He L - Search Results

1

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. Oláhová M, et al. Among authors: he l. Hum Mol Genet. 2019 Nov 15;28(22):3766-3776. doi: 10.1093/hmg/ddz202. Hum Mol Genet. 2019. PMID: 31435670 Free PMC article.

2

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. He L, et al. Nucleic Acids Res. 2002 Jul 15;30(14):e68. doi: 10.1093/nar/gnf067. Nucleic Acids Res. 2002. PMID: 12136116 Free PMC article.

3

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. Deschauer M, et al. Among authors: he l. Neuromuscul Disord. 2003 Sep;13(7-8):568-72. doi: 10.1016/s0960-8966(03)00071-3. Neuromuscul Disord. 2003. PMID: 12921794

4

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.

McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KM, Taylor RW. McFarland R, et al. Among authors: he l. Neuromuscul Disord. 2008 Jan;18(1):63-7. doi: 10.1016/j.nmd.2007.07.007. Epub 2007 Sep 6. Neuromuscul Disord. 2008. PMID: 17825557

5

Prevalence of mitochondrial DNA disease in adults.

Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Schaefer AM, et al. Among authors: he l. Ann Neurol. 2008 Jan;63(1):35-9. doi: 10.1002/ana.21217. Ann Neurol. 2008. PMID: 17886296

6

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Hudson G, et al. Among authors: he l. Brain. 2008 Feb;131(Pt 2):329-37. doi: 10.1093/brain/awm272. Epub 2007 Dec 7. Brain. 2008. PMID: 18065439

7

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW. Swalwell H, et al. Among authors: he l. Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398437

8

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.

Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. Blakely E, et al. Among authors: he l. Neuromuscul Disord. 2008 Jul;18(7):557-60. doi: 10.1016/j.nmd.2008.04.014. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18508266

9

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T. Murphy JL, et al. Among authors: he l. Brain. 2008 Nov;131(Pt 11):2832-40. doi: 10.1093/brain/awn252. Brain. 2008. PMID: 18984605

10

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. Blakely EL, et al. Among authors: he l. Arch Neurol. 2009 Mar;66(3):399-402. doi: 10.1001/archneurol.2008.576. Arch Neurol. 2009. PMID: 19273760

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