Publications list for Associate Professor Marina Kennerson

2013 | 2012 | 2011 | 2010 | 2009 | 2008

2013

   
  • Chaudhry, R., Kidambi, A., Brewer, M., Antonellis, A., Mathews, K., Nicholson, G., Kennerson, M. (2013), Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle & Nerve. 47(6), 922-924. [Abstract]
  • Kennerson, M., Yiu, E., Chuang, D., Kidambi, A., Tso, S., Ly, C., Chaudhry, R., Drew, A., Rance, G., Delatycki, M., Zuchner, S., Ryan, M., Nicholson, G. (2013), A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Human Molecular Genetics. 22(7), 1404-1416. [Abstract]

2012

   
  • Rinaldi, C., Grunseich, C., Sevrioukova, I., Schindler, A., Horkayne-Szakaly, I., Lamperti, C., Landouré, G., Kennerson, M., Burnett, B., Bönnemann, C., Biesecker, L., Ghezzi, D., Zeviani, M., Fischbeck, K. (2012), Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. American Journal of Human Genetics. 91(6), 1095-1102. [Abstract]
  • Shahrizaila, N., Goh, K., Ahmad-Annuar, A., Chaudhry, R., Ly, C., Ryan, M., Nicholson, G., Kennerson, M. (2012), A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A. Muscle & Nerve. 46(3), 454-455. [Abstract]
  • Yi, L., Donsante, A., Kennerson, M., Mercer, J., Garbern, J., Kaler, S. (2012), Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. Human Molecular Genetics. 21(8), 1794-807. [Abstract]
  • McLaughlin, H., Sakaguchi, R., Giblin, W., Wilson, T., Biesecker, L., Lupski, J., Talbot, K., Vance, J., Züchner, S., Lee, Y., Kennerson, M., Hou, Y., Nicholson, G., Antonellis, A. (2012), A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Human Mutation. 33(1), 244-253. [Abstract]

2011

   
  • Le Couteur, D., Benson, V., McMahon, A., Blyth, F., Handelsman, D., Seibel, M., Kennerson, M., Naganathan, V., Cumming, R., de Cabo, R. (2011), Determinants of Serum-Induced SIRT1 Expression in Older Men: The CHAMP Study. Journals of Gerontology. Series A: Biological Sciences & Medical Sciences. 66(1), 3-8. [Abstract]

2010

   
  • Brewer, M., Chaudhry, R., McDowall, K., Chu, S., Kowalski, B., Polly, P., Nicholson, G., Kennerson, M. (2010), X-linked CMT: genes and gene loci in an Australian cohort. Neurogenetics. 11(2), 267-9. [Abstract]
  • Williams, S., Marshall, N., Kennerson, M., Rogers, N., Liu, P., Grunstein, R. (2010), Modafinil Effects during Acute CPAP Withdrawal: A Randomized Crossover Double-blind Placebo-controlled Trial. American journal of respiratory and critical care medicine. 181(8), 825-31. [Abstract]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Flanigan, K., Arbuckle, S., Malladi, C., Robinson, P., Vucic, S., Mayer, M., Romero, N., Urtizberea, J., García-Bragado, F., Guicheney, P., Bitoun, M., Carlier, R., North, K. (2010), Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders. 20(4), 229-237. [Abstract]
  • Chiu, C., Bagnall, R., Ingles, J., Yeates, L., Kennerson, M., Donald, J., Jormakka, M., Lind, J., Semsarian, C. (2010), Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy A Genome-Wide Analysis. Journal of the American College of Cardiology. 55(11), 1127-1135. [Abstract]
  • Kennerson, M., Nicholson, G., Kaler, S., Kowalski, B., Mercer, J., Tang, J., Llanos, R., Chu, S., Takata, R., Speck-Martins, C., Baets, J., Almeida-Souza, L., Fischer, D., Timmerman, V., Taylor, P., Scherer, S., Ferguson, T., Bird, T., De Jonghe, P., Feely, S., Shy, M., Garbern, J. (2010), Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy. American Journal of Human Genetics. 86(3), 343-352. [Abstract]

2009

   
  • Claeys, K., Züchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J., Bienfait, H., Lammens, M., Nelis, E., Baets, J., De Vriendt, E., Berneman, Z., De Veuster, I., Vance, J., Nicholson, G., Timmerman, V., De Jonghe, P. (2009), Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain : a journal of neurology. 132(7), 1741-52. [Abstract]
  • Duong, T., Witting, P., Antao, S., Parry, S., Kennerson, M., Lai, B., Vogt, S., Lay, P., Harris, H. (2009), Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re-oxygenation injury. Journal of neurochemistry. 108(5), 1143-1154. [Abstract]
  • Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M., Garbern, J. (2009), X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. Neurology. 72(3), 246-252. [Abstract]
  • Nicholson, G., Kennerson, M., Brewer, M., Garbern, J., Shy, M. (2009), Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes. In: Inherited Neuromuscular Diseases. (pp.201-206).United States: Springer New York LLC. [Abstract]

2008

   
  • Brewer, M., Changi, F., Antonellis, A., Fischbeck, K., Polly, P., Nicholson, G., Kennerson, M. (2008), Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics. 9(3), 191-5. [Abstract]