He L - Search Results

1

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW. Lax NZ, et al. Among authors: he l. J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209. J Neuropathol Exp Neurol. 2015. PMID: 26083569 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

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Blakely EL, He L, Turnbull DM, Taylor RW, Tajsharghi H. Vondracek P, et al. Among authors: he l. Eur J Paediatr Neurol. 2007 Nov;11(6):381-4. doi: 10.1016/j.ejpn.2007.01.010. Epub 2007 Mar 29. Eur J Paediatr Neurol. 2007. PMID: 17395506

5

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

6

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

7

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

8

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

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

18,946 results

Search Page

Filters