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Page 1
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF. Keogh MJ, et al. Among authors: duff j. J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x. Epub 2015 May 16. J Neurol. 2015. PMID: 25976027 Free PMC article.
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Pyle A, et al. Among authors: duff j. Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12. Brain. 2015. PMID: 25497598 Free PMC article.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Taylor RW, et al. Among authors: duff j. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184. JAMA. 2014. PMID: 25058219 Free PMC article.
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R. Pyle A, et al. Among authors: duff j. J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003. J Neuromuscul Dis. 2014. PMID: 26380172 Free PMC article.
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.
Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. Lewis-Smith D, et al. Among authors: duff j. Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123478 Free PMC article.
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.
Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF. Lewis-Smith DJ, et al. Among authors: duff j. Neurol Genet. 2016 Oct 31;2(6):e110. doi: 10.1212/NXG.0000000000000110. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27830184 Free PMC article.
690 results