Browsing by Author Lamont, Phillipa J.

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Issue DateTitleAuthor(s)Citation
2003Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletionsBrooks, William; Kril, Jillian; Blumbergs, Peter C.; Broe, G. Anthony; Hedges, Philippa; Kwok, John B.J.; Lamont, Phillipa J.; Schofield, Peter R.; Tannenberg, Anthony E.G.; Central Clinical School: Medicine; Central Clinical School: MedicineAlzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions, Brain, vol.126,(4),2003,pp 783-791
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
2003Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneNorth, Kathryn; Bankier, A; Colley, A; Davis, M R; Dixon, J; Gedeon, A; Haan, E; James, D; Jungbluth, H; Kuntzer, T; Laing, Nigel G.; Lamont, Phillipa J.; Muller, C R; Muntoni, C; Nagarajan, L; Oley, C; Quinlivan, R; Sanchez, A; Sewry, C; Tomlinson, P; Walsh, P; Children's Hospital Westmead: Paediatrics & Child HealthPrincipal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene, Neuromuscular Disorders, vol.13,(2),2003,pp 151-157