Browsing by Author Williams, Kelly

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Issue DateTitleAuthor(s)Citation
2007Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Christodoulou, John; Ouvrier, Robert; Banning, Martijn J G; de Brouwer, Arjan P. M.; Donald, Jennifer A; Duley, John; Egmont-Peterson, Michael; Hamel, Ben C J; Lugtenberg, Dorien; Nabuurs, Sander B; Roeffen, Melissa; van Bokhoven, Hans; van Kuilenburg, Andre B P; Weaving, Linda; Wevers, Ron A.; Williams, Kelly; Zoetekouw, Lida; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthArts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1, American Journal of Human Genetics, vol.81,(3),2007,pp 507-518
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
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
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
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
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
2015Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosisNicholson, Garth; Bauer, Denis; Blair, Ian Phillip; Fifita, Jennifer A; McCann, Emily P; O'Brien, Aidan; Williams, Kelly; Concord Clinical School: ANZAC Research InstituteMutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis, Neurobiology of Aging, vol.36, 3, 2015,pp 1602.e1-1602.e2
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
2017A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitroNicholson, Garth; Atkin, Julie; Blair, I; Fifita, Jennifer A; McCann, Emily P; Sundaramoorthy, V; Williams, Kelly; Concord Clinical School: ANZAC Research InstituteA novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol.18, 1-2, 2017,pp 126-133
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
2015Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese originNicholson, Garth; Blair, Ian P.; Duncan, Emma; Fifita, Jennifer A.; Leo, Paul; Marshall, M S; McCann, Emily P.; Rowe, Dominic B.; Williams, Kelly; Zhang, Katharine Y; Concord Clinical School: ANZAC Research InstituteNovel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin, Neurobiology of Aging, vol.36, 12, 2015,pp 3334.e1-3334.e5
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
2017Postnatal Development of Spasticity Following Transgene Insertion in the Mouse (beta)IV Spectrin Gene (SPTBN4)Das, Shannon; Kichkin, Eva; Lovicu, Frank; Phillips, William; Shu, Daisy; Visvanathan, Archunan; Blair, Ian P.; McCann, Emily P.; Reddel, Stephen; Williams, Kelly; Zhang, Katharine Y; School of Medical Sciences: Bosch Institute; School of Medical Sciences: Physiology; School of Medical Sciences: Anatomy & Histology; School of Medical Sciences: Physiology; SAHCS: Clinical Ophthalmology and Eye Health; PsychologyPostnatal Development of Spasticity Following Transgene Insertion in the Mouse (beta)IV Spectrin Gene (SPTBN4), Journal of Neuromuscular Diseases, vol.4, 2, 2017,pp 159-164
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
2014Tobacco outlet density and social disadvantage in New South Wales, AustraliaGreenaway, Mark; Rissel, Chris; Kite, James; Williams, Kelly; School of Public Health: Medicine; School of Public Health: Public HealthTobacco outlet density and social disadvantage in New South Wales, Australia, Tobacco Control, vol.23, 2, 2014,pp 181-182