Browsing by Author Stoll, Marion

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Issue DateTitleAuthor(s)Citation
2015Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaKennerson, Marina; Nicholson, Garth; Stoll, Marion; Charles, Perrine; Coutelier, Marie; Dionne-Laporte, Alexandre; Durr, Alexandra; et al, Various; Goizet, Cyril; Habarou, Florence; Jacoupy, Maxime; Konop, Juliette; Morais, Sara; Tao, Feifei; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteAlteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia, Brain, vol.138, 8, 2015,pp 2191-2205
2017Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional StudyCorbett, Alastair; Bibat, Genila; Chagarlamudi, Hema; Grosmann, Carla; Matichak Stock, Carly; Shapiro, Jay R; Stinson, Nikia; Stoll, Marion; Wagner, Kathryn R; Concord Clinical School: MedicineBone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional Study, Muscle and Nerve, vol.56, 6, 2017,pp 1108-1113
2013Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12Nicholson, Garth; Stoll, Marion; Bricceno, Katherine; Diallo, Oumarou; et al, Various; Johnson, Janel; Landoure, Guida; Lourenco, Charles; Meilleur, Katherine; Rinaldi, Carlo; Sangare, Modibo; Toro, Camilo; Zhu, Peng-Peng; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteHereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12, Human Mutation, vol.34, 10, 2013,pp 1357-1360
2016Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasiaNicholson, Garth; Buckley, Michael F.; Farrar, Michelle; Lee, James; Reddel, Stephen; Roscioli, Tony; Sampaio, Hugo; Stoll, Marion; Teoh, Hooiling; Zhu, Ying; Concord Clinical School: ANZAC Research InstituteNovel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia, Neurology, vol.87, 1, 2016,pp 65-70