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Associate Professor Marina Kennerson

Principal Research Fellow & Associate Professor
Medicine, Concord Clinical School
ANZAC Research Institute

Member of China Studies Centre

Telephone +61 2 9767 9119
Fax +61 2 9767 9101

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Research interests

My research interests are to identifying genes for inherited peripheral neuropathies. These disorders affect the motor and sensory component of the peripheral nervous system and our research is driven to identify the gene mutations that cause the premature death of neurons (neurodegenration) in these disorders.

My research relies on the ascertainment of families for genetic linkage studies and using resources of the Human Genome Project to map chromosomal regions in the families and to find the gene mutation. Our laboratory stays abreast of the latest genome technologies and uses state-of-the-art mutation scanning methods and next generation sequencing strategies. The laboratory has expertise in genetic linkage analysis, molecular biology, next generation sequencing, bioinformatics and gene mapping strategies.

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Current research students

Project title Research student
Correcting GJB1 gene dysregulation in X-linked Charcot-Marie-Tooth neuropathy Bianca GROSZ
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International links

Malaysia

(University of Malaya) Collaboration with Dr Azlina Ahmad-Annuar (Department of Biomedical Science, Faculty of Medicine) and Dr Nortina Shahrizaila (Department of Medicine, Faculty of Medcinie) to map genes for inherited peripheral neuropathies in Malaysian families.

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Selected grants

2014

  • EVOS FL Auto cell imaging system; Nicholson G, Clark G, Zhou H, Jessup W, Le Couteur D, McMahon A, McLachlan A, Allan C, Handelsman D, Hart D, Walters K, Kritharides L, Kockx M, Kennerson M, Cooper M, Seibel M, Verma N, Silveira P, Fromm P, Simanainen U, Cogger V, Zheng Y; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2013

  • Automacs Pro Seperator; Hart D, Handelsman D, Le Couteur D, Nicholson G, Kritharides L, Zhou H, Clark G, Kennerson M, Allan C, Walters K, Cogger V, Simanainen U, Zheng Y, Seibel M; DVC Research/Equipment Grant.
  • IVIS Lumina II in vivo Imaging System; Seibel M, Handelsman D, Le Couteur D, Hart D, Nicholson G, Freedman B, Kritharides L, Jessup W, Zhou H, Clark G, Kennerson M, Allan C, Walters K, Cogger V, McMahon A, Simanainen U, Kockx M, Speranza T, Zheng Y; DVC Research/Equipment Grant.
  • Gene Identification for Inherited Peripheral Neuropathies by applying Next Generation Sequencing; Kennerson M, Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • Discovering Genes for X-linked Charcot-Marie-Tooth Neuropathy; Nicholson G, Kennerson M; National Health and Medical Research Council (NHMRC)/Project Grants.
  • MOLECULAR IMAGER CHEMIDoc XRS SYSTEM & MINI P ROTEAN GEL/TRANSBLOT Cell SYSTEM (BIO-RAD. AUSTRALIA; Allan C, Handelsman D, Zhou H, Seibel M, Kennerson M, Nicholson G, Blair I, Le Couteur D, McMahon A, Hart D, Clark G, Simanainen U; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2010

  • The Lunar PIXImus II DEXA Scanner; Zhou H, Seibel M, Handelsman D, Le Couteur D, Nicholson G, Clarke S, Robertson G, van Zandwijk N, Freedman B, Kennerson M, Allan C, Walters K, Cogger V, Blair I, Reid G, Simanainen U; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2009

  • Stereomicroscope-Imaging Workstation; Allan C, Seibel M, Handelsman D, Le Couteur D, Kennerson M, Robertson G, Walters K, Cogger V, Nicholson G, Zhou H, Blair I, Simanainen U, McMahon A; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2008

  • Sirtuins and the molecular epidemiology of frailty in older men; De Cabo R, Cumming R, Le Couteur D, Kennerson M, De Cabo R, Naganathan V, Sambrook P; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Mutation analysis of nevel candidate genes for X-linked Charcot Marine tooth (CMTX3) neuropathy; Kennerson M, Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.

2007

  • Leica CM3050 S cryostat; Seibel M, Blair J, Dunstan C, Handelsman D, Nicholson G, Kennerson M, Lowe H, Witting P, Allan C, Zhou H; University of Sydney/Major Equipment Grant.
  • Finding the gene mutations causing X-linked Charcot-Marie-Tooth neuropathy; Kennerson M; University of Sydney/Bridging Support.
  • Finding the gene causing X-linked Charcot-Marie-Tooth (CMTX3) neuropathy; Kennerson M, Nicholson G; Muscular Dystrophy Association of New South Wales/Research Support.

2006

  • Cell culture quarantine and storage facility plus assessories; Dunstan C, Witting P, Myers S, Handelsman D, Seibel M, Nicholson G, Zhou H, Kennerson M, Allan C, Freedman B, Le Couteur D, Muller M; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • KODAK Image Station 2000mm Multi-Modal Imager; Seibel M, Nicholson G, Witting P, Le Couteur D, Freedman B, Dunstan C, Blair J, Kennerson M, Myers S, Muller M; University of Sydney/Major Equipment Grant.

2005

  • Victor 3 Multi-label Plate Reader; Witting P, Handelsman D, Le Couteur D, Nicholson G, Seibel M, Kril J, Kritharides L, Kennerson M; University of Sydney/Major Equipment Grant.
  • Bio-Rad iCycler iQ5 Real-Time PCR & Mutation detection system; Seibel M, Le Couteur D, Freedman B, Nicholson G, Handelsman D, Kennerson M, Dunstan C, Allan C, Witting P, Kril J, Muller M; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2004

  • OPTIMAX TLX 120 ultracentrifuge; Witting P, Handelsman D, Nicholson G, Lay P, Kritharides L, Kril J, Le Couteur D, Lowe H, Kennerson M; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2003

  • Molecular genetics of hereditary motor and sensory neuropathy with pyramidal signs; Nicholson G, Kennerson M; National Health and Medical Research Council (NHMRC)/Project Grants.

2001

  • Genetic bases for Charcot-Marie-Tooth and Hereditary Sensory type 1 Neuropathies; Nicholson G, Kennerson M; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Finding the gene for hereditary sensory neuropathy: a new cause of sensory neurone degeneration; Nicholson G, Kennerson M; Rebecca L Cooper Medical Research Foundation/Medical Research Foundation FPRx1140 SCHx1893.

2000

  • Gene mutation analysis in parkinsons disease using real-time PCR; Nicholson G, Kennerson M; Clive & Vera Ramaciotti Foundation/Research Grants.
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Selected publications

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Book Chapters

  • 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 Carmen Espinos, Vicente Felipo, Francesc Palau (Eds.), Inherited Neuromuscular Diseases, (pp. 201-206). Dordrecht: Springer Science+Business Media. [More Information]

Journals

  • Kennerson, M., Corbett, A., Ellis, M., Perez-Siles, G., Nicholson, G. (2018). A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. Brain, 141(9), e66. [More Information]
  • Lubomski, M., Hayes, M., Kennerson, M., Ellis, M., Chu, S., Blackie, J., O�Sullivan, J., Nicholson, G. (2018). A novel Parkinson's disease risk variant, p W378R, in the Gaucher's disease GBA gene. Movement Disorders, 33(10), 1662-1664. [More Information]
  • Cutrupi, A., Brewer, M., Nicholson, G., Kennerson, M. (2018). Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. Molecular Genetics & Genomic Medicine, 6(3), 422-433. [More Information]
  • Kanhangad, M., Cornett, K., Brewer, M., Nicholson, G., Ryan, M., Smith, R., Subramanian, G., Young, H., Zuchner, S., Kennerson, M., Burns, J., Menezes, M. (2018). Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. Neurology, 90(19), e1706-e1710. [More Information]
  • Tsai, P., Soong, B., Mademan, I., Huang, Y., Liu, C., Hsiao, C., Wu, H., Liu, T., Liu, Y., Nicholson, G., Kennerson, M., et al (2017). A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain, 140(5), 1252-1266. [More Information]
  • Minnerop, M., Kurzwelly, D., Wagner, H., Soehn, A., Reichbauer, J., Tao, F., Rattay, T., Peitz, M., Rehbach, K., Kennerson, M., Nicholson, G., et al (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain, 140(6), 1561-1578. [More Information]
  • Shahrizaila, N., Noto, Y., Simon, N., Huynh, W., Shibuya, K., Matamala, J., Dharmadasa, T., Devenney, E., Kennerson, M., Nicholson, G., Kiernan, M. (2017). Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy. Clinical Neurophysiology, 128(1), 227-232. [More Information]
  • Razi, S., Cogger, V., Kennerson, M., Benson, V., McMahon, A., Blyth, F., Handelsman, D., Seibel, M., Hirani, V., Naganathan, V., Waite, L., Cumming, R., Le Couteur, D., et al (2017). SIRT1 Polymorphisms and Serum-Induced SIRT1 Protein Expression in Aging and Frailty: The CHAMP Study. Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 72(7), 870-876. [More Information]
  • Drew, A., Cutrupi, A., Brewer, M., Nicholson, G., Kennerson, M. (2016). A 1.35A�Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. Human Genetics, 135(11), 1269-1278. [More Information]
  • Perez-Siles, G., Grant, A., Ellis, M., Ly, C., Kidambi, A., Khalil, M., Llanos, R., La Fontaine, S., Strickland, A., Zuchner, S., Bermeo, S., Neist, E., Speranza, T., Nicholson, G., Kennerson, M., et al (2016). Characterizing the molecular phenotype of an: Atp7aT985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Metallomics, 8(9), 981-992. [More Information]
  • Albulym, O., Kennerson, M., Harms, M., Drew, A., Siddell, A., Auer-Grumbach, M., Pestronk, A., Connolly, A., Baloh, R., Zuchner, S., Reddel, S., Nicholson, G. (2016). MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Annals of Neurology, 79(3), 419-427. [More Information]
  • Tey, S., Ahmad-Annuar, A., Drew, A., Shahrizaila, N., Nicholson, G., Kennerson, M. (2016). Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies. Clinical Genetics, 90(2), 127-133. [More Information]
  • Perez-Siles, G., Ly, C., Grant, A., Drew, A., Yiu, E., Ryan, M., Chuang, D., Tso, S., Nicholson, G., Kennerson, M. (2016). Pathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation. Neurobiology of Disease, 94, 237-244. [More Information]
  • Brewer, M., Chaudhry, R., Qi, J., Kidambi, A., Drew, A., Menezes, M., Ryan, M., Farrar, M., Mowat, D., Subramanian, G., Young, H., Nicholson, G., Kennerson, M., et al (2016). Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genetics, 12(7), 1-16. [More Information]
  • Kennerson, M., Kim, E., Siddell, A., Kidambi, A., Kim, S., Hong, Y., Hwang, S., Chung, K., Choi, B. (2016). X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. Journal of the Peripheral Nervous System, 21(1), 45-51. [More Information]
  • Coutelier, M., Goizet, C., Durr, A., Habarou, F., Morais, S., Dionne-Laporte, A., Tao, F., Konop, J., Stoll, M., Charles, P., Kennerson, M., Nicholson, G., et al (2015). Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain, 138(8), 2191-2205. [More Information]
  • Drew, A., Zhu, D., Kidambi, A., Ly, C., Tey, S., Brewer, M., Ahmad-Annuar, A., Nicholson, G., Kennerson, M. (2015). Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Molecular Genetics & Genomic Medicine, 3(2), 143-154. [More Information]
  • Strickland, A., Schabhuttl, M., Offenbacher, H., Synofzik, M., Hauser, N., Brunner-Krainz, M., Gruber-Sedlmayr, U., Moore, S., Windhager, R., Bender, B., Kennerson, M., et al (2015). Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of Neurology, 262(9), 2124-2134. [More Information]
  • Peeters, K., Bervoets, S., Chamova, T., Litvinenko, I., De Vriendt, E., Bichev, S., Kancheva, D., Mitev, V., Kennerson, M., Timmerman, V., et al (2015). Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies. Human Mutation, 36(3), 287-291. [More Information]
  • Tey, S., Ahmad-Annuar, A., Drew, A., Shahrizaila, N., Nicholson, G., Kennerson, M. (2014). Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies. Neurogenetics, 15(4), 229-235. [More Information]
  • Liang, C., Howells, J., Kennerson, M., Nicholson, G., Burke, D., Ng, K. (2014). Axonal excitability in X-linked dominant Charcot Marie Tooth disease. Clinical Neurophysiology, 125(6), 1261-1269. [More Information]
  • Kennerson, M., Yiu, E., Chuang, D., Kidambi, A., Tso, S., Ly, C., Chaudhry, R., Drew, A., Rance, G., Delatyckl, M., Nicholson, G., et al (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. [More Information]
  • 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 and Nerve, 47(6), 922-924. [More Information]
  • Shahrizaila, N., Goh, K., Ahmad-Annuar, A., Chaudhry, R., Nicholson, G., Kennerson, M., Ly, C., Ryan, M. (2012). A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A. Muscle and Nerve, 46(3), 454-455. [More Information]
  • McLaughlin, H., Sakaguchi, R., Giblin, W., Wilson, T., Biesecker, L., Lupski, J., Talbot, K., Vance, J., Zuchner, S., Lee, Y., Kennerson, M., Nicholson, G., et al (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. [More Information]
  • 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), 1794-1807. [More Information]
  • Rinaldi, C., Grunseich, C., Sevrioukova, I., Schindler, A., Horkayne-Szakaly, I., Lamperti, C., Landoure, G., Kennerson, M., Burnett, B., Bonnemann, C., et al (2012). Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor. American Journal of Human Genetics, 91(6), 1095-1102. [More Information]
  • 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 and Medical Sciences, 66A(1), 3-8. [More Information]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Vucic, S., North, K., et al (2010). Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders, 20(4), 229-237. [More Information]
  • Kennerson, M., Nicholson, G., Kaler, S., Kowlaski, B., Mercer, J., Tang, J., Llanos, R., Chu, S., Takata, R., Speck-Martins, C., et al (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. [More Information]
  • Williams, S., Marshall, N., Kennerson, M., Rogers, N., Liu, P., Grunstein, R. (2010). Modafinil Effects during Acute Continuous Positive Airway Withdrawal: A Randomized Crossover Double-Blind Placebo-controlled Trial. American Journal of Respiratory and Critical Care Medicine, 181(8), 825-831. [More Information]
  • 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. [More Information]
  • Brewer, M., Chaudhry, R., McDowall, K., Chu, S., Kowalski, B., Nicholson, G., Kennerson, M. (2010). X-linked CMT: genes and gene loci in an Australian cohort. Neurogenetics, 11(2), 267-9. [More Information]
  • 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. [More Information]
  • Claeys, K., Zuchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J., Bienfait, H., Lammens, M., Nicholson, G., et al (2009). Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain, 132(7), 1741-1752. [More Information]
  • 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. [More Information]
  • 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, 191-195. [More Information]
  • Gopinath, S., Kennerson, M., Durnall, J., Nicholson, G. (2007). A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Human Genetics, 121(5), 559-564. [More Information]
  • Kennerson, M., Warburton, T., Nelis, E., Brewer, M., Polly, P., De Jonghe, P., Timmerman, V., Nicholson, G. (2007). Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clinical Chemistry, 53(2), 349-352. [More Information]
  • Huttner, I., Kennerson, M., Reddel, S., Radovanovic, D., Nicholson, G. (2006). Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology, 67(11), 2016-2021. [More Information]
  • Zhu, D., Kennerson, M., Walizada, G., Züchner, S., Vance, J., Nicholson, G. (2005). Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology, 65(3), 496-497. [More Information]
  • Kochanski, A., Kennerson, M., Kawulak, M., Ryniewicz, B., Rowinska-Marcinska, K., Walizada, G., Nowakowski, A., Hausmanowa-Petrusewicz, I., Nicholson, G. (2005). Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci. Neurology, 64(3), 533-535. [More Information]
  • Züchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., Oliveira, S., Merory, J., Speer, M., Stenger, J., Walizada, G., Zhu, D., Nicholson, G., et al (2005). Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics, 37(3), 289-294. [More Information]
  • Chen, Y., Bennett, C., Huynh, H., Blair, I., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M., Rabin, B., Nicholson, G., et al (2004). Dna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4). American Journal of Human Genetics, 74(6), 1128-1135. [More Information]
  • Kok, C., Kennerson, M., Myers, S., Nicholson, G. (2004). Transcript Map Of The Candidate Region For Hsni With Cough And Gastroesophageal Reflux On Chromosome 3P And Exclusion Of Candidate Genes. Neurogenetics, 5(3), 197-200. [More Information]
  • Kok, C., Kennerson, M., Spring, P., Ing, A., Pollard, J., Nicholson, G. (2003). A locus for Hereditary sensory neuropathy with cough and gastroesophageal reflux on Chromosome 3p22-p24. American Journal of Human Genetics, 73(3), 632-637. [More Information]
  • Lorentzos, P., Kaiser, T., Kennerson, M., Nicholson, G. (2003). A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies: Using Multiplexed real-time PCR. Genetic Testing, 7(2), 135-138. [More Information]
  • Vucic, S., Kennerson, M., Zhu, D., Miedema, E., Kok, C., Nicholson, G. (2003). CMT with pyramidal features. Neurology, 60(4), 696-699. [More Information]
  • Zhu, D., Kennerson, M., Merory, J., Chrast, R., Verheijen, M., Lemke, G., Nicholson, G. (2003). Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. Neurogenetics, 4(4), 179-183. [More Information]
  • Knight, M., Kennerson, M., Anney, R., Matsuura, T., Nicholson, G., Salimi-Tari, P., McKinlay Garnder, R., Storey, E., Forrest, S. (2003). Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxix mouse mutant. Neurobiology of Disease, 13(2), 147-157. [More Information]
  • De Jonghe, P., Auer-Grumbach, M., Irobi, J., Wagner, K., Plecko, B., Kennerson, M., Zhu, D., De Vriendt, E., Van Gerwen, V., Nicholson, G., et al (2002). Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain, 125(6), 1320-1325. [More Information]
  • Dawkins, J., Brahmbhatt, S., Auer-Grumbach, M., Wagner, K., Hartung, H., Verhoeven, K., Timmerman, V., De Jonghe, P., Kennerson, M., LeGuern, E., Nicholson, G. (2002). Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Neuromuscular Disorders, 12(7-8), 656-658. [More Information]
  • Kennerson, M., Nicholson, G., Storey,, E., Gardner,, R., Knight,, M., Tuck, R., Forrest, S. (2001). A new autosomal dominant pure cerebellar ataxia. Neurology, 57, 1913-1915.
  • Kennerson, M., Nicholson, G., Zhu, D., Gardner,, J., Storey,, E., Meroy, J., Robertson, S. (2001). Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics, 69, 883-888.

Conferences

  • Kochanski, A., Kennerson, M., Ploski, R., Ryniewicz, B., Kosinska, J., Kawulak, M., Rowinska-Marcinska, K., Walizada, G., Hausmanowa-Petrusewicz, I., Nicholson, G. (2012). Charcot-Marie-Tooth type 2 disease with autosomal dominant trait of inheritance not linked to other axonal CMT loci. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.
  • Claeys, K., Zuchner, S., Kennerson, M., Verhoeven, K., Ceuterick, C., Martin, J., Berciano, J., Vance, J., Nicholson, G., Timmerman, V., et al (2006). Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.

2018

  • Kennerson, M., Corbett, A., Ellis, M., Perez-Siles, G., Nicholson, G. (2018). A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. Brain, 141(9), e66. [More Information]
  • Lubomski, M., Hayes, M., Kennerson, M., Ellis, M., Chu, S., Blackie, J., O�Sullivan, J., Nicholson, G. (2018). A novel Parkinson's disease risk variant, p W378R, in the Gaucher's disease GBA gene. Movement Disorders, 33(10), 1662-1664. [More Information]
  • Cutrupi, A., Brewer, M., Nicholson, G., Kennerson, M. (2018). Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. Molecular Genetics & Genomic Medicine, 6(3), 422-433. [More Information]
  • Kanhangad, M., Cornett, K., Brewer, M., Nicholson, G., Ryan, M., Smith, R., Subramanian, G., Young, H., Zuchner, S., Kennerson, M., Burns, J., Menezes, M. (2018). Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. Neurology, 90(19), e1706-e1710. [More Information]

2017

  • Tsai, P., Soong, B., Mademan, I., Huang, Y., Liu, C., Hsiao, C., Wu, H., Liu, T., Liu, Y., Nicholson, G., Kennerson, M., et al (2017). A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain, 140(5), 1252-1266. [More Information]
  • Minnerop, M., Kurzwelly, D., Wagner, H., Soehn, A., Reichbauer, J., Tao, F., Rattay, T., Peitz, M., Rehbach, K., Kennerson, M., Nicholson, G., et al (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain, 140(6), 1561-1578. [More Information]
  • Shahrizaila, N., Noto, Y., Simon, N., Huynh, W., Shibuya, K., Matamala, J., Dharmadasa, T., Devenney, E., Kennerson, M., Nicholson, G., Kiernan, M. (2017). Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy. Clinical Neurophysiology, 128(1), 227-232. [More Information]
  • Razi, S., Cogger, V., Kennerson, M., Benson, V., McMahon, A., Blyth, F., Handelsman, D., Seibel, M., Hirani, V., Naganathan, V., Waite, L., Cumming, R., Le Couteur, D., et al (2017). SIRT1 Polymorphisms and Serum-Induced SIRT1 Protein Expression in Aging and Frailty: The CHAMP Study. Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 72(7), 870-876. [More Information]

2016

  • Drew, A., Cutrupi, A., Brewer, M., Nicholson, G., Kennerson, M. (2016). A 1.35A�Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. Human Genetics, 135(11), 1269-1278. [More Information]
  • Perez-Siles, G., Grant, A., Ellis, M., Ly, C., Kidambi, A., Khalil, M., Llanos, R., La Fontaine, S., Strickland, A., Zuchner, S., Bermeo, S., Neist, E., Speranza, T., Nicholson, G., Kennerson, M., et al (2016). Characterizing the molecular phenotype of an: Atp7aT985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Metallomics, 8(9), 981-992. [More Information]
  • Albulym, O., Kennerson, M., Harms, M., Drew, A., Siddell, A., Auer-Grumbach, M., Pestronk, A., Connolly, A., Baloh, R., Zuchner, S., Reddel, S., Nicholson, G. (2016). MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Annals of Neurology, 79(3), 419-427. [More Information]
  • Tey, S., Ahmad-Annuar, A., Drew, A., Shahrizaila, N., Nicholson, G., Kennerson, M. (2016). Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies. Clinical Genetics, 90(2), 127-133. [More Information]
  • Perez-Siles, G., Ly, C., Grant, A., Drew, A., Yiu, E., Ryan, M., Chuang, D., Tso, S., Nicholson, G., Kennerson, M. (2016). Pathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation. Neurobiology of Disease, 94, 237-244. [More Information]
  • Brewer, M., Chaudhry, R., Qi, J., Kidambi, A., Drew, A., Menezes, M., Ryan, M., Farrar, M., Mowat, D., Subramanian, G., Young, H., Nicholson, G., Kennerson, M., et al (2016). Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genetics, 12(7), 1-16. [More Information]
  • Kennerson, M., Kim, E., Siddell, A., Kidambi, A., Kim, S., Hong, Y., Hwang, S., Chung, K., Choi, B. (2016). X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. Journal of the Peripheral Nervous System, 21(1), 45-51. [More Information]

2015

  • Coutelier, M., Goizet, C., Durr, A., Habarou, F., Morais, S., Dionne-Laporte, A., Tao, F., Konop, J., Stoll, M., Charles, P., Kennerson, M., Nicholson, G., et al (2015). Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain, 138(8), 2191-2205. [More Information]
  • Drew, A., Zhu, D., Kidambi, A., Ly, C., Tey, S., Brewer, M., Ahmad-Annuar, A., Nicholson, G., Kennerson, M. (2015). Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Molecular Genetics & Genomic Medicine, 3(2), 143-154. [More Information]
  • Strickland, A., Schabhuttl, M., Offenbacher, H., Synofzik, M., Hauser, N., Brunner-Krainz, M., Gruber-Sedlmayr, U., Moore, S., Windhager, R., Bender, B., Kennerson, M., et al (2015). Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of Neurology, 262(9), 2124-2134. [More Information]
  • Peeters, K., Bervoets, S., Chamova, T., Litvinenko, I., De Vriendt, E., Bichev, S., Kancheva, D., Mitev, V., Kennerson, M., Timmerman, V., et al (2015). Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies. Human Mutation, 36(3), 287-291. [More Information]

2014

  • Tey, S., Ahmad-Annuar, A., Drew, A., Shahrizaila, N., Nicholson, G., Kennerson, M. (2014). Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies. Neurogenetics, 15(4), 229-235. [More Information]
  • Liang, C., Howells, J., Kennerson, M., Nicholson, G., Burke, D., Ng, K. (2014). Axonal excitability in X-linked dominant Charcot Marie Tooth disease. Clinical Neurophysiology, 125(6), 1261-1269. [More Information]

2013

  • Kennerson, M., Yiu, E., Chuang, D., Kidambi, A., Tso, S., Ly, C., Chaudhry, R., Drew, A., Rance, G., Delatyckl, M., Nicholson, G., et al (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. [More Information]
  • 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 and Nerve, 47(6), 922-924. [More Information]

2012

  • Shahrizaila, N., Goh, K., Ahmad-Annuar, A., Chaudhry, R., Nicholson, G., Kennerson, M., Ly, C., Ryan, M. (2012). A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A. Muscle and Nerve, 46(3), 454-455. [More Information]
  • McLaughlin, H., Sakaguchi, R., Giblin, W., Wilson, T., Biesecker, L., Lupski, J., Talbot, K., Vance, J., Zuchner, S., Lee, Y., Kennerson, M., Nicholson, G., et al (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. [More Information]
  • 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), 1794-1807. [More Information]
  • Kochanski, A., Kennerson, M., Ploski, R., Ryniewicz, B., Kosinska, J., Kawulak, M., Rowinska-Marcinska, K., Walizada, G., Hausmanowa-Petrusewicz, I., Nicholson, G. (2012). Charcot-Marie-Tooth type 2 disease with autosomal dominant trait of inheritance not linked to other axonal CMT loci. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.
  • Rinaldi, C., Grunseich, C., Sevrioukova, I., Schindler, A., Horkayne-Szakaly, I., Lamperti, C., Landoure, G., Kennerson, M., Burnett, B., Bonnemann, C., et al (2012). Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor. American Journal of Human Genetics, 91(6), 1095-1102. [More Information]

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 and Medical Sciences, 66A(1), 3-8. [More Information]

2010

  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Vucic, S., North, K., et al (2010). Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders, 20(4), 229-237. [More Information]
  • Kennerson, M., Nicholson, G., Kaler, S., Kowlaski, B., Mercer, J., Tang, J., Llanos, R., Chu, S., Takata, R., Speck-Martins, C., et al (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. [More Information]
  • Williams, S., Marshall, N., Kennerson, M., Rogers, N., Liu, P., Grunstein, R. (2010). Modafinil Effects during Acute Continuous Positive Airway Withdrawal: A Randomized Crossover Double-Blind Placebo-controlled Trial. American Journal of Respiratory and Critical Care Medicine, 181(8), 825-831. [More Information]
  • 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. [More Information]
  • Brewer, M., Chaudhry, R., McDowall, K., Chu, S., Kowalski, B., Nicholson, G., Kennerson, M. (2010). X-linked CMT: genes and gene loci in an Australian cohort. Neurogenetics, 11(2), 267-9. [More Information]

2009

  • 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 Carmen Espinos, Vicente Felipo, Francesc Palau (Eds.), Inherited Neuromuscular Diseases, (pp. 201-206). Dordrecht: Springer Science+Business Media. [More Information]
  • 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. [More Information]
  • Claeys, K., Zuchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J., Bienfait, H., Lammens, M., Nicholson, G., et al (2009). Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain, 132(7), 1741-1752. [More Information]
  • 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. [More Information]

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, 191-195. [More Information]

2007

  • Gopinath, S., Kennerson, M., Durnall, J., Nicholson, G. (2007). A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Human Genetics, 121(5), 559-564. [More Information]
  • Kennerson, M., Warburton, T., Nelis, E., Brewer, M., Polly, P., De Jonghe, P., Timmerman, V., Nicholson, G. (2007). Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clinical Chemistry, 53(2), 349-352. [More Information]

2006

  • Claeys, K., Zuchner, S., Kennerson, M., Verhoeven, K., Ceuterick, C., Martin, J., Berciano, J., Vance, J., Nicholson, G., Timmerman, V., et al (2006). Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Huttner, I., Kennerson, M., Reddel, S., Radovanovic, D., Nicholson, G. (2006). Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology, 67(11), 2016-2021. [More Information]

2005

  • Zhu, D., Kennerson, M., Walizada, G., Züchner, S., Vance, J., Nicholson, G. (2005). Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology, 65(3), 496-497. [More Information]
  • Kochanski, A., Kennerson, M., Kawulak, M., Ryniewicz, B., Rowinska-Marcinska, K., Walizada, G., Nowakowski, A., Hausmanowa-Petrusewicz, I., Nicholson, G. (2005). Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci. Neurology, 64(3), 533-535. [More Information]
  • Züchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., Oliveira, S., Merory, J., Speer, M., Stenger, J., Walizada, G., Zhu, D., Nicholson, G., et al (2005). Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics, 37(3), 289-294. [More Information]

2004

  • Chen, Y., Bennett, C., Huynh, H., Blair, I., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M., Rabin, B., Nicholson, G., et al (2004). Dna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4). American Journal of Human Genetics, 74(6), 1128-1135. [More Information]
  • Kok, C., Kennerson, M., Myers, S., Nicholson, G. (2004). Transcript Map Of The Candidate Region For Hsni With Cough And Gastroesophageal Reflux On Chromosome 3P And Exclusion Of Candidate Genes. Neurogenetics, 5(3), 197-200. [More Information]

2003

  • Kok, C., Kennerson, M., Spring, P., Ing, A., Pollard, J., Nicholson, G. (2003). A locus for Hereditary sensory neuropathy with cough and gastroesophageal reflux on Chromosome 3p22-p24. American Journal of Human Genetics, 73(3), 632-637. [More Information]
  • Lorentzos, P., Kaiser, T., Kennerson, M., Nicholson, G. (2003). A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies: Using Multiplexed real-time PCR. Genetic Testing, 7(2), 135-138. [More Information]
  • Vucic, S., Kennerson, M., Zhu, D., Miedema, E., Kok, C., Nicholson, G. (2003). CMT with pyramidal features. Neurology, 60(4), 696-699. [More Information]
  • Zhu, D., Kennerson, M., Merory, J., Chrast, R., Verheijen, M., Lemke, G., Nicholson, G. (2003). Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. Neurogenetics, 4(4), 179-183. [More Information]
  • Knight, M., Kennerson, M., Anney, R., Matsuura, T., Nicholson, G., Salimi-Tari, P., McKinlay Garnder, R., Storey, E., Forrest, S. (2003). Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxix mouse mutant. Neurobiology of Disease, 13(2), 147-157. [More Information]

2002

  • De Jonghe, P., Auer-Grumbach, M., Irobi, J., Wagner, K., Plecko, B., Kennerson, M., Zhu, D., De Vriendt, E., Van Gerwen, V., Nicholson, G., et al (2002). Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain, 125(6), 1320-1325. [More Information]
  • Dawkins, J., Brahmbhatt, S., Auer-Grumbach, M., Wagner, K., Hartung, H., Verhoeven, K., Timmerman, V., De Jonghe, P., Kennerson, M., LeGuern, E., Nicholson, G. (2002). Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Neuromuscular Disorders, 12(7-8), 656-658. [More Information]

2001

  • Kennerson, M., Nicholson, G., Storey,, E., Gardner,, R., Knight,, M., Tuck, R., Forrest, S. (2001). A new autosomal dominant pure cerebellar ataxia. Neurology, 57, 1913-1915.
  • Kennerson, M., Nicholson, G., Zhu, D., Gardner,, J., Storey,, E., Meroy, J., Robertson, S. (2001). Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics, 69, 883-888.
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