Howell N - Search Results

1

The role of the Met98Lys optineurin variant in inherited optic nerve diseases.

Craig JE, Hewitt AW, Dimasi DP, Howell N, Toomes C, Cohn AC, Mackey DA. Craig JE, et al. Among authors: howell n. Br J Ophthalmol. 2006 Nov;90(11):1420-4. doi: 10.1136/bjo.2006.099333. Epub 2006 Aug 2. Br J Ophthalmol. 2006. PMID: 16885188 Free PMC article.

2

Establishing risk of vision loss in Leber hereditary optic neuropathy.

Lopez Sanchez MIG, Kearns LS, Staffieri SE, Clarke L, McGuinness MB, Meteoukki W, Samuel S, Ruddle JB, Chen C, Fraser CL, Harrison J, Hewitt AW, Howell N, Mackey DA. Lopez Sanchez MIG, et al. Among authors: howell n. Am J Hum Genet. 2021 Nov 4;108(11):2159-2170. doi: 10.1016/j.ajhg.2021.09.015. Epub 2021 Oct 19. Am J Hum Genet. 2021. PMID: 34670133 Free PMC article.

3

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Mackey D, Howell N. Mackey D, et al. Among authors: howell n. Am J Hum Genet. 1992 Dec;51(6):1218-28. Am J Hum Genet. 1992. PMID: 1463007 Free PMC article.

4

Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus.

Mackey DA, Fingert JH, Luzhansky JZ, McCluskey PJ, Howell N, Hall AJ, Pierce AB, Hoy JF. Mackey DA, et al. Among authors: howell n. Eye (Lond). 2003 Apr;17(3):312-7. doi: 10.1038/sj.eye.6700362. Eye (Lond). 2003. PMID: 12724691

5

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.

Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I. Howell N, et al. J Neuroophthalmol. 2002 Dec;22(4):262-9. doi: 10.1097/00041327-200212000-00002. J Neuroophthalmol. 2002. PMID: 12464729

6

Tobacco amblyopia.

Mackey D, Howell N. Mackey D, et al. Among authors: howell n. Am J Ophthalmol. 1994 Jun 15;117(6):817-9. doi: 10.1016/s0002-9394(14)70337-x. Am J Ophthalmol. 1994. PMID: 8198176 No abstract available.

7

How rapidly does the human mitochondrial genome evolve?

Howell N, Kubacka I, Mackey DA. Howell N, et al. Am J Hum Genet. 1996 Sep;59(3):501-9. Am J Hum Genet. 1996. PMID: 8751850 Free PMC article.

8

The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.

Howell N, Smejkal CB, Mackey DA, Chinnery PF, Turnbull DM, Herrnstadt C. Howell N, et al. Am J Hum Genet. 2003 Mar;72(3):659-70. doi: 10.1086/368264. Epub 2003 Feb 4. Am J Hum Genet. 2003. PMID: 12571803 Free PMC article.

9

Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.

Howell N, Herrnstadt C, Shults C, Mackey DA. Howell N, et al. Am J Med Genet A. 2003 Jun 1;119A(2):147-51. doi: 10.1002/ajmg.a.20135. Am J Med Genet A. 2003. PMID: 12749053

10

Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy.

Howell N, Mackey DA. Howell N, et al. Am J Hum Genet. 1998 Oct;63(4):1220-4. doi: 10.1086/302049. Am J Hum Genet. 1998. PMID: 9867707 Free PMC article. No abstract available.

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