Browsing by Author Muntoni, Francesco

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
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
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
2004Genotype-Phenotype Correlations In Nemaline Myopathy Caused By Mutations In The Genes For Nebulin And Skeletal Muscle Alpha-Actin.North, Kathryn; Beggs, Alan H.; Goebel, Hans H; Laing, Nigel G; Muntoni, Francesco; Nowak, Kristen J; Pelin, Katarina; Romero, Norma B; Wallgren-Pettersson, Carina; Children's Hospital Westmead: Paediatrics & Child HealthGenotype-Phenotype Correlations In Nemaline Myopathy Caused By Mutations In The Genes For Nebulin And Skeletal Muscle Alpha-Actin., Neuromuscular Disorders, vol.14,(8-9),2004,pp 461-470
2004Magnetic Resonance Imaging Of Muscle In Nemaline Myopathy.North, Kathryn; Allsop, Joanna; Bydder, Graeme; Chattopadhyay, Arijit; Counsell, Serena; Jungbluth, H; Laing, Nigel G; Mercuri, Eugenio; Muntoni, Francesco; Pelin, Katarina; Sewry, C; Wallgren-Pettersson, Carina; Children's Hospital Westmead: Paediatrics & Child HealthMagnetic Resonance Imaging Of Muscle In Nemaline Myopathy., Neuromuscular Disorders, vol.14,(N/A),2004,pp 779-784
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
2007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanNorth, Kathryn; Smith, Janine; Abbs, Stephen; Brockington, Martin; Brown, Susan C; Bushby, Kate; Clement, Emma; Feng, Lucy; Godfrey, Caroline; Jimenez-Mallebrera, Cecilia; Kinali, Maria; Manzur, Eugenio; Mein, Rachael; Mercuri, Eugenio; Muntoni, Francesco; Quinlivan, Ros; Robb, Stephanie; Sewry, Caroline A; Straub, Volker; Talim, Beril; Topalogu, Haluk; Torelli, Silvia; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsRefining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan, Brain (2005), vol.130,(10),2007,pp 2725-2735
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