People_

Professor Marina Kennerson

Professor
School of Medical Sciences
Faculty of Medicine and Health

Phone

+61 2 9767 9119

Fax

+61 2 9767 9101

Email

marina.kennerson@sydney.edu.au

Details

Member of Sydney Southeast Asia Centre

Biographical details

I am a Professor of Neurogenetics/Neurosciences with the School of Medical Sciences, Faculty of Medicine and Health, University of Sydney; Director of the Northcott Neuroscience Laboratory (NNL), ANZAC Research Institute; Principal Hospital Scientist with the Molecular Medicine Laboratory, Concord Hospital; and Deputy Director (Research) with the Sydney Local Health District Institute of Precision Medicine and Bioinformatics. I lead the Gene Discovery and Translational Functional Genomics Inherited Peripheral Neuropathy (IPN) Program at the NNL, with over 25 years of experience in the IPN field. I have identified 10 causative IPN genes and two complex structural variation mutations causing distal hereditary motor neuropathy (DHMN1) and a form of X-linked Charcot-Marie-Tooth neuropathy (CMTX3) and head an innovative gene discovery and functional genomics program that develops iPSC patient derived motor neuron (iPSC-MNs) and C. elegans pre-clinical models for novel genes discovered by my team. I have facilitated the transition of my team’s gene discoveries and next generation sequencing technologies into the Molecular Medicine Laboratory at Concord Hospital, which is now recognized as a center of excellence and reference laboratory for IPN neurogenetic testing in Australia. I am a distinguished leader in a worldwide clinical and scientific IPN research network through my roles as a member of the Peripheral Nerve Society Board of Directors (2025-2029), a board member with the Charcot-Marie-Tooth and Related Neuropathies Consortium (CMTR), a member of the Scientific Advisory Board for the CMT Research Foundation USA, and Chair of the Asian Oceanic Inherited Neuropathy Consortium (AOINC). My exemplary leadership and scientific foresight, continues to contribute impactful new knowledge to the IPN field and motor neuron biology.

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.

As head of the Gene Discovery and Translational Functional Genomics Inherited Peripheral Neruopathies Program at the ANZAC Research Institute, my research is divided into two components to integrate our gene discoveries with relevant functional studies.

The first component 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 next generation sequencing strategies (PacBio and Oxford Nanopre long read whole genome and RNA sequencing) and adopts a multiomics approach to overlay "omics" data with AI tools. The laboratory has expertise in genetic linkage analysis, molecular biology, next generation sequencing, bioinformatics and gene mapping strategies.

The second component is modelling gene mutations in pre-clinical models to investigate pathogenic mechanisms and inform the development of treatment therapies. I have developd an induced pluripotent stem cell (iPSC) program as well as an in vivo C. elegans program that is helping to validate our gene discoveries and model mutations in patient derived neuronal cells (motor and sensory neurons).

Associations

Peripheral Nerve Society

American Society of Human Genetics

Australian Society of Medical Research

Asian Oceanic Inherited Neruopathy Consortium

Awards and honours

Scientific Appointments

2025 - 2029 Peripheral Nerve Society, Member of Board of Directors (recently elected)

2017 - 2025 Peripheral Nerve Society, CMTR Board Member

2021 - present Institute of Precision Medicine & Bioinformatics SLHD, Deputy Director (Research)

2021 - present MND Research Australia – Research Committee Member

2001 - present ANZAC Research Institute - Research Advisory Committee

2020 - present CMT Research Foundation USA – Scientific Advisory Board

2016 - present Asian Oceanic International Neuropathy Consortium (AOINC), Chair

2015 - 2017 NSW Genomics Reference Group (Office of Health & Medical Research)

2006 - present Postgraduate Research Student Interview Committee

Themes

Neurosciences and Mental Health

Keywords

Bioinformatics, Genetic diseases, Mutation, genetic linkage

Approaches

Cellular/Molecular, Genetics, Treatment/Intervention

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.

United States

(Miller School of Medicine University of Miami) Collaboration with Professor Stephan Zuchner to identify new inherited peripheral neuropathy genes and access the largest cohort of IPN families through the GENESIS platform.

PhD and master's project opportunities

Mapping genes for nerve disease

Current research students

Project title	Research student
Solving the unsolvable – advanced genomics for inherited neurologic disorders	Laura RUDAKS

Publications

By Type

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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

Rudaks, L., Stevanovski, I., Yeow, D., Reis, A., Chintalaphani, S., Cheong, P., Gamaarachchi, H., Worgan, L., Ahmad, K., Hayes, M., Fung, V., Tchan, M., Ng, K., Kennerson, M., Kumar, K., et al (2025). Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders. Annals of Clinical and Translational Neurology, 0, 1-10. [More Information]
Grosz, B., Laing, N., Wallis, M., Ravenscroft, G., Kumar, K., Vucic, S., Kennerson, M., Parmar, J., Ellis, M., Bryen, S., Nicholson, G., et al (2024). A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing. Journal of the Peripheral Nervous System, 29(2), 262-274. [More Information]
Yeh, J., Tsai, Y., Liao, Y., Lin, Y., Lin, S., Huang, S., Kennerson, M., Lee, Y., Chan, C., Chao, H., et al (2024). A missense mutation in human INSC causes peripheral neuropathy. EMBO Molecular Medicine, 16(5), 1091-1114. [More Information]
Van Lent, J., Judge, L., Conklin, B., Tyynismaa, H., Clark, A., Bennett, D., Van Den Bosch, L., Saporta, M., Timmerman, V., Prior, R., Perez-Siles, G., Cutrupi, A., Kennerson, M., et al (2024). Advances and challenges in modeling inherited peripheral neuropathies using iPSCs. Experimental and Molecular Medicine, 56(6), 1348-1364. [More Information]
Rudaks, L., Yeow, D., Ng, K., Deveson, I., Kennerson, M., Kumar, K. (2024). An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches. Cerebellum, 23(5), 2152-2168. [More Information]
Meyer-Schuman, R., Marte, S., Smith, T., Feely, S., Kennerson, M., Nicholson, G., Shy, M., Koutmou, K., Antonellis, A. (2023). A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations. Human Molecular Genetics, 32(13), 2177-2191. [More Information]
Musa, N., Thilakavathy, K., Mohamad, N., Kennerson, M., Inche Mat, L., Loh, W., Abdul Rashid, A., Baharin, J., Ibrahim, A., Wan Sulaiman, W., et al (2023). Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family. Frontiers in Genetics, 13. [More Information]
He, J., Liu, X., Ma, M., Lin, J., Fu, J., Chen, Y., Xu, G., Xu, L., Fu, Z., Xu, D., Kennerson, M., et al (2023). Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease. Annals of Neurology, 93(2), 244-256. [More Information]
Henden, L., Grosz, B., Ellis, M., Nicholson, G., Kennerson, M., Williams, K. (2023). Identity-by-descent analysis of CMTX3 links three families through a common founder. Journal of Human Genetics, 68(1), 47-49. [More Information]
Cipriani, S., Guerrero-Valero, M., Tozza, S., Zhao, E., Vollmer, V., Beijer, D., Danzi, M., Rivellini, C., Lazarevic, D., Pipitone, G., Grosz, B., Kennerson, M., et al (2023). Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy. European Journal of Neurology, 30(2), 511-526. [More Information]
Cutrupi, A., Narayanan, R., Perez-Siles, G., Grosz, B., Lai, K., Boyling, A., Ellis, M., Lin, R., Neumann, B., Mao, D., Nicholson, G., Vucic, S., Kennerson, M., et al (2023). Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy. Brain, 146(3), 880-897. [More Information]
Nishide, M., Le Marquand, K., Davis, M., Halmagyi, G., Fellner, A., Narayanan, R., Kennerson, M., Reddel, S., Worgan, L., Panegyres, P., Kumar, K. (2023). Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34. Cerebellum. [More Information]
Silsby, M., Yiannikas, C., Fois, A., Kennerson, M., Kiernan, M., Fung, V., Vucic, S. (2023). Upper and lower limb tremor in Charcot–Marie–Tooth neuropathy type 1A and the implications for standing balance. Journal of Neurology. [More Information]
Perez-Siles, G., Ellis, M., Ashe, A., Grosz, B., Vucic, S., Kiernan, M., Morris, K., Reddel, S., Kennerson, M. (2022). A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4). Frontiers in Genetics, 12, 801253. [More Information]
Grosz, B., Tisch, S., Tchan, M., Fung, V., Darveniza, P., Fellner, A., Kurian, M., McLean, A., Tomlinson, S., Smyth, R., Wu, K., Kennerson, M., Kumar, K., et al (2022). A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular Genetics & Genomic Medicine, 10(5), e1923-1-e1923-6. [More Information]
Stevanovski, I., Chintalaphani, S., Gamaarachchi, H., Ferguson, J., Pineda Gonzalez, S., Scriba, C., Tchan, M., Fung, V., Ng, K., Cortese, A., Dobson-Stone, C., Fitzpatrick, L., Halliday, G., Kennerson, M., Kumar, K., et al (2022). Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science Advances, 8(9), eabm5386. [More Information]
Akram, M., Handelsman, D., Qayyum, M., Kennerson, M., Rauf, S., Ahmed, S., Ishtiaq, O., Ismail, M., Mansoor, Q., Naseem, A., et al (2022). Genetic analysis of failed male puberty using whole exome sequencing. Journal Of Pediatric Endocrinology and Metabolism, 35(11), 1410-1421. [More Information]
Liao, Y., Chang, F., Huang, H., Chen, T., Chou, Y., Hsu, S., Jih, K., Liu, Y., Hsiao, C., Fukukda, H., Kennerson, M., et al (2022). GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. Neurology, 98(2), E199-E206. [More Information]
Grosz, B., Stevanovski, I., Negri, S., Ellis, M., Barnes, S., Reddel, S., Vucic, S., Nicholson, G., Cortese, A., Kumar, K., Kennerson, M., et al (2022). Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy. Journal of the Peripheral Nervous System, 27(2), 120-126. [More Information]
Carroll, A., Dyck, P., De Carvalho, M., Kennerson, M., Reilly, M., Kiernan, M., Vucic, S. (2022). Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. Journal of Neurology, Neurosurgery and Psychiatry. [More Information]
Boyling, A., Perez-Siles, G., Kennerson, M. (2022). Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome. Frontiers in Genetics, 13. [More Information]
Tavana, N., Ting, T., Lai, K., Kennerson, M., Thilakavathy, K. (2022). Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets. The Italian Journal of Pediatrics (Print), 48(1). [More Information]
Gonzalez-Rajal, A., Marzec, K., McCloy, R., Nobis, M., Chin, V., Hastings, J., Lai, K., Kennerson, M., Hughes, W., Vaghjiani, V., Burgess, A., et al (2021). A non-genetic, cell cycle dependent mechanism of platinum resistance in lung adenocarcinoma. eLife, 10, 1-28. [More Information]
Narayanan, R., Brewer, M., Perez-Siles, G., Ellis, M., Ly, C., Burgess, A., Neumann, B., Nicholson, G., Vucic, S., Kennerson, M. (2021). Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model. Human Molecular Genetics, 31(1), 133-145. [More Information]
Tavana, N., Thilakavathy, K., Kennerson, M., Ting, T. (2021). Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults. Endokrynologia Polska, 72(4), 366-394. [More Information]
Edgar, S., Ellis, M., Abdul-Aziz, N., Goh, K., Shahrizaila, N., Kennerson, M., Ahmad-Annuar, A. (2021). Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 108, 200-206. [More Information]
Grosz, B., Svaren, J., Perez-Siles, G., Nicholson, G., Kennerson, M. (2021). Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1. Neurogenetics, 22(3), 149-160. [More Information]
Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, E., Ryan, M., Choi, B., Nicholson, G., Kennerson, M. (2020). Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation. Scientific Reports, 10(1), 9262. [More Information]
Perez-Siles, G., Cutrupi, A., Ellis, M., Kuriakose, J., La Fontaine, S., Mao, D., Uesugi, M., Takata, R., Speck-Martins, C., Nicholson, G., Kennerson, M. (2020). Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. Disease Models & Mechanisms, 13(2), dmm041541. [More Information]
Kumar, K., Cortese, A., Tomlinson, S., Efthymiou, S., Ellis, M., Zhu, D., Stoll, M., Dominik, N., Tisch, S., Tchan, M., Wu, K., Hawke, S., Cremer, P., Ng, K., Nicholson, G., Kennerson, M., et al (2020). RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome. Brain, 143(10), e82. [More Information]
Senderek, J., Lassuthova, P., Kabzi?ska, D., Abreu, L., Baets, J., Beetz, C., Braathen, G., Brenner, D., Dalton, J., Dankwa, L., Kennerson, M., et al (2020). The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. Neurology, 95(24), e3163-e3179. [More Information]
Johnson, T., Schelch, K., Lai, K., Marzec, K., Kennerson, M., Grusch, M., Reid, G., Burgess, A. (2020). YB-1 knockdown inhibits the proliferation of mesothelioma cells through multiple mechanisms. Cancers, 12(8), 1-21. [More Information]
Grosz, B., Golovchenko, N., Ellis, M., Kumar, K., Nicholson, G., Antonellis, A., Kennerson, M. (2019). A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). Scientific Reports, 9(1), 1-8. [More Information]
Abadir, E., Gasiorowski, R., Lai, K., Kupresanin, F., Romano, A., Silveira, P., Lo, T., Fromm, P., Kennerson, M., Iland, H., Ho, P., Hart, D., Clark, G., et al (2019). CD300f epitopes are specific targets for acute myeloid leukemia with monocytic differentiation. Molecular Oncology, 13(10), 2107-2120. [More Information]
Sancho, P., Bartesaghi, L., Miossec, O., Garcia-Garcia, F., Ramirez-Jimenez, L., Siddell, A., Akesson, E., Hedlund, E., Lassuthova, P., Pascual-Pascual, S., Kennerson, M., et al (2019). Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations. Human Molecular Genetics, 28(10), 1629-1644. [More Information]
Tey, S., Shahrizaila, N., Drew, A., Samulong, S., Goh, K., Battaloglu, E., Atkinson, D., Parman, Y., Jordanova, A., Chung, K., Nicholson, G., Kennerson, M., et al (2019). Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics, 20(3), 117-127. [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]
Kennerson, M., Corbett, A., Ellis, M., Perez-Siles, G., Nicholson, G. (2018). Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. Brain, 141(9), e66. [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., Brennan-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., ZÃ¼chner, 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]
ZÃ¼chner, 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. [More Information]

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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.

By Year

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2025

Rudaks, L., Stevanovski, I., Yeow, D., Reis, A., Chintalaphani, S., Cheong, P., Gamaarachchi, H., Worgan, L., Ahmad, K., Hayes, M., Fung, V., Tchan, M., Ng, K., Kennerson, M., Kumar, K., et al (2025). Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders. Annals of Clinical and Translational Neurology, 0, 1-10. [More Information]

2024

Grosz, B., Laing, N., Wallis, M., Ravenscroft, G., Kumar, K., Vucic, S., Kennerson, M., Parmar, J., Ellis, M., Bryen, S., Nicholson, G., et al (2024). A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing. Journal of the Peripheral Nervous System, 29(2), 262-274. [More Information]
Yeh, J., Tsai, Y., Liao, Y., Lin, Y., Lin, S., Huang, S., Kennerson, M., Lee, Y., Chan, C., Chao, H., et al (2024). A missense mutation in human INSC causes peripheral neuropathy. EMBO Molecular Medicine, 16(5), 1091-1114. [More Information]
Van Lent, J., Judge, L., Conklin, B., Tyynismaa, H., Clark, A., Bennett, D., Van Den Bosch, L., Saporta, M., Timmerman, V., Prior, R., Perez-Siles, G., Cutrupi, A., Kennerson, M., et al (2024). Advances and challenges in modeling inherited peripheral neuropathies using iPSCs. Experimental and Molecular Medicine, 56(6), 1348-1364. [More Information]
Rudaks, L., Yeow, D., Ng, K., Deveson, I., Kennerson, M., Kumar, K. (2024). An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches. Cerebellum, 23(5), 2152-2168. [More Information]

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2023

Meyer-Schuman, R., Marte, S., Smith, T., Feely, S., Kennerson, M., Nicholson, G., Shy, M., Koutmou, K., Antonellis, A. (2023). A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations. Human Molecular Genetics, 32(13), 2177-2191. [More Information]
Musa, N., Thilakavathy, K., Mohamad, N., Kennerson, M., Inche Mat, L., Loh, W., Abdul Rashid, A., Baharin, J., Ibrahim, A., Wan Sulaiman, W., et al (2023). Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family. Frontiers in Genetics, 13. [More Information]
He, J., Liu, X., Ma, M., Lin, J., Fu, J., Chen, Y., Xu, G., Xu, L., Fu, Z., Xu, D., Kennerson, M., et al (2023). Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease. Annals of Neurology, 93(2), 244-256. [More Information]
Henden, L., Grosz, B., Ellis, M., Nicholson, G., Kennerson, M., Williams, K. (2023). Identity-by-descent analysis of CMTX3 links three families through a common founder. Journal of Human Genetics, 68(1), 47-49. [More Information]
Cipriani, S., Guerrero-Valero, M., Tozza, S., Zhao, E., Vollmer, V., Beijer, D., Danzi, M., Rivellini, C., Lazarevic, D., Pipitone, G., Grosz, B., Kennerson, M., et al (2023). Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy. European Journal of Neurology, 30(2), 511-526. [More Information]
Cutrupi, A., Narayanan, R., Perez-Siles, G., Grosz, B., Lai, K., Boyling, A., Ellis, M., Lin, R., Neumann, B., Mao, D., Nicholson, G., Vucic, S., Kennerson, M., et al (2023). Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy. Brain, 146(3), 880-897. [More Information]
Nishide, M., Le Marquand, K., Davis, M., Halmagyi, G., Fellner, A., Narayanan, R., Kennerson, M., Reddel, S., Worgan, L., Panegyres, P., Kumar, K. (2023). Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34. Cerebellum. [More Information]
Silsby, M., Yiannikas, C., Fois, A., Kennerson, M., Kiernan, M., Fung, V., Vucic, S. (2023). Upper and lower limb tremor in Charcot–Marie–Tooth neuropathy type 1A and the implications for standing balance. Journal of Neurology. [More Information]

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2022

Perez-Siles, G., Ellis, M., Ashe, A., Grosz, B., Vucic, S., Kiernan, M., Morris, K., Reddel, S., Kennerson, M. (2022). A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4). Frontiers in Genetics, 12, 801253. [More Information]
Grosz, B., Tisch, S., Tchan, M., Fung, V., Darveniza, P., Fellner, A., Kurian, M., McLean, A., Tomlinson, S., Smyth, R., Wu, K., Kennerson, M., Kumar, K., et al (2022). A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular Genetics & Genomic Medicine, 10(5), e1923-1-e1923-6. [More Information]
Stevanovski, I., Chintalaphani, S., Gamaarachchi, H., Ferguson, J., Pineda Gonzalez, S., Scriba, C., Tchan, M., Fung, V., Ng, K., Cortese, A., Dobson-Stone, C., Fitzpatrick, L., Halliday, G., Kennerson, M., Kumar, K., et al (2022). Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science Advances, 8(9), eabm5386. [More Information]
Akram, M., Handelsman, D., Qayyum, M., Kennerson, M., Rauf, S., Ahmed, S., Ishtiaq, O., Ismail, M., Mansoor, Q., Naseem, A., et al (2022). Genetic analysis of failed male puberty using whole exome sequencing. Journal Of Pediatric Endocrinology and Metabolism, 35(11), 1410-1421. [More Information]
Liao, Y., Chang, F., Huang, H., Chen, T., Chou, Y., Hsu, S., Jih, K., Liu, Y., Hsiao, C., Fukukda, H., Kennerson, M., et al (2022). GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. Neurology, 98(2), E199-E206. [More Information]
Grosz, B., Stevanovski, I., Negri, S., Ellis, M., Barnes, S., Reddel, S., Vucic, S., Nicholson, G., Cortese, A., Kumar, K., Kennerson, M., et al (2022). Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy. Journal of the Peripheral Nervous System, 27(2), 120-126. [More Information]
Carroll, A., Dyck, P., De Carvalho, M., Kennerson, M., Reilly, M., Kiernan, M., Vucic, S. (2022). Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. Journal of Neurology, Neurosurgery and Psychiatry. [More Information]
Boyling, A., Perez-Siles, G., Kennerson, M. (2022). Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome. Frontiers in Genetics, 13. [More Information]
Tavana, N., Ting, T., Lai, K., Kennerson, M., Thilakavathy, K. (2022). Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets. The Italian Journal of Pediatrics (Print), 48(1). [More Information]

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2021

Gonzalez-Rajal, A., Marzec, K., McCloy, R., Nobis, M., Chin, V., Hastings, J., Lai, K., Kennerson, M., Hughes, W., Vaghjiani, V., Burgess, A., et al (2021). A non-genetic, cell cycle dependent mechanism of platinum resistance in lung adenocarcinoma. eLife, 10, 1-28. [More Information]
Narayanan, R., Brewer, M., Perez-Siles, G., Ellis, M., Ly, C., Burgess, A., Neumann, B., Nicholson, G., Vucic, S., Kennerson, M. (2021). Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model. Human Molecular Genetics, 31(1), 133-145. [More Information]
Tavana, N., Thilakavathy, K., Kennerson, M., Ting, T. (2021). Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults. Endokrynologia Polska, 72(4), 366-394. [More Information]
Edgar, S., Ellis, M., Abdul-Aziz, N., Goh, K., Shahrizaila, N., Kennerson, M., Ahmad-Annuar, A. (2021). Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 108, 200-206. [More Information]
Grosz, B., Svaren, J., Perez-Siles, G., Nicholson, G., Kennerson, M. (2021). Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1. Neurogenetics, 22(3), 149-160. [More Information]

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2020

Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, E., Ryan, M., Choi, B., Nicholson, G., Kennerson, M. (2020). Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation. Scientific Reports, 10(1), 9262. [More Information]
Perez-Siles, G., Cutrupi, A., Ellis, M., Kuriakose, J., La Fontaine, S., Mao, D., Uesugi, M., Takata, R., Speck-Martins, C., Nicholson, G., Kennerson, M. (2020). Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. Disease Models & Mechanisms, 13(2), dmm041541. [More Information]
Kumar, K., Cortese, A., Tomlinson, S., Efthymiou, S., Ellis, M., Zhu, D., Stoll, M., Dominik, N., Tisch, S., Tchan, M., Wu, K., Hawke, S., Cremer, P., Ng, K., Nicholson, G., Kennerson, M., et al (2020). RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome. Brain, 143(10), e82. [More Information]
Senderek, J., Lassuthova, P., Kabzi?ska, D., Abreu, L., Baets, J., Beetz, C., Braathen, G., Brenner, D., Dalton, J., Dankwa, L., Kennerson, M., et al (2020). The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. Neurology, 95(24), e3163-e3179. [More Information]
Johnson, T., Schelch, K., Lai, K., Marzec, K., Kennerson, M., Grusch, M., Reid, G., Burgess, A. (2020). YB-1 knockdown inhibits the proliferation of mesothelioma cells through multiple mechanisms. Cancers, 12(8), 1-21. [More Information]

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2019

Grosz, B., Golovchenko, N., Ellis, M., Kumar, K., Nicholson, G., Antonellis, A., Kennerson, M. (2019). A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). Scientific Reports, 9(1), 1-8. [More Information]
Abadir, E., Gasiorowski, R., Lai, K., Kupresanin, F., Romano, A., Silveira, P., Lo, T., Fromm, P., Kennerson, M., Iland, H., Ho, P., Hart, D., Clark, G., et al (2019). CD300f epitopes are specific targets for acute myeloid leukemia with monocytic differentiation. Molecular Oncology, 13(10), 2107-2120. [More Information]
Sancho, P., Bartesaghi, L., Miossec, O., Garcia-Garcia, F., Ramirez-Jimenez, L., Siddell, A., Akesson, E., Hedlund, E., Lassuthova, P., Pascual-Pascual, S., Kennerson, M., et al (2019). Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations. Human Molecular Genetics, 28(10), 1629-1644. [More Information]
Tey, S., Shahrizaila, N., Drew, A., Samulong, S., Goh, K., Battaloglu, E., Atkinson, D., Parman, Y., Jordanova, A., Chung, K., Nicholson, G., Kennerson, M., et al (2019). Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics, 20(3), 117-127. [More Information]

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2018

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]
Kennerson, M., Corbett, A., Ellis, M., Perez-Siles, G., Nicholson, G. (2018). Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. Brain, 141(9), e66. [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]

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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]

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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., Brennan-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]

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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]

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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]

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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]

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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]

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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., ZÃ¼chner, 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]
ZÃ¼chner, 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]

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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. [More Information]

Selected Grants

2023

Sartorius Incucyte SX5 Live-Cell Analysis System, Kennerson M, Cogger V, Clark G, DVC Research/Equipment Grant

2021

Probing the genetic predisposition of ALS in Malaysia, Kennerson M, Sydney Southeast Asia Centre/Collaborative Research Grant
Closing the gap in diagnosis of neurological disorders including ataxias and neuropathies a trans-Australia collaboration, Kennerson M, Vucic S, Perez-Siles G, Department of Health and Aged Care (Federal)/MRFF - Genomic Health Futures Mission (GHFM) - Genomics Health Futures Mission Grant

2019

Funding to facilitate the visit of PhD student Ms Suzanna Edgar of University of Malaya, Kennerson M, Sydney Southeast Asia Centre/Mobility Grant

2013

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

2012

Gene Identification for Inherited Peripheral Neuropathies by applying Next Generation Sequencing, Kennerson M, Nicholson G, National Health and Medical Research Council (NHMRC)/Project Grants
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, Brennan-Speranza T, Zheng Y, DVC Research/Equipment Grant
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

2010

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 Grant
Discovering Genes for X-linked Charcot-Marie-Tooth Neuropathy, Nicholson G, Kennerson M, National Health and Medical Research Council (NHMRC)/Project Grants

2009

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 Grant

2008

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 Grant

2007

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
Sirtuins and the molecular epidemiology of frailty in older men, Cumming R, De Cabo R, Le Couteur D, Kennerson M, De Cabo R, Naganathan V, Sambrook P, National Health and Medical Research Council (NHMRC)/Project Grants

2006

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
Leica CM3050 S cryostat, Allan C, Blair J, Dunstan C, Handelsman D, Kennerson M, Lowe H, Nicholson G, Seibel M, Witting P, Zhou H, University of Sydney/Major Equipment Grant

2005

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 Grant
KODAK Image Station 2000mm Multi-Modal Imager, Blair J, Dunstan C, Freedman B, Kennerson M, Le Couteur D, Muller M, Myers S, Nicholson G, Seibel M, Witting P, University of Sydney/Major Equipment Grant

2004

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

2003

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

2002

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

2000

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

1999

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

In the media

Hosting 4^th Asian Oceanic Inherited Neuropathy Consortium (AOINC) meeting in Sydney, Australia; CMT Australia Newsletter (Volume 93, Summer 2020).
NHMRC Ideas Grant awarded to Northcott Neuroscience Laboratory; ANZAC Research Institute Discovery Newsletter (Issue 23 January 2020).
NHMRC Success, Participation at the 9^th Annual CMT Aussie Kids and Hosting the second Celebrating Microscopes Together; CMT Australia Newsletter (Volume 94, Autumn 2020).
Another step closer to understanding diseases of motor neruons; ANZAC Research Institute Discovery Newsletter (Issue 23 January 2020).
Overcoming Motor Neuron Disease in Australia, SSEAC Stories by the Sydney Southest Asia Centre Podcast (July 15 2020).
From Gene Discovery to Therapy for Patients, ANZAC Research Institute Discovery Newsletter (Issue 24 August 2020).
Navigating neurogenomic “dark matter” at CRGH: the role of structural variation in motor neuron disorders, Institute of Precision Medicine and Bioinformatics E-Newsletter (28 October 2020).
Boost for CMT Research with a $3 million MRFF Grant awarded for improving the diagnosis of rare neurogenetic diseases, CMT Australia Newsletter (Volume 98, Winter 2021).
Australian researchers win grant to discover genetic mutations, Charcot-Marie-Tooth News (21 July 2021) Australian Researchers Win Grant for CMT to Discover Genetic Mutations (charcot-marie-toothnews.com).
Introducing IPM&B Deputy Directors, Head of Research, Professor Marina Kennerson, Institute of Precision Medicine and Bioinformatics E-Newsletter (21 July 2021).
Featured in blog for London Calling 2023 Nanopore Conference on Rare Disease Discovery https://nanoporetech.com/about-us/news/blog-pushing-boundaries-rare-disease-research-updates-london-calling-2023
IPM&B 2024 ASM – Unlocking disease mechanisms through Multi Omics approaches. Professor Kennerson presentation on the 3D-genome. Institute of Precision Medicine and Bioinformatics E-Newsletter (25 November 2024).

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Professor Marina Kennerson

Publications

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By Year

Selected Grants

2023

2021

2019

2013

2012

2010

2009

2008

2007

2006

2005

2004

2003

2002

2000

1999

In the media