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Page 1
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B. Lee Y, et al. Among authors: sue c. J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19. J Clin Invest. 2018. PMID: 29457785 Free PMC article.
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.
Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC. Bucelli RC, et al. Among authors: sue cm. Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24. Neurology. 2015. PMID: 26208961 Free PMC article.
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B. Ghaoui R, et al. Among authors: sue cm. Neurology. 2016 Jan 26;86(4):391-8. doi: 10.1212/WNL.0000000000002324. Epub 2015 Dec 30. Neurology. 2016. PMID: 26718575 Free PMC article.
A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.
Diot A, Hinks-Roberts A, Lodge T, Liao C, Dombi E, Morten K, Brady S, Fratter C, Carver J, Muir R, Davis R, Green CJ, Johnston I, Hilton-Jones D, Sue C, Mortiboys H, Poulton J. Diot A, et al. Among authors: sue c. Pharmacol Res. 2015 Oct;100:24-35. doi: 10.1016/j.phrs.2015.07.014. Epub 2015 Jul 18. Pharmacol Res. 2015. PMID: 26196248
Measurement of ATP production in mitochondrial disorders.
Shepherd RK, Checcarelli N, Naini A, De Vivo DC, DiMauro S, Sue CM. Shepherd RK, et al. Among authors: sue cm. J Inherit Metab Dis. 2006 Feb;29(1):86-91. doi: 10.1007/s10545-006-0148-8. J Inherit Metab Dis. 2006. PMID: 16601873
Population prevalence of the MELAS A3243G mutation.
Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Mitchell P, Sue CM. Manwaring N, et al. Among authors: sue cm. Mitochondrion. 2007 May;7(3):230-3. doi: 10.1016/j.mito.2006.12.004. Epub 2007 Jan 8. Mitochondrion. 2007. PMID: 17300999
255 results