Browsing by Author Kaur, Simranpreet

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Issue DateTitleAuthor(s)Citation
2015Expanding the phenotype of GMPPB mutationsClarke, Nigel; Corbett, Alastair; Ghaoui, Roula; Lek, Monkol; Reddel, Stephen; Sue, Carolyn; Waddell, Leigh Brook; Cabrera-Serrano, Macarena; Davis, Mark; Johnsen, Russell D; Kaur, Simranpreet; Laing, Nigel G; Lamont, Phillipa J.; Liang, Christina; MacArthur, Daniel; North, Kathryn N; Ravenscroft, Gianina; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the phenotype of GMPPB mutations, Brain, vol.138, Pt 4, 2015,pp 836-844
2016Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyClarke, Nigel; Davis, Ryan; Ghaoui, Roula; Kaur, Simranpreet; Sue, Carolyn; Waddell, Leigh Brook; Yiannikas, Konstantinos; Brewer, Janice M.; Evilä, Anni; Hackman, Peter; Huovinen, Sanna; Jonson, Per Harald; Lek, Monkol; Lindfors, Mikaela; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N.; Palmio, J; Penttilä, Sini; Udd, Bjarne; Vihola, Anna K.; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineMutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy, Neurology, vol.86, 4, 2016,pp 391-398
2015Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spineBest, Heather; Clarke, Nigel; Ilkovski, B; North, Kathryn; Oates, Emily; O'Grady, Gina Louise; Brammah, Susan; Charlton, Amanda; Hoffman, Eric P; Kaur, Simranpreet; Kesari, Akanchha; Punetha, Jaya; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRecessive ACTA1 variant causes congenital muscular dystrophy with rigid spine, European Journal of Human Genetics, vol.23, 6, 2015,pp 883-886
2016TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophyClarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Benavides, Tatiana; Kaur, Simranpreet; Lek, Monkol; MacArthur, Daniel; North, Kathryn N.; Waddell, Leigh; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthTOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy, Neuromuscular Disorders, vol.26, 8, 2016,pp 500-503
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
2014Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth diseaseClarke, Nigel; Menezes, Manoj; Waddell, Leigh Brook; Kaur, Simranpreet; Lenk, Guy; MacArthur, Daniel; Meisler, Miriam H.; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthWhole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease, Neuromuscular Disorders, vol.24, 8, 2014,pp 666-670