA; Kernbauer E; Muehring LM; L’Italien J; Sproule DM; Kaspar BK; Mendell JR, 2019, '066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update', Journal of Neurology, Neurosurgery & Psychiatry, 90, pp. A22.1 - A22, http://dx.doi.org/10.1136/jnnp-2019-anzan.58

Strauss KA; Swoboda KJ; Farrar MA; McMillan HJ; Parsons J; Krueger JM; Iannaccone ST; Chiriboga CA; Kwon JM; Saito K; Scoto M; Kausar I; Schultz M; Kernbauer E; Farrow M; Ogrinc FG; Kavanagh S; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Muntoni F, 2019, '15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA)', Journal of Neurology, Neurosurgery & Psychiatry, 90, pp. e7.1 - e7, http://dx.doi.org/10.1136/jnnp-2019-abn-2.20

Banuelos R; Beavis E; Le Marne F; Rowe N; Gao Y; Menzies J; Farrar MA; Cardamone M, 2019, 'Factors Affecting the Efficacy, Tolerability and Compliance of Dietary Therapy for Epilepsy- Four-Years Experience', Neurological Case Reports, 2, pp. 1010 - 1010, http://www.remedypublications.com/neurological-case-reports-abstract.php?aid=4936

Strauss KA; Swoboda KJ; Farrar MA; McMillan HJ; Parsons J; Krueger JM; Iannaccone ST; Chiriboga CA; Kwon JM; Saito K; Scoto M; Baldinetti F; Schultz M; Kernbauer E; Farrow M; Ogrinc FG; Kavanagh S; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Muntoni F, 2019, 'Onasemnogene abeparvovec gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): SPR1NT study update', Journal of the Neurological Sciences, 405, pp. 268 - 269, http://dx.doi.org/10.1016/j.jns.2019.10.1317

Schultz M; Swoboda K; Farrar M; McMillan H; Parsons J; Farrow M; Ogrinc FG; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Strauss KA, 2019, 'P.065 AVXS-101 gene-replacement therapy (GRT)) in presymptomatic spinal muscular atrophy (SMA): study update', Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 46, pp. S31 - S32, http://dx.doi.org/10.1017/cjn.2019.165

Schultz M; Swoboda K; Farrar M; McMillan H; Parsons J; Kernbauer E; Farrow M; Ogrinc F; Kavanagh S; Feltner D; McGill B; Spector S; L'Italien J; Sproule D; Strauss K, 2019, 'P.350Onasemnogene abeparvovec gene-replacement therapy (GRT) in pre-symptomatic spinal muscular atrophy (SMA)', Neuromuscular Disorders, 29, pp. S183 - S183, http://dx.doi.org/10.1016/j.nmd.2019.06.512

Mandarakas MR; Menezes MP; Rose KJ; Shy R; Eichinger K; Foscan M; Estilow T; Kennedy R; Herbert K; Bray P; Refshauge K; Ryan MM; Yiu EM; Farrar M; Sampaio H; Moroni I; Pagliano E; Pareyson D; Yum SW; Herrmann DN; Acsadi G; Shy ME; Burns J; Sanmaneechai O, 2018, 'Development and validation of the Charcot-Marie-Tooth disease infant scale', Brain, 141, pp. 3319 - 3330, http://dx.doi.org/10.1093/brain/awy280

Castro D; Farrar M; Finkel R; Tulinius M; Krosschell K; Saito K; Zhang Y; Bhan I; Farwell W; Reyna S, 2018, 'Interim report on the safety and efficacy of longer-term treatment with nusinersen in infantile-onset spinal muscular atrophy: results from the SHINE study', NEUROMUSCULAR DISORDERS, 28, pp. S79 - S80, http://dx.doi.org/10.1016/j.nmd.2018.06.198

Chen KA; Farrar M; Cardamone M; Gill D; Smith R; Cowell CT; Truong L; Lawson JA, 2018, 'Cannabidiol for treating drug-resistant epilepsy in children: The New South Wales experience', Medical Journal of Australia, 209, pp. 217 - 221, http://dx.doi.org/10.5694/mja18.00023

Fitzgerald DA; Abel F; Jones KJ; Farrar MA, 2018, 'Spinal muscular atrophy: A modifiable disease emerges', Paediatric Respiratory Reviews, 28, pp. 1 - 2, http://dx.doi.org/10.1016/j.prrv.2018.07.001

Sampaio H; Wilcken B; Farrar M, 2018, 'Screening for spinal muscular atrophy', The Medical journal of Australia, 209, pp. 147 - 148, http://dx.doi.org/10.5694/mja17.00772

Ho G; Carey K; Cardamone M; Farrar M, 2018, 'Myotonic dystrophy type 1: clinical manifestations in children and adolescents', Archives of Disease in Childhood, 104, pp. 48 - 52, http://dx.doi.org/10.1136/archdischild-2018-314837

Farrar MA; Carey KA; Paguinto SG; Chambers G; Kasparian NA, 2018, 'Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian carer perspectives.', BMJ Opem, 8, pp. e020907, http://dx.doi.org/10.1136/bmjopen-2017-020907

Kandula T; Farrar MA; Cohn R; Mizrahi D; Carey K; Johnston K; Kiernan M; Krishnan A; Park SB, 2018, 'Chemotherapy induced peripheral neuropathy in long-term survivors of childhood cancer: neurophysiological, functional and patient reported outcomes.', JAMA Neurology, 75, pp. 980 - 988, http://dx.doi.org/10.1001/jamaneurol.2018.0963

Oates E; Jones K; Donkervoort S; Charlton A; Brammah S; Smith J; Ware J; Yau K; Swanson L; Whiffin N; Peduto A; Bournazos A; Waddell L; Farrar M; Sampaio H; Teoh H; Lamont P; Mowat D; Fitzsimmons R; Corbett A; Ryan M; O'Grady G; Sandaradura S; Ghaoui R; Joshi H; Marshall J; Nolan M; Kaur S; Punetha J; Topf A; Harris E; Bakshi M; Genetti C; Marttila M; Werkauff U; Streichenberger N; Pestronk A; Mazanti I; Pinner J; Vuillerot C; Grosmann C; Camacho A; Mohassel P; Leach M; Foley A; Bharucha-Goeber D; Collins J; Connolly A; Gilbreath H; Iannaccone S; Castro D; Cummings B; Webster R; Lazaro L; Vissing J; Coppens S; Deconinck N; Luk H; Thomas N; Foulds N; Illingworth M; Ellard S; McLean C; Phadke R; Ravenscroft G; Witting N; Hackman P; Clarke N; Lek M; Beggs A; Bonnemann C; MacArthur D; Granzier H; Davis M; Laing N, 2018, 'Congenital titinopathy: comprehensive characterisation & pathogenic insights', Annals or Neurology, 83, pp. 1105 - 1124, http://dx.doi.org/10.1002/ana.25241

Kariyawasam D; Carey K; Jones K; Farrar MA, 2018, 'New and developing therapies in spinal muscular atrophy', Paediatric Respiratory Reviews, 28, pp. 3 - 10, http://dx.doi.org/10.1016/j.prrv.2018.03.003

Kandula T; Farrar MA; Krishnan AV; Murray J; Timmins HC; Goldstein D; Lin CSY; Kiernan MC; Park SB, 2018, 'Multimodal quantitative examination of nerve function in colorectal cancer patients prior to chemotherapy', Muscle and Nerve, 57, pp. 615 - 621, http://dx.doi.org/10.1002/mus.25968

Farrar MA; Teoh HL; Carey KA; Cairns A; Forbes R; Herbert K; Holland S; Jones KJ; Menezes MP; Morrison M; Munro K; Villano D; Webster R; Woodcock IR; Yiu EM; Sampaio H; Ryan MM, 2018, 'Nusinersen for SMA: expanded access programme', Journal of Neurology, Neurosurgery and Psychiatry, 89, pp. 937 - 942, http://dx.doi.org/10.1136/jnnp-2017-317412

Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK; Palmer E, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Chen KA; Farrar MA; Cardamone M; Lawson J, 2018, 'Cannabis for paediatric epilepsy: challenges and conundrums', The Medical journal of Australia, http://dx.doi.org/10.5694/mja17.00699

Sampaio H; Kariyawasam D; Buckley M; Mowat D; Robinson J; Taylor P; Jones K; Farrar M, 2018, 'DUCHENNE MUSCULAR DYSTROPHY - GENETICS', Neuromuscular Disorders, 28, pp. S97 - S98, http://dx.doi.org/10.1016/j.nmd.2018.06.264

Sampaio H; Farrar M; Al Safar A, 2018, 'LGMD AUTOSOMAL RESSESSIVE AND DOMINANT', Neuromuscular Disorders, 28, pp. S60 - S60, http://dx.doi.org/10.1016/j.nmd.2018.06.129

Sampaio H; Farrar M; Al Safar A, 2018, 'METABOLIC MYOPATHIES I', Neuromuscular Disorders, 28, pp. S112 - S112, http://dx.doi.org/10.1016/j.nmd.2018.06.315

Finkel RS; Mercuri E; Darras BT; Connolly AM; Kuntz NL; Kirschner J; Chiriboga CA; Saito K; Servais L; Tizzano E; Topaloglu H; Tulinius M; Montes J; Glanzman AM; Bishop K; Zhong ZJ; Gheuens S; Bennett CF; Schneider E; Farwell W; De Vivo DC; Bradley WG; Schroth MK; Bodensteriner JB; Davis CS; Shell R; Hen J; Austin ED; Aziz-Zaman S; Cappell J; Constantinescu A; Cruz R; Dastgir J; Dunaway S; Engelstad K; Gormley M; Holuba La Marca N; Khandji A; Kramer S; Marra J; Ortiz-Miller C; Popolizio M; Salazar R; Sanabria L; Weimer L; Anand P; Gadeken R; Golumbek PT; Siener C; Zaidman CM; Al-Ghamdi F; Berde C; Ghosh P; Graham R; Harrington T; Koka A; Laine R; Liew W; Mirek E; Ordonez G; Pasternak A; Quigley J; Sethna N; Souris M; Szelag H; Wand L; Day JW; D'Souza G; Duong TT; Gee R; Kitsuwa-Lowe J; McFall D; Patnaik S; Paulose S; Perez J; Proud C; Purse B; Ramamurthi RJ; Sakamuri S; Sampson J; Sanjanwala B; Tesi Rocha AC; Watson K; Welsh L; Pena LDM; Case L; Coates J; DeArmey S; Homi MM; Milleson C; Nelson N; Ross A; Smith E; Taicher B; Wootton J; Finanger E; Benjamin D; Frank A; Roberts C; Russman B; Farrar M; Kandula T, 2017, 'Nusinersen versus sham control in infantile-onset spinal muscular atrophy', New England Journal of Medicine, 377, pp. 1723 - 1732, http://dx.doi.org/10.1056/NEJMoa1702752

Kandula T; Farrar MA; Park SB; Howells J; Carey K; Lin CS, 2017, 'Maturation of motor and sensory axonal biophysical properties occurs in parallel from early childhood', JOURNAL OF THE NEUROLOGICAL SCIENCES, 381, pp. 497 - 497, http://dx.doi.org/10.1016/j.jns.2017.08.3609

Burns J; Sman AD; Cornett KMD; Wojciechowski E; Walker T; Menezes MP; Mandarakas MR; Rose KJ; Bray P; Sampaio H; Farrar M; Refshauge KM; Raymond J; Baldwin J; McKay MJ; Mudge A; Purcell L; Miller C; Gray K; Harman M; Gabrael N; Ouvrier RA, 2017, 'Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial', The Lancet Child and Adolescent Health, 1, pp. 106 - 113, http://dx.doi.org/10.1016/S2352-4642(17)30013-5

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