Browsing by Author Houlden, Henry

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Issue DateTitleAuthor(s)Citation
2016Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric featuresJohnstone, Daniel; Bassett, Brianna; Bettencourt, C; Chua, Anita; Collingwood, Joanna; et al, Various; Graham, Ross; Heidari, Moones; Houlden, Henry; House, Michael J; Ryten, Mina; School of Medical Sciences: Bosch InstituteBrain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features, Molecular Psychiatry, vol.21, 11, 2016,pp 1599-1607
2016Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric featuresJohnstone, Daniel; Bassett, Brianna; Bettencourt, C; Chua, Anita; Collingwood, Joanna; et al, Various; Graham, Ross; Heidari, Moones; Houlden, Henry; House, Michael J; Ryten, Mina; School of Medical Sciences: Bosch InstituteBrain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features, Molecular Psychiatry, vol.21, 11, 2016,pp 1599-1607
2010Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiencyDale, Russell; Fung, Victor; Grattan-Smith, Padraic; Earl, John W; Houlden, Henry; Melchers, Anna; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Central Clinical School: Inst. of Clinical NeurosciencesFamilial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency, Developmental Medicine and Child Neurology, vol.52, 6, 2010,pp 583-586
2012Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraineDale, Russell; Antony, Jayne; Gardiner, Alice; Houlden, Henry; Children's Hospital Westmead: Paediatrics & Child HealthFamilial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine, Developmental Medicine and Child Neurology, vol.54, 10, 2012,pp 958-960
2010Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipidsNicholson, Garth; Brown, Robert Jr; Eichler, Florian; Hornemann, Thorsten; Houlden, Henry; Laura, Matilde; Niederkofler, Vera; Penno, Anke; Reilly, Mary; Rentsch, Katharina; Stoeckli, Esther; Von Eckardstein, Arnold; Concord Clinical School: ANZAC Research InstituteHereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids, Journal of Biological Chemistry, vol.285, 15,pp 11178-11187
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
2015Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Clarke, Nigel; Menezes, Manoj; North, Kathryn; Oates, Emily; Rodriguez, Michael; et al, Various; Gonzalez, Michael; Houlden, Henry; Liu, Yang; Murphy, Sinead; Phadke, Rahul; Rossor, Alexander; Salter, Hannah; Schule, Rebecca; Scoto, Mariacristina; Sewry, Caroline A; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; AnaesthesiaPhenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2, Brain, vol.138, 2, 2015,pp 293-310
2013Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathyMenezes, Manoj; Anderson, Janice; Blake, Julian; Brandner, Sebastian; Cottenie, Ellen; Dick, David; Houlden, Henry; Jaunmuktane, Zane; Morrow, Jasper; Reilly, M; Rossor, Alexander; Yousry, Tarek; Children's Hospital Westmead: Paediatrics & Child HealthRapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy, Neuromuscular Disorders, vol.23, 5, 2013,pp 399-403
2014Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Al-Odaib, Ahmad; Burns, Joshua; Carpenter, Kevin; Christodoulou, John; Gold, Wendy; Lek, Monkol; Menezes, Manoj; Ouvrier, Robert; Wang, Min-Xia; Zuchner, Stephen; Abrams, Alexander; Antony, Jayne; Baxter, Peter; Brandner, Sebastian; Broomfield, Alexander; Clayton, P.; Farrell, Michael; Foley, A Reghan; Forman, Eva; Gonzalez, Michael; Hargreaves, Iain; Horvath, Rita; Houlden, Henry; Hughes, Imelda; Jungbluth, Heinz; King, Mary D.; Land, John; Lim, Ming; Lin, Jean-Pierre; Manzur, Adnan; Mathew, Ann; Matsubara, Kazuo; McCullagh, B. Gary; McGarvey, Michael; Megarbane, Andre; Muntoni, Francesco; Ng, Joanne; O’Byrne, James; O'Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Pandraud, Amelie; Phadke, Rahul; Prasad, Manish; Rahman, Shamima; Reilly, Mary; Scherer, Steven; Scoto, Mariacristina; Shah, Ayaz; Straub, Volker; Sugano, Kumiko; Urtizberea, Jon Andoni; Webster, Richard; Yonezawa, Atsushi; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2, Brain, vol.137, Pt 1, 2014,pp 44-56