Browsing by Author Kaler, Stephen

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 3 of 3
Issue DateTitleAuthor(s)Citation
2012Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathyKennerson, Marina; Donsante, Anthony; Garbern, James; Kaler, Stephen; Mercer, Julian; Yi, Ling; Concord Clinical School: ANZAC Research InstituteAltered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy, Human Molecular Genetics, vol.21, 8, 2012,pp 1794-1807
2010Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor NeuropathyChu, Shannon; Kennerson, Marina; Kowlaski, Bartosz; Nicholson, Garth; Almeida-Souza, Leonardo; Baets, Jonathan; et al, various; Fischer, Dirk; Kaler, Stephen; Llanos, Roxana; Mercer, Julian; Speck-Martins, Carlos; Takata, Reinaldo; Tang, Jingrong; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteMissense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy, American Journal of Human Genetics, vol.86, 3,pp 343-352
2012Molecular and Biochemical Characterization of a Unique Mutation in CCS, the Human Copper Chaperone to Superoxide DismutaseChristodoulou, John; Brendel, Cornelia; Donsante, Anthony; Elpeleg, Orly; Gartner, Jutta; Hicks, Julia; Huppke, Peter; Kaler, Stephen; Korenke, Georg Christof; Marquardt, Iris; Moller, Lisbeth Birk; Steinbach, Peter; Wilson, Callum; Yi, Ling; Children's Hospital Westmead: Paediatrics & Child HealthMolecular and Biochemical Characterization of a Unique Mutation in CCS, the Human Copper Chaperone to Superoxide Dismutase, Human Mutation, vol.33, 8, 2012,pp 1207-1215