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Page 1
Maternally inherited mitochondrial DNA disease in consanguineous families.
Alston CL, He L, Morris AA, Hughes I, de Goede C, Turnbull DM, McFarland R, Taylor RW. Alston CL, et al. Among authors: hughes i. Eur J Hum Genet. 2011 Dec;19(12):1226-9. doi: 10.1038/ejhg.2011.124. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712854 Free PMC article.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. Ng YS, et al. Among authors: hughes i. EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24. EBioMedicine. 2018. PMID: 29506874 Free PMC article.
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Ng YS, et al. Among authors: hughes i. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187502 Free PMC article.
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Rodríguez Cruz PM, Hughes I, Manzur A, Munot P, Ramdas S, Wright R, Breen C, Pitt M, Pagnamenta AT, Taylor JC, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: hughes i. Neuromuscul Disord. 2021 Jan;31(1):21-28. doi: 10.1016/j.nmd.2020.10.006. Epub 2020 Oct 20. Neuromuscul Disord. 2021. PMID: 33250374
Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: hughes i. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Nasca A, et al. Among authors: hughes i. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28544275 Free PMC article.
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Among authors: hughes i. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519
740 results