Browsing by Author Finkel, Richard

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Issue DateTitleAuthor(s)Citation
2014Ataluren treatment of patients with nonsense mutation dystrophinopathyJones, Kristi; Barohn, Richard; Bushby, Kate; Campbell, Craig; Comi, Giacomo; Connolly, Anne; Day, John; et al, Various; Finkel, Richard; Flanigan, Kevin; Goemans, Nathalie; Wong, Brenda; Childrens Hospital Westmead: Paediatrics & Child HealthAtaluren treatment of patients with nonsense mutation dystrophinopathy, Muscle and Nerve, vol.50, 4, 2014,pp 477-487
2016Phenotypic variability of childhood Charcot-Marie-Tooth diseaseBray, Paula; Burns, Joshua; Cornett, Kayla; Halaki, Mark; Menezes, Manoj; Bhandari, Trupti; Eichinger, Kate; Estilow, Tim; Finkel, Richard; Herrmann, David; Laura, Matilde; Maria Foscan, Maria Foscan; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pareyson, Davide; Reilly, M; Shy, Michael; Shy, Rosemary; Sowden, Janet; Yum, Sabrina W; School of Medical Sciences: School of Medical Sciences; Clinical and Rehabilitation Sciences; Physiotherapy; Exercise Health and Performance; Clinical and Rehabilitation SciencesPhenotypic variability of childhood Charcot-Marie-Tooth disease, JAMA Neurology, vol.73, 6, 2016,pp 645-651
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
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