Nikoskelainen E - Search Results

1

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: nikoskelainen e. 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.

2

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: nikoskelainen e. 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.

3

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: nikoskelainen e. 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

4

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

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

5

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

Vilkki J, Savontaus ML, Nikoskelainen EK. Vilkki J, et al. Among authors: nikoskelainen ek. Am J Hum Genet. 1990 Jul;47(1):95-100. Am J Hum Genet. 1990. PMID: 1971999 Free PMC article.

6

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK. Vilkki J, et al. Among authors: nikoskelainen ek. Am J Hum Genet. 1991 Mar;48(3):486-91. Am J Hum Genet. 1991. PMID: 1998335 Free PMC article.

7

Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy.

Vilkki J, Savontaus ML, Kalimo H, Nikoskelainen EK. Vilkki J, et al. Among authors: nikoskelainen ek. Hum Genet. 1989 Jun;82(3):208-12. doi: 10.1007/BF00291155. Hum Genet. 1989. PMID: 2567271

8

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.

Vilkki J, Savontaus ML, Nikoskelainen EK. Vilkki J, et al. Among authors: nikoskelainen ek. Am J Hum Genet. 1989 Aug;45(2):206-11. Am J Hum Genet. 1989. PMID: 2757028 Free PMC article.

9

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

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

10

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. Among authors: nikoskelainen e. Hum Genet. 1993 Oct;92(4):379-84. doi: 10.1007/BF01247339. Hum Genet. 1993. PMID: 7901141

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