Browsing by Author Auer-Grumbach, Michaela

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Issue DateTitleAuthor(s)Citation
2016MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsAlbulym, Obaid M; Drew, Alexander Peter; Kennerson, Marina; Nicholson, Garth; Reddel, Stephen; Siddell, Anna; Auer-Grumbach, Michaela; Baloh, Robert H; Connolly, Anne; Harms, Matthew; Pestronk, Alan; Zuchner, Stephan; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteMORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs, Annals of Neurology, vol.79, 3, 2016,pp 419-427
2013Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaClarke, Nigel; Menezes, Manoj; Oates, Emily; Auer-Grumbach, Michaela; Cottenie, Ellen; et al, Various; Foley, A Reghan; Gonzalez, Michael; Greensmith, Linda; Hafezparast, Majid; Houlden, Henry; Hurles, Matthew; Lek, Monkol; MacArthur, Daniel; Pieber, Thomas R; Rossor, Alexander; Scoto, Mariacristina; Speziani, Fiorella; Strom, Tim M; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia, American Journal of Human Genetics, vol.92, 6, 2013,pp 965-973