Huoponen K - Search Results

1

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: huoponen k. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 Free PMC article.

2

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: huoponen k. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.

3

A rare mitochondrial DNA haplotype observed in Koreans.

Snäll N, Savontaus ML, Kares S, Lee MS, Cho EK, Rinne JO, Huoponen K. Snäll N, et al. Among authors: huoponen k. Hum Biol. 2002 Apr;74(2):253-62. doi: 10.1353/hub.2002.0024. Hum Biol. 2002. PMID: 12030653

4

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.

Puomila A, Hämäläinen P, Kivioja S, Savontaus ML, Koivumäki S, Huoponen K, Nikoskelainen E. Puomila A, et al. Among authors: huoponen k. Eur J Hum Genet. 2007 Oct;15(10):1079-89. doi: 10.1038/sj.ejhg.5201828. Epub 2007 Apr 4. Eur J Hum Genet. 2007. PMID: 17406640

5

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. Huoponen K, et al. Am J Hum Genet. 1991 Jun;48(6):1147-53. Am J Hum Genet. 1991. PMID: 1674640 Free PMC article.

6

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML. Huoponen K, et al. Hum Genet. 1993 Oct;92(4):379-84. doi: 10.1007/BF01247339. Hum Genet. 1993. PMID: 7901141

7

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing.

Juvonen V, Huoponen K, Syvänen AC, Nikoskelainen E, Savontaus ML. Juvonen V, et al. Among authors: huoponen k. Hum Genet. 1994 Jan;93(1):16-20. doi: 10.1007/BF00218906. Hum Genet. 1994. PMID: 8270249

8

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.

Lamminen T, Huoponen K, Sistonen P, Juvonen V, Lahermo P, Aula P, Nikoskelainen E, Savontaus ML. Lamminen T, et al. Among authors: huoponen k. Eur J Hum Genet. 1997 Sep-Oct;5(5):271-9. Eur J Hum Genet. 1997. PMID: 9412783

9

Genetic counseling in Leber hereditary optic neuropathy (LHON).

Huoponen K, Puomila A, Savontaus ML, Mustonen E, Kronqvist E, Nikoskelainen E. Huoponen K, et al. Acta Ophthalmol Scand. 2002 Feb;80(1):38-43. doi: 10.1034/j.1600-0420.2002.800108.x. Acta Ophthalmol Scand. 2002. PMID: 11906302 Free article.

10

Pre-excitation syndrome in Leber's hereditary optic neuropathy.

Nikoskelainen EK, Savontaus ML, Huoponen K, Antila K, Hartiala J. Nikoskelainen EK, et al. Among authors: huoponen k. Lancet. 1994 Sep 24;344(8926):857-8. doi: 10.1016/s0140-6736(94)92830-4. Lancet. 1994. PMID: 7916404

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