Browsing by Author Reilly, Mary

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Issue DateTitleAuthor(s)Citation
2017Differentiating lower motor neuron syndromesGarg, Nidhi; Howells, James Anthony; Huynh, William; Kiernan, Matthew; Matamala, Jose Manuel; Park, Susanna; Pollard, John; Spies, Judith; Vucic, Steve; Yiannikas, Con; Cornblath, David R.; Krishnan, Arun V.; Reilly, Mary; School of Medical Sciences: Brain and Mind Centre; Central Clinical School: Office; School of Medical Sciences: Brain and Mind Centre; Central Clinical School: Medicine; School of Medical Sciences: Brain and Mind Centre; School of Medical Sciences: Physiology; Central Clinical School: Medicine; Central Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Northern Clinical School: MedicineDifferentiating lower motor neuron syndromes, Journal of Neurology, Neurosurgery and Psychiatry, vol.88, 6, 2017,pp 474-483
2015Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ geneBurns, Joshua; Bacon, C; Day, J; Feely, SME; Finkel, R S; Grider, T; Herrmann, David; Laura, Matilde; Li, J; Lloyd, Thomas; Moroni, Isabella; Muntoni, Francesco; Pareyson, Davide; Piscosquito, G; Ramchandren, Sindhu; Reilly, Mary; Sanmaneechai, Oranee; Scherer, Steven; Shy, Michael; Shy, Rosemary; Siskind, C; Sumner, Charlotte; Yum, Sabrina; Clinical and Rehabilitation SciencesGenotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene, Brain, vol.138, 11, 2015,pp 3180-3192
2010Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipidsNicholson, Garth; Brown, Robert Jr; Eichler, Florian; Hornemann, Thorsten; Houlden, Henry; Laura, Matilde; Niederkofler, Vera; Penno, Anke; Reilly, Mary; Rentsch, Katharina; Stoeckli, Esther; Von Eckardstein, Arnold; Concord Clinical School: ANZAC Research InstituteHereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids, Journal of Biological Chemistry, vol.285, 15,pp 11178-11187
2012Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth diseaseBurns, Joshua; Ouvrier, Robert; Acsadi, Gyula; Eichinger, Kate; Estilow, Tim; Finkel, Richard; Laura, Matilde; Muntoni, Francesco; Pareyson, Davide; Reilly, Mary; Shy, Michael E; Shy, Rosemary R; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthSymmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease, Clinical Biomechanics, vol.27, 7, 2012,pp 744-747
2013Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth diseaseBurns, Joshua; Menezes, Manoj; Eichinger, Kate; Estilow, Tim; Finkel, Richard; Herrmann, David; Laura, Matilde; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pareyson, Davide; Reilly, Mary; Shy, Michael; Shy, Rosemary R; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthTransitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease, Journal of the Peripheral Nervous System, vol.18, 2, 2013,pp 177-180
2014Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Al-Odaib, Ahmad; Burns, Joshua; Carpenter, Kevin; Christodoulou, John; Gold, Wendy; Lek, Monkol; Menezes, Manoj; Ouvrier, Robert; Wang, Min-Xia; Zuchner, Stephen; Abrams, Alexander; Antony, Jayne; Baxter, Peter; Brandner, Sebastian; Broomfield, Alexander; Clayton, P.; Farrell, Michael; Foley, A Reghan; Forman, Eva; Gonzalez, Michael; Hargreaves, Iain; Horvath, Rita; Houlden, Henry; Hughes, Imelda; Jungbluth, Heinz; King, Mary D.; Land, John; Lim, Ming; Lin, Jean-Pierre; Manzur, Adnan; Mathew, Ann; Matsubara, Kazuo; McCullagh, B. Gary; McGarvey, Michael; Megarbane, Andre; Muntoni, Francesco; Ng, Joanne; O’Byrne, James; O'Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Pandraud, Amelie; Phadke, Rahul; Prasad, Manish; Rahman, Shamima; Reilly, Mary; Scherer, Steven; Scoto, Mariacristina; Shah, Ayaz; Straub, Volker; Sugano, Kumiko; Urtizberea, Jon Andoni; Webster, Richard; Yonezawa, Atsushi; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2, Brain, vol.137, Pt 1, 2014,pp 44-56
2012Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disabilityBurns, Joshua; Lek, Monkol; Ouvrier, Robert; Acsadi, Gyula; Estilow, Tim; Finkel, Richard; Laura, Matilde; Muntoni, Francesco; Pallant, Julie; Pareyson, Davide; Reilly, Mary; Shy, Michael E; Shy, Rosemary R; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthValidation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability, Annals of Neurology, vol.71, 5, 2012,pp 642-652