Browsing by Author Laura, Matilde

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Issue DateTitleAuthor(s)Citation
2017221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10`12 June 2016, Naarden, The NetherlandsBurns, Joshua; Laura, Matilde; Pareyson, Davide; Reilly, Mary M.; Shy, Michael; Singh, Dishan S.; Clinical and Rehabilitation Sciences221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10`12 June 2016, Naarden, The Netherlands, Neuromuscular Disorders, vol.27, N/A, 2017,pp 1138-1142
2015CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysisBurns, Joshua; Bacon, C; Bundy, B; Day, J; Feely, S.; Finkel, R S; Fridman, Vera; Grider, T; Herrmann, David; Kirk, C A; Laura, Matilde; Li, J; Lloyd, Thomas; Moroni, I; Muntoni, Francesco; Pagliano, E; Pareyson, Davide; Piscosquito, G; Ramchandren, S; Reilly, M; Scherer, Steven; Shy, Michael; Shy, Rosemary; Siskind, C; Sumner, Charlotte; Yum, Sabrina; Zuchner, Stephan; Clinical and Rehabilitation SciencesCMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis, Journal of Neurology, Neurosurgery and Psychiatry, vol.86, 8, 2015,pp 873-878
2017Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)Burns, Joshua; Day, John; et al, Various; Laura, Matilde; Lewis, Richard Alan; Li, Jun; Panosyan, Francis B.; Pisciotta, Chiara; Piscosquito, G; Rossor, Alexander; Yum, Sabrina; Clinical and Rehabilitation SciencesCross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1), Neurology, vol.89, 9, 2017,pp 927-935
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
2017Natural history of Charcot-Marie-Tooth disease during childhoodBray, Paula; Burns, Joshua; Cornett, Kayla; Halaki, Mark; Menezes, Manoj; Bhandari, Trupti; Eichinger, Kate; Estilow, Tim; Finkel, Richard S.; Herrmann, David; Laura, Matilde; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pareyson, Davide; Reilly, Mary M.; Shy, Michael; Shy, Rosemary; Yum, Sabrina; School of Medical Sciences: School of Medical Sciences; Clinical and Rehabilitation Sciences; Physiotherapy; Exercise Health and Performance; Clinical and Rehabilitation SciencesNatural history of Charcot-Marie-Tooth disease during childhood, Annals of Neurology, vol.82, 3, 2017,pp 353-359
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