Kennerson ML[Author] - Search Results

Year	Number of Results
1992	1
1994	2
1995	2
1996	1
1997	1
1998	1
2001	2
2003	3
2004	2
2005	1
2006	1
2007	2
2010	1
2011	1
2012	2
2013	1
2014	1
2015	1
2016	8
2017	2
2018	3
2019	3
2020	2
2021	5
2022	6
2023	5
2024	3

1

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Cutrupi AN, Narayanan RK, Perez-Siles G, Grosz BR, Lai K, Boyling A, Ellis M, Lin RCY, Neumann B, Mao D, Uesugi M, Nicholson GA, Vucic S, Saporta MA, Kennerson ML. Cutrupi AN, et al. Among authors: kennerson ml. Brain. 2023 Mar 1;146(3):880-897. doi: 10.1093/brain/awac424. Brain. 2023. PMID: 36380488 Free PMC article.

2

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.

Boyling A, Perez-Siles G, Kennerson ML. Boyling A, et al. Among authors: kennerson ml. Front Genet. 2022 Mar 25;13:842860. doi: 10.3389/fgene.2022.842860. eCollection 2022. Front Genet. 2022. PMID: 35401663 Free PMC article. Review.

3

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.

Tavana N, Thilakavathy K, Kennerson ML, Ting TH. Tavana N, et al. Among authors: kennerson ml. Endokrynol Pol. 2021;72(4):366-394. doi: 10.5603/EP.a2021.0062. Epub 2021 Jul 22. Endokrynol Pol. 2021. PMID: 34292571 Free article. Review.

4

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. Cutrupi AN, et al. Among authors: kennerson ml. Mol Genet Genomic Med. 2018 May;6(3):422-433. doi: 10.1002/mgg3.390. Epub 2018 Mar 23. Mol Genet Genomic Med. 2018. PMID: 29573232 Free PMC article. Review.

5

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.

Nishide M, Le Marquand K, Davis MR, Halmágyi GM, Fellner A, Narayanan RK, Kennerson ML, Reddel SW, Worgan L, Panegyres PK, Kumar KR. Nishide M, et al. Among authors: kennerson ml. Cerebellum. 2024 Feb;23(1):268-277. doi: 10.1007/s12311-023-01522-8. Epub 2023 Jan 25. Cerebellum. 2024. PMID: 36696030 Free PMC article. Review.

6

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.

Grosz BR, Stevanovski I, Negri S, Ellis M, Barnes S, Reddel S, Vucic S, Nicholson GA, Cortese A, Kumar KR, Deveson IW, Kennerson ML. Grosz BR, et al. Among authors: kennerson ml. J Peripher Nerv Syst. 2022 Jun;27(2):120-126. doi: 10.1111/jns.12485. Epub 2022 Mar 5. J Peripher Nerv Syst. 2022. PMID: 35224818

7

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.

Perez-Siles G, Cutrupi A, Ellis M, Kuriakose J, La Fontaine S, Mao D, Uesugi M, Takata RI, Speck-Martins CE, Nicholson G, Kennerson ML. Perez-Siles G, et al. Among authors: kennerson ml. Dis Model Mech. 2020 Jan 13;13(2):dmm041541. doi: 10.1242/dmm.041541. Dis Model Mech. 2020. PMID: 31969342 Free PMC article.

8

A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

Kennerson ML, Corbett AC, Ellis M, Perez-Siles G, Nicholson GA. Kennerson ML, et al. Brain. 2018 Sep 1;141(9):e66. doi: 10.1093/brain/awy184. Brain. 2018. PMID: 29982295 No abstract available.

9

Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy.

Shahrizaila N, Noto Y, Simon NG, Huynh W, Shibuya K, Matamala JM, Dharmadasa T, Devenney E, Kennerson ML, Nicholson GA, Kiernan MC. Shahrizaila N, et al. Among authors: kennerson ml. Clin Neurophysiol. 2017 Jan;128(1):227-232. doi: 10.1016/j.clinph.2016.11.010. Epub 2016 Nov 21. Clin Neurophysiol. 2017. PMID: 27940147

10

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Grosz BR, Tisch S, Tchan MC, Fung VSC, Darveniza P, Fellner A, Kurian MA, McLean A, Tomlinson SE, Smyth R, Devery S, Wu KHC, Kennerson ML, Kumar KR. Grosz BR, et al. Among authors: kennerson ml. Mol Genet Genomic Med. 2022 May;10(5):e1923. doi: 10.1002/mgg3.1923. Epub 2022 Mar 16. Mol Genet Genomic Med. 2022. PMID: 35293157 Free PMC article.

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