Browsing by Author Reddel, Stephen

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Issue DateTitleAuthor(s)Citation
2016MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsAlbulym, Obaid M; Drew, Alexander Peter; Kennerson, Marina; Nicholson, Garth; Reddel, Stephen; Siddell, Anna; Auer-Grumbach, Michaela; Baloh, Robert H; Connolly, Anne; Harms, Matthew; Pestronk, Alan; Zuchner, Stephan; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteMORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs, Annals of Neurology, vol.79, 3, 2016,pp 419-427
2014Muscle Specific Kinase (MuSK) autoantibodies suppress the MuSK pathway and ACh receptor retention at the mouse neuromuscular junctionGhazanfari, Nazanin; Morsch, Marco; Phillips, William; Liang, Simon; Reddel, Stephen; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: PhysiologyMuscle Specific Kinase (MuSK) autoantibodies suppress the MuSK pathway and ACh receptor retention at the mouse neuromuscular junction, The Journal of Physiology, vol.592, 13, 2014,pp 2881-2897
2012Muscle specific kinase autoantibodies cause synaptic failure through progressive wastage of postsynaptic acetylcholine receptorsGhazanfari, Nazanin; Morsch, Marco; Phillips, William; Reddel, Stephen; Toyka, Klaus; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: PhysiologyMuscle specific kinase autoantibodies cause synaptic failure through progressive wastage of postsynaptic acetylcholine receptors, Experimental Neurology, vol.237, 2, 2012,pp 286-295
2011Muscle Specific Kinase: Organiser of synaptic membrane domainsFernandez, Kristine; Ghazanfari, Nazanin; Morsch, Marco; Murata, Yui; Phillips, William; Reddel, Stephen; Ngo, Shyuan T.; Noakes, Peter G.; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; Concord Clinical School: ANZAC Research InstituteMuscle Specific Kinase: Organiser of synaptic membrane domains, The International Journal of Biochemistry & Cell Biology, vol.43, 3, 2011,pp 295-298
2013Muscle-specific kinase antibodies: A novel cause of peripheral nerve hyperexcitability?Reddel, Stephen; Kiernan, Matthew; Layzer, Robert; Simon, Neil; Concord Clinical School: ANZAC Research InstituteMuscle-specific kinase antibodies: A novel cause of peripheral nerve hyperexcitability?, Muscle and Nerve, vol.48, 5, 2013,pp 819-823
2016Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasiaNicholson, Garth; Buckley, Michael F.; Farrar, Michelle; Lee, James; Reddel, Stephen; Roscioli, Tony; Sampaio, Hugo; Stoll, Marion; Teoh, Hooiling; Zhu, Ying; Concord Clinical School: ANZAC Research InstituteNovel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia, Neurology, vol.87, 1, 2016,pp 65-70
2010Patient autoantibodies deplete postsynaptic muscle-specific kinase leading to disassembly of the ACh receptor scaffold and myasthenia gravis in miceCole, Rebecca; Gervasio, Othon; Ghazanfari, Nazanin; Ngo, Shyuan; Phillips, William; Reddel, Stephen; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; Concord Clinical School: ANZAC Research InstitutePatient autoantibodies deplete postsynaptic muscle-specific kinase leading to disassembly of the ACh receptor scaffold and myasthenia gravis in mice, Journal of Physiology, vol.588, 17,pp 3217-3229
2017Postnatal Development of Spasticity Following Transgene Insertion in the Mouse (beta)IV Spectrin Gene (SPTBN4)Das, Shannon; Kichkin, Eva; Lovicu, Frank; Phillips, William; Shu, Daisy; Visvanathan, Archunan; Blair, Ian P.; McCann, Emily P.; Reddel, Stephen; Williams, Kelly; Zhang, Katharine Y; School of Medical Sciences: Bosch Institute; School of Medical Sciences: Physiology; School of Medical Sciences: Anatomy & Histology; School of Medical Sciences: Physiology; SAHCS: Clinical Ophthalmology and Eye Health; PsychologyPostnatal Development of Spasticity Following Transgene Insertion in the Mouse (beta)IV Spectrin Gene (SPTBN4), Journal of Neuromuscular Diseases, vol.4, 2, 2017,pp 159-164
2006Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.Huttner, I; Kennerson, Marina; Nicholson, Garth; Reddel, Stephen; Radovanovic, D.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteProof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease., NEUROLOGY 2005, vol.67,(11),2006,pp 2016-2021
2013Pyridostigmine but not 3,4-diaminopyridine exacerbates ACh receptor loss and myasthenia induced in mice by muscle specific kinase autoantibodyGhazanfari, Nazanin; Morsch, Marco; Phillips, William; Reddel, Stephen; Toyka, Klaus; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: PhysiologyPyridostigmine but not 3,4-diaminopyridine exacerbates ACh receptor loss and myasthenia induced in mice by muscle specific kinase autoantibody, The Journal of Physiology, vol.591, 10, 2013,pp 2747-2762
2016Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosisBarnes, Elizabeth; Barnett, Michael; Brilot-Turville, Fabienne; Dale, Russell; Fung, Victor; Hardy, Todd; Henderson, Andrew Patrick David; Merheb, Vera; Nosadini, Margherita; Parratt, John Douglas; Ramanathan, Sudarshini; Reddel, Stephen; Tantsis, Esther; Vucic, Steve; Alper, Gulay; Benson, Leslie A; Gorman, Mark P; Leventer, Richard J; Prelog, Kristina; Riney, Catherine J; NH&MRC Clinical Trials Centre; Central Clinical School: Inst. of Clinical Neurosciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); School of Medical Sciences: Pharmacology; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Concord Clinical School: ANZAC Research Institute; Children's Hospital Westmead: Childrens Medical Research Ins; Western Clinical School: Medicine (Westmead)Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis, Multiple Sclerosis Journal, vol.22, 4, 2016,pp 470-482
2013Sequence of Age-Associated Changes to the Mouse Neuromuscular Junction and the Protective Effects of Voluntary ExerciseCheng, Anson; Ghazanfari, Nazanin; Morsch, Marco; Murata, Yui; Phillips, William; Reddel, Stephen; Not known; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: Physiology; School of Medical Sciences: PhysiologySequence of Age-Associated Changes to the Mouse Neuromuscular Junction and the Protective Effects of Voluntary Exercise, PLoS One, vol.8, 7, 2013,pp 1-8
2017A systematic checklist approach to immunosuppression risk management: An audit of practice at two clinical neuroimmunology centersHardy, Todd; Reddel, Stephen; Riminton, Sean; Agarwal, Smriti; Coles, Alasdair; Lee, Monique W. M.; Mori, Amelia; Rafferty, Martina; School of Medical Sciences: Pharmacology; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineA systematic checklist approach to immunosuppression risk management: An audit of practice at two clinical neuroimmunology centers, Journal of Neuroimmunology, vol.312, N/A, 2017,pp 4-7
2015Tablet-based screening improves continence management in multiple sclerosisBarnett, Michael; Beadnall, Heidi; Hardy, Todd; Kuppanda, Kushi; O’Connell, Annmaree; Reddel, Stephen; Central Clinical School: Inst. of Clinical Neurosciences; School of Medical Sciences: Brain & Mind Research Institute; School of Medical Sciences: Brain & Mind Research Institute; School of Medical Sciences: Brain & Mind Research Institute; School of Medical Sciences: Brain & Mind Research Institute; Concord Clinical School: ANZAC Research InstituteTablet-based screening improves continence management in multiple sclerosis, Annals of Clinical and Translational Neurology, vol.2, 6, 2015,pp 679-687
2014Therapeutic approaches to disease modifying therapy for multiple sclerosis in adults: An Australian and New Zealand perspective Part 1 Historical and established therapiesBarnett, Michael; Heard, Robert; Parratt, John Douglas; Pollard, John; Reddel, Stephen; Spies, Judith; Boggild, Mike; Brew, B.J. (Bruce); Broadley, Simon; Butzkueven, Helmut; et al, Various; Hodgkinson, Suzanne J.; Kermode, Allan; Lechner-Scott, Jeannette; Macdonell, Richard A.L.; Marriott, Mark; Mason, Deborah F.; Shaw, Cameron P.; Slee, Mark; Central Clinical School: Inst. of Clinical Neurosciences; Western Clinical School: Medicine (Westmead); Central Clinical School: Medicine; Central Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Central Clinical School: MedicineTherapeutic approaches to disease modifying therapy for multiple sclerosis in adults: An Australian and New Zealand perspective Part 1 Historical and established therapies, Journal of Clinical Neuroscience, vol.21, 11, 2014,pp 1835-1846
2014Therapeutic approaches to disease modifying therapy for multiple sclerosis in adults: An Australian and New Zealand perspective Part 2 New and emerging therapies and their efficacyBarnett, Michael; Heard, Robert; Parratt, John Douglas; Pollard, John; Reddel, Stephen; Spies, Judith; Boggild, Mike; Brew, B.J. (Bruce); Broadley, Simon; Butzkueven, Helmut; et al, Various; Hodgkinson, Suzanne J.; Kermode, Allan; Lechner-Scott, Jeannette; Macdonell, Richard A.L.; Marriott, Mark; Mason, Deborah F.; Shaw, Cameron P.; Slee, Mark; Central Clinical School: Inst. of Clinical Neurosciences; Western Clinical School: Medicine (Westmead); Central Clinical School: Medicine; Central Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Central Clinical School: MedicineTherapeutic approaches to disease modifying therapy for multiple sclerosis in adults: An Australian and New Zealand perspective Part 2 New and emerging therapies and their efficacy, Journal of Clinical Neuroscience, vol.21, 11, 2014,pp 1847-1856
2014Therapeutic approaches to disease modifying therapy for multiple sclerosis in adults: An Australian and New Zealand perspective Part 3 Treatment practicalities and recommendationsBarnett, Michael; Heard, Robert; Parratt, John Douglas; Pollard, John; Reddel, Stephen; Spies, Judith; Boggild, Mike; Brew, B.J. (Bruce); Broadley, Simon; Butzkueven, Helmut; et al, Various; Hodgkinson, Suzanne J.; Kermode, Allan; Lechner-Scott, Jeannette; Macdonell, Richard A.L.; Marriott, Mark; Mason, Deborah F.; Shaw, Cameron P.; Slee, Mark; Taylor, Bruce V.; Central Clinical School: Inst. of Clinical Neurosciences; Western Clinical School: Medicine (Westmead); Central Clinical School: Medicine; Central Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Central Clinical School: MedicineTherapeutic approaches to disease modifying therapy for multiple sclerosis in adults: An Australian and New Zealand perspective Part 3 Treatment practicalities and recommendations, Journal of Clinical Neuroscience, vol.21, 11, 2014,pp 1857-1865
2015Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedClarke, Nigel; Cooper, Sandra; Corbett, Alastair; Ghaoui, Roula; Jones, Kristi; Kaur, Simranpreet; Nicholson, Garth; O'Grady, Gina Louise; Sue, Carolyn; Waddell, Leigh Brook; Davis, Mark; Laing, Nigel; Lek, Monkol; Liang, Christina; MacArthur, Daniel; Needham, Merrilee; North, Kathryn; Ong, Royston; Reddel, Stephen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthUse of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned, JAMA Neurology, vol.72, 12, 2015,pp 1424-1432
2016Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Brewer, Megan Hwa; Chaudhry, Rabia; Kennerson, Marina; Menezes, Manoj; Nicholson, Garth; Qi, Jessica; Young, Helen Kathryn; Drew, Alexander P; Farrar, Michelle A; Kidambi, Aditi; Mowat, David; Reddel, Stephen; Ryan, Monique; Subramanian, Gopinath M; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Clinical and Rehabilitation Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Pathology; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3, PLoS Genetics, vol.12, 7, 2016,pp Article number e1006177-N/A