Browsing by Author Nicholson, Garth

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Issue DateTitleAuthor(s)Citation
2016A 1.35A nbsp;Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34`q36.2Brewer, Megan Hwa; Cutrupi, Anthony; Drew, Alexander Peter; Kennerson, Marina; Nicholson, Garth; Concord Clinical School: ANZAC Research Institute; Pharmacy; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteA 1.35A nbsp;Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34`q36.2, Human Genetics, vol.135, 11, 2016,pp 1269-1278
2004Activity Of Partially Inhibited Serine Palmitoyltransferase Is Sufficient For Normal Sphingolipid Metabolism And Viability Of Hsn1 Patient CellsDedov, Vadim; Dedova, Irina; Nicholson, Garth; Merrill, Alfred; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: Anatomy & Histology; Concord Clinical School: ANZAC Research InstituteActivity Of Partially Inhibited Serine Palmitoyltransferase Is Sufficient For Normal Sphingolipid Metabolism And Viability Of Hsn1 Patient Cells, Biochimica et Biophysica Acta, vol.1688,(2),2004,pp 168-175
2005AGE DEPENDENT PENETRANCE OF THREE DIFFERENT SUPEROXIDE DISMUTASE 1 (SOD 1) MUTATIONSAggarwal, A; Nicholson, Garth; Central Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteAGE DEPENDENT PENETRANCE OF THREE DIFFERENT SUPEROXIDE DISMUTASE 1 (SOD 1) MUTATIONS, International Journal of Neuroscience 2005, vol.115,(8),2005,pp 1119-1130
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
2014Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathiesNicholson, Garth; Ahmad-Annuar, Azlina; Drew, Alexander; Kennerson, Marina; Shahrizaila, Nortina; Tey, Shelisa; Concord Clinical School: ANZAC Research InstituteAnalysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies, Neurogenetics, vol.15, 4, 2014,pp 229-235
2013Apparent anticipation in SOD1 familial amyotrophic lateral sclerosisNicholson, Garth; Vucic, Steve; Chio, Adriano; Kiernan, Matthew; Concord Clinical School: ANZAC Research Institute; Western Clinical School: Medicine (Westmead)Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, vol.14, 5, 2013,pp 452-456
2008Association study on glutathione S-transferase omega 1 and 2 and familial ALS.Gopinath, Sumana; Nicholson, Garth; Ammar, Al Chalabi; Andersen, Peter; Fogh, Isabella; Hu, Xun; Powell, John; Shaw, C.E.; Smith, Bradley; van de Giessen, Elsmarieke; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteAssociation study on glutathione S-transferase omega 1 and 2 and familial ALS., Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol.9, 2, 2008,pp 81-84
2005Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.Bassett, Mark; Ing, Alvin; Kok, Cindy; Nicholson, Garth; Pollard, John; Spies, Judith; Spring, Penelope; Bowler, Simon; Cameron, John; Kerlin, Paul; Tuck, Roger; Medicine; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: Medicine; Central Clinical School: Medicine; Central Clinical School: MedicineAutosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24., Brain, vol.128,(12),2005,pp 2797-2810
2003Autosomal dominant inherited neuropathies with prominent sensory loss and mutilationsNicholson, Garth; Auer-Grumbach, M.; De Jonghe, Peter; Hartung, H.-P; Timmerman, Vincent; Verhoeven, Kristien; Wagner, K.; Concord Clinical School: ANZAC Research InstituteAutosomal dominant inherited neuropathies with prominent sensory loss and mutilations, Archives of Neurology, vol.60,(3),2003,pp 329-334
2002Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?Kennerson, Marina; Nicholson, Garth; Auer-Grumbach, M.; De Jonghe, P.; De Vriendt, E.; Hartung, H.-P; Irobi, J.; Plecko, B.; Van Gerwen, V.; Wagner, K.; Zhu, D.; Zimmerman, V.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteAutosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?, Brain, vol.125,(6),2002,pp 1320-1325
2014Axonal excitability in X-linked dominant Charcot Marie Tooth diseaseBurke, David; Howells, James Anthony; Kennerson, Marina; Liang, Christina; Ng, Karl; Nicholson, Garth; Central Clinical School: Medicine; Central Clinical School: Office; Concord Clinical School: ANZAC Research Institute; Northern Clinical School: Kolling Institute; Central Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteAxonal excitability in X-linked dominant Charcot Marie Tooth disease, Clinical Neurophysiology, vol.125, 6, 2014,pp 1261-1269
2015Axonal Ion Channel Dysfunction in C9orf72 Familial Amyotrophic Lateral SclerosisGeevasinga, Nimeshan; Howells, James Anthony; Kiernan, Matthew; Menon, Parvathi; Nicholson, Garth; Vucic, Steve; Western Clinical School: Medicine (Westmead); Central Clinical School: Office; Central Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Concord Clinical School: ANZAC Research Institute; Western Clinical School: Medicine (Westmead)Axonal Ion Channel Dysfunction in C9orf72 Familial Amyotrophic Lateral Sclerosis, JAMA Neurology, vol.72, 1, 2015,pp 49-57
2005BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD StudyNicholson, Garth; et, al; Golbe, L. I.; Karamohamed, S.; Klein, C.; Latourelle, J.C.; Lew, M.; Perlmutter, J. S.; Racette, B. A.; Shill, H.; Wooten, G. F.; Concord Clinical School: ANZAC Research InstituteBDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study, NEUROLOGY 2005, vol.65,(11),2005,pp 1823-1825
2017Calpain inhibition is protective in machado`joseph disease zebrafish due to induction of autophagyBecker, Thomas; Goldsbury, Claire; Mackovski, Nikolce; Nicholson, Garth; Rinkwitz, Silke; Watchon, Maxinne; Cole, Nicholas; Laird, Angela; Svahn, Adam; Yuan, Kristy; School of Medical Sciences: Brain and Mind Centre; School of Medical Sciences: Brain and Mind Centre; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: Brain and Mind Centre; Concord Clinical School: ANZAC Research InstituteCalpain inhibition is protective in machado`joseph disease zebrafish due to induction of autophagy, Journal of Neuroscience, vol.37, 32, 2017,pp 7782-7794
2016CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementiaCole, Nicholas; Nicholson, Garth; Williams, Kelly; et al, Various; Farrawell, Natalie E.; Fifita, Jennifer A.; Hu, Xun; Smith, Bradley; Topp, Simon; Vance, Caroline; Warraich, Sadaf T.; Yang, Shu; Zhang, Katharine Y; School of Medical Sciences: Anatomy & Histology; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteCCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia, Nature Communications, vol.7, N/A, 2016,pp 1-8
2016CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementiaCole, Nicholas; Nicholson, Garth; Williams, Kelly; et al, Various; Farrawell, Natalie E.; Fifita, Jennifer A.; Hu, Xun; Smith, Bradley; Topp, Simon; Vance, Caroline; Warraich, Sadaf T.; Yang, Shu; Zhang, Katharine Y; School of Medical Sciences: Anatomy & Histology; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteCCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia, Nature Communications, vol.7, N/A, 2016,pp 1-8
2005Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.Kennerson, Marina; Nicholson, Garth; Walizada, Gina; Zhu, Danqing; Vance, J. M.; Z├╝chner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: Medicine; Concord Clinical School: MedicineCharcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations., NEUROLOGY 2005, vol.65,(3),2005,pp 496-497
2003CMT with pyramidal featuresKennerson, Marina; Kok, Cindy; Miedema, E; Nicholson, Garth; Vucic, Ostoja (Steve); Zhu, Danqing; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Western Clinical School: Medicine (Westmead); Concord Clinical School: MedicineCMT with pyramidal features, Neurology, vol.60,(4),2003,pp 696-699
2010Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral NeuropathyNicholson, Garth; Antonellis, Anthony; Biesecker, Leslie G.; Cherukuri, Praveen F.; Chu, Kristine; Cruz, Pedro; Green, Eric D.; Hansen, Nancy F.; Hou, Ya-Ming; Igarashi, Takao; Ionasescu, Victor; Iyer, Ram; Liu, Cuiping; Lupski, James; McLaughlin, Heather M.; Mullikin, James C.; NISC Comparative Sequencing Program, -; Pehlivan, Davut; Sakaguchi, Reiko; Searby, Charles; Szigeti, Kinga; Talbot, Kevin N.; Vance, Jefferey M.; Wilson, Thomas E.; Zuchner, Stephan; Concord Clinical School: ANZAC Research InstituteCompound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy, American Journal of Human Genetics, vol.87, 4,pp 560-566
2013Controversies and priorities in amyotrophic lateral sclerosisNicholson, Garth; Vucic, Ostoja (Steve); Benatar, Michael; Brooks, Benjamin; Chio, Adriano; de Carvalho, Mamede; et al, Various; Hardiman, Orla; Ince, Paul; Lin, Cindy; Miller, Robert; Mitsumoto, Hiroshi; Turner, Martin R; Concord Clinical School: ANZAC Research Institute; Western Clinical School: Medicine (Westmead)Controversies and priorities in amyotrophic lateral sclerosis, Lancet Neurology, vol.12, 3, 2013,pp 310-322