Nikoskelainen E - Search Results

1

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

Juvonen V, Nikoskelainen E, Lamminen T, Penttinen M, Aula P, Savontaus ML. Juvonen V, et al. Among authors: nikoskelainen e. Hum Mutat. 1997;9(5):412-7. doi: 10.1002/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5. Hum Mutat. 1997. PMID: 9143920

2

Genetic counseling in Leber hereditary optic neuropathy (LHON).

Huoponen K, Puomila A, Savontaus ML, Mustonen E, Kronqvist E, Nikoskelainen E. Huoponen K, et al. Among authors: nikoskelainen e. 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.

3

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families.

Puomila A, Viitanen T, Savontaus ML, Nikoskelainen E, Huoponen K. Puomila A, et al. Among authors: nikoskelainen e. J Neurol Sci. 2002 Dec 15;205(1):41-5. doi: 10.1016/s0022-510x(02)00276-9. J Neurol Sci. 2002. PMID: 12409182

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: 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

5

Gene defects in Leber hereditary optic neuroretinopathy.

Savontaus ML, Huoponen K, Majander A, Aula P, Nikoskelainen EK. Savontaus ML, et al. Among authors: nikoskelainen ek. Biochim Biophys Acta. 1992 Jul 17;1101(2):204-5. Biochim Biophys Acta. 1992. PMID: 1633186 Review. No abstract available.

6

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.

7

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.

8

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.

9

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.

Huoponen K, Vilkki J, Savontaus ML, Aula P, Nikoskelainen EK. Huoponen K, et al. Among authors: nikoskelainen ek. Genomics. 1990 Nov;8(3):583-5. doi: 10.1016/0888-7543(90)90049-z. Genomics. 1990. PMID: 2286378

10

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

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