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Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M, Pinares-Garcia P, Stephenson SE, Lee WS, Kooshavar D, Mclean CA, Howell KB, Leventer RJ, Reid CA, Lockhart PJ. Coleman M, et al. Among authors: mclean ca. Neurol Genet. 2024 Mar 11;10(2):e200135. doi: 10.1212/NXG.0000000000200135. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38496361 Free PMC article.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D'Adamo P, Bahlo M, Amor DJ, Lockhart PJ. Wilson GR, et al. Among authors: mclean c. Am J Hum Genet. 2014 Dec 4;95(6):729-35. doi: 10.1016/j.ajhg.2014.10.015. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434005 Free PMC article.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: mclean ca. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ. Stutterd C, et al. Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi: 10.1002/acn3.487. eCollection 2017 Dec. Ann Clin Transl Neurol. 2017. PMID: 29296614 Free PMC article.
Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.
Gao Y, Wilson GR, Stephenson SEM, Oulad-Abdelghani M, Charlet-Berguerand N, Bozaoglu K, McLean CA, Thomas PQ, Finkelstein DI, Lockhart PJ. Gao Y, et al. Among authors: mclean ca. Mol Brain. 2020 Mar 30;13(1):52. doi: 10.1186/s13041-020-00584-7. Mol Brain. 2020. PMID: 32228644 Free PMC article.
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Folland C, Ganesh V, Weisburd B, McLean C, Kornberg AJ, O'Donnell-Luria A, Rehm HL, Stevanovski I, Chintalaphani SR, Kennedy P, Deveson IW, Ravenscroft G. Folland C, et al. Neurol Genet. 2023 Mar 14;9(2):e200064. doi: 10.1212/NXG.0000000000200064. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090938 Free PMC article.
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Cabrera-Serrano M, Coote DJ, Azmanov D, Goullee H, Andersen E, McLean C, Davis M, Ishimura R, Stark Z, Vallat JM, Komatsu M, Kornberg A, Ryan M, Laing NG, Ravenscroft G. Cabrera-Serrano M, et al. J Med Genet. 2020 Dec;57(12):835-842. doi: 10.1136/jmedgenet-2019-106496. Epub 2020 Mar 16. J Med Genet. 2020. PMID: 32179706 Free article.
330 results