Browsing by Author Blair, Ian

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Issue DateTitleAuthor(s)Citation
2013Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosisBlair, Ian; Warraich, Sadaf; Atkin, Julie D.; Farg, Manal A.; Soo, Kai Y.; Sundaramoorthy, Vinod; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineAtaxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis, Human Molecular Genetics, vol.22, 4, 2013,pp 717-728
2013ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19Blair, Ian; Fifita, Jennifer; Nicholson, Garth; Williams, Kelly; Belzil, Veronique; Dion, Patrick; Doi, Koichiro; et al, Various; Fukuda, Yoko; Higasa, Koichiro; Kurppa, Kari; Moritoyo, Hiroyoko; Takahashi, Yuji; Toyoda, Atsushi; Yoshimura, Jun; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19, American Journal of Human Genetics, vol.93, 5, 2013,pp 900-905
2012Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisBlair, Ian; Nicholson, Garth; Williams, Kelly; Couthouis, Julien; Diaz, Zamia; Erion, Renske; et al, various; Hart, Michael; Ibrahim, Fadia; Kim, Hyung-Jun; King, Oliver D.; Mojsilovic-Petrovic, Jelena; Nakaya, Tadashi; Panossian, Saarene; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis, Human Molecular Genetics, vol.21, 13, 2012,pp 2899-2911
2015Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological FeaturesBlair, Ian; Nicholson, Garth; Bax, Monique; Fifita, Jennifer A; Kariawasam, Ruvini; Ooi, Lezanne; Yang, Shu; Yerbury, Justin J.; Zhang, Katharine Y; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteEvaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features, Neurotoxicity Research, vol.28, 2, 2015,pp 138-146
2013Exome sequencing to identify de novo mutations in sporadic ALS triosBlair, Ian; Nicholson, Garth; Williams, Kelly; Chesi, Alessandra; Couthouis, Julien; Crabtree, Gerald R.; Elias, Laura; Fasolino, Maria; Fifita, Jennifer; Gitler, Aaron D.; Glass, Jonathan D.; Jovicic, Ana; Kelly, Crystal; King, Oliver D.; Maragakis, Nicholas J.; Polak, Meraida; Raphael, Alya R.; Reed, Robin; Staahl, Brett; Yamazaki, Tomohiro; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteExome sequencing to identify de novo mutations in sporadic ALS trios, Nature Neuroscience, vol.16, 7, 2013,pp 851-856
2010FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysisBlair, Ian; Nicholson, Garth; Thoeng, Annora; Warraich, Sadaf; Blumbergs, Peter C.; Durnall, Jennifer; Kiernan, Matthew C.; Manavis, Jim; Vucic, Steve; Williams, Kelly; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: Physiology; Concord Clinical School: MedicineFUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis, Journal of Neurology, Neurosurgery and Psychiatry, vol.81, 6,pp 639-645
2010Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.Blair, Ian; Nicholson, Garth; Warraich, Sadaf; Yang, Shu; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineFused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein., The International Journal of Biochemistry & Cell Biology, vol.42, 9,pp 1408-1411
2011Molecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic StudiesBlair, Ian; Drew, A P; Nicholson, Garth; Concord Clinical School: Medicine; Medicine; Concord Clinical School: ANZAC Research InstituteMolecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic Studies, Current Molecular Medicine, vol.11, 8, 2011,pp 650-665
2012Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomeraseBlair, Ian; Warraich, Sadaf; Williams, Kelly; Atkin, Julie D.; Farg, Manal A.; Horne, Malcolm; Orian, Jacqueline; Pham, Hong; Soo, Kai Y.; Walker, Adam K.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteMutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase, Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, vol.33, 12, 2012,pp 2855-2868
2014Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish CellsAcosta, Jamie; Badrock, Andrew; Blair, Ian; Cole, Nicholas; Don, Emily; Fifita, Jennifer; Fraser, Stuart; Goldsbury, Claire; Laird, Angela Susan; Nicholson, Garth; Winnick, Claire; Hall, Thomas E; School of Medical Sciences: Brain & Mind Research Institute; School of Medical Sciences: Bosch Institute; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: Anatomy & Histology; School of Medical Sciences: Anatomy & Histology; Concord Clinical School: Medicine; Physiology; School of Medical Sciences: Brain & Mind Research Institute; School of Medical Sciences: Brain & Mind Research Institute; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: PhysiologyMutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells, PloS One, vol.9, 6, 2014,pp 1-9
2013Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosisBlair, Ian; Nicholson, Garth; Pamphlett, Roger; Warraich, Sadaf; Williams, Kelly; Fifita, Jennifer; Yang, Shu; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: Pathology; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteMutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis, Neurobiology of Aging, vol.34, 9, 2013,pp 2235.e7-2235.e10
2012Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosisBlair, Ian; Nicholson, Garth; Williams, Kelly; Solski, Jennifer; Yang, Shu; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteMutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis, Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, vol.33, 1, 2012,pp 210.e9-210.e10
2012Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosisBlair, Ian; Nicholson, Garth; Williams, Kelly; Solski, Jennifer; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteMutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis, Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, vol.33, 7, 2012,pp 1488.e15-1488.316
2009Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6Blair, Ian; Nicholson, Garth; De Vos, Kurt; et al, various; Hortobagyi, Tibor; Hu, Xun; Nishimura, Agnes; Rogelj, Boris; Ruddy, Deborah; Smith, Bradley; Sreedharan, Jameen; Vance, Caroline; Wright, Paul; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteMutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6, Science, vol.323, 5918,pp 1208-1211
2012A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosisBlair, Ian; Luquin, Natasha; Nicholson, Garth; Pamphlett, Roger; Williams, Kelly; Fernando, Ruvini; Solski, Jennifer; Yang, Shu; Concord Clinical School: Medicine; School of Medical Sciences: Anatomy & Histology; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: Pathology; Concord Clinical School: ANZAC Research InstituteA novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, vol.13, 5, 2012,pp 465-470
2009A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindredBlair, Ian; Nicholson, Garth; Thoeng, Annora; Warraich, Sadaf; Durnall, Jennifer; Williams, K; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; School of Medical Sciences: Physiology; Concord Clinical School: MedicineA novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred, Journal of Neurology, Neurosurgery and Psychiatry, vol.80, 11, 2009,pp 1286-1288
2013Pathophysiological insights into ALS with C9ORF72 expansionsBlair, Ian; Nicholson, Garth; Vucic, Steve; Williams, Kelly; Durnall, Jennifer; Fifita, Jennifer; Kiernan, Matthew C.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Western Clinical School: Medicine (Westmead); Concord Clinical School: ANZAC Research InstitutePathophysiological insights into ALS with C9ORF72 expansions, Journal of Neurology, Neurosurgery, and Psychiatry, vol.84, 8, 2013,pp 931-935
2010Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron diseaseBlair, Ian; Barcikowsk, Maria; Brooks, William; Coupland, Kirsten; Dobson-Stone, Carol; Halliday, Glenda; Karlstrom, Helena; Kwok, John; Loy, Clement; Luty, Agnes; Maruszak, Aleksandra; Mather, Karen A; Panegyres, Peter; Sachdev, Perminder; Schofield, Peter R.; Sobow, Tomasz; Tchorzewska, Joanna; Williams, Kelly; Zekanowski, Cezary; Concord Clinical School: ANZAC Research InstituteSigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease, Annals of Neurology, vol.68, 5,pp 639-649
2008TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisBlair, Ian; Nicholson, Garth; Ackerley, Steven; Buratti, Emanuele; Durnall, Jennifer; et, al; Hu, Xun; Rogelj, Boris; Sreedharan, Jameen; Tripathi, Vineeta; Vance, Caroline; Williams, Kelly; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteTDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis, Science, vol.319,(5870),2008,pp 1668-1672
2010TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseasesBlair, Ian; Nicholson, Garth; Warraich, Sadaf; Yang, Shu; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineTDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases, The International Journal of Biochemistry & Cell Biology, vol.42, 10,pp 1606-1609