Browsing by Author Kennerson, Marina

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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
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
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
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
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
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.; Züchner, 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
2011Determinants of Serum-Induced SIRT1 Expression in Older Men: The CHAMP StudyBlyth, Fiona; Cumming, Robert; Handelsman, David; Kennerson, Marina; Le Couteur, David; McMahon, Aisling; Naganathan, Vasikaran; Seibel, Markus; Benson, Vicky L.; De Cabo, Rafael; School of Public Health: Public Health; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: CERA; Concord Clinical School: ANZAC Research InstituteDeterminants of Serum-Induced SIRT1 Expression in Older Men: The CHAMP Study, Journals of Gerontology. Series A: Biological Sciences and Medical Sciences, vol.66A, 1, 2011,pp 3-8
2004Dna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4).Kennerson, Marina; Nicholson, Garth; Abel, Annette; Auer-Grumbach, M.; Bennett, Craig L.; Blair, Ian P.; Chance, Phillip; Chen, Ying-Zhang; Cornblath, David R.; De Jonghe, Peter; Dierick, Ines; Fischbeck, Kenneth H.; Griffin, John W.; Huynh, Huy M.; Irobi, J.; Puls, Imke; Rabin, Bruce A.; Timmerman, Vincent; Wagner, K.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteDna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4)., American Journal of Human Genetics, vol.74,(6),2004,pp 1128-1135
2008Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb regionBrewer, Megan; Changi, Febriani; Kennerson, Marina; Nicholson, Garth; Polly, Patsie; Antonellis, Anthony; Fischbeck, Kurt; Confuscius Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteEvidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region, Neurogenetics, vol.9, N/A, 2008,pp 191-195
2002Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathyKennerson, Marina; Nicholson, Garth; Auer-Grumbach, M.; Brahmbhatt, Sonal; Dawkins, Jennifer L.; De Jonghe, P.; Hartung, H.-P; LeGuern, Eric; Timmerman, Vincent; Verhoeven, Kristien; Wagner, K.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteExclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy, Neuromuscular Disorders, vol.12, 7-8,pp 656-658
2010Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyClarke, Nigel; Kennerson, Marina; Nicholson, Garth; North, Kathryn; Susman, Rachel; Vucic, Steve; Webster, Richard; Yang, Nan; Arbuckle, Susan; Biancalana, Valerie; Bitoun, Marc; Carlier, Robert-Yves; Dowling, Jim; Flanigan, Kevin M.; García-Bragado, Federico; Guicheney, Pascale; Ilkovski, Biljana; Malladi, Chandra S; Mayer, Michèle; Quijano-Roy, Susana; Robinson, Phillip James; Romero, Norma; Urtizberea, Jon Andoni; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsExpanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy, Neuromuscular Disorders, vol.20, 4, 2010,pp 229-237
2017Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaKennerson, Marina; Nicholson, Garth; et al, Various; Kurzwelly, Delia; Minnerop, Martina; Peitz, Michael; Rattay, Tim W; Rehbach, Kristina; Reichbauer, Jennifer; Soehn, Anne S.; Tao, Feifei; Wagner, Holger; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteHypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia, Brain, vol.140, 6, 2017,pp 1561-1578
2015Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencingBrewer, Megan Hwa; Kennerson, Marina; Nicholson, Garth; Zhu, Danqing; Ahmad-Annuar, Azlina; Drew, Alexander P; Kidambi, Aditi; Ly, Carolyn; Tey, Shelisa; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineImproved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing, Molecular Genetics & Genomic Medicine, vol.3, 2, 2015,pp 143-154
2003A locus for Hereditary sensory neuropathy with cough and gastroesophageal reflux on Chromosome 3p22-p24Ing, Alvin; Kennerson, Marina; Kok, Cindy; Nicholson, Garth; Pollard, John; Spring, Penelope; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: Medicine; Central Clinical School: MedicineA locus for Hereditary sensory neuropathy with cough and gastroesophageal reflux on Chromosome 3p22-p24, American Journal of Human Genetics, vol.73,(3),2003,pp 632-637
2005Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.Kennerson, Marina; Nicholson, Garth; Walizada, Gina; Hausmanowa-Petrusewicz, I.; Kawulak, M.; Kochanski, A.; Nowakowski, A.; Rowinska-Marcinska, K.; Ryniewicz, B.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: MedicineMild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci., Neurology, vol.64,(3),2005,pp 533-535
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
2010Modafinil Effects during Acute Continuous Positive Airway Withdrawal: A Randomized Crossover Double-Blind Placebo-controlled TrialGrunstein, Ron (Ronald); Kennerson, Marina; Liu, Peter; Marshall, Nathaniel; Rogers, Naomi; Williams, Shaun; Central Clinical School: Woolcock Inst. of Medical Research; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: Medicine; School of Medical Sciences: Brain & Mind Research Institute; Central Clinical School: Woolcock Inst. of Medical ResearchModafinil Effects during Acute Continuous Positive Airway Withdrawal: A Randomized Crossover Double-Blind Placebo-controlled Trial, American Journal of Respiratory and Critical Care Medicine, vol.181, 8,pp 825-831
2016MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsAlbulym, Obaid M; Drew, Alexander Peter; Kennerson, Marina; Nicholson, Garth; Reddel, Stephen; Siddell, Anna; Auer-Grumbach, Michaela; Baloh, Robert H; Connolly, Anne; Harms, Matthew; Pestronk, Alan; Zuchner, Stephan; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteMORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs, Annals of Neurology, vol.79, 3, 2016,pp 419-427