Huoponen K - Search Results

1

Leber hereditary optic neuropathy: clinical and molecular genetic findings.

Huoponen K. Huoponen K. Neurogenetics. 2001 Jul;3(3):119-25. doi: 10.1007/s100480100115. Neurogenetics. 2001. PMID: 11523562 Review.

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. 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

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

4

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

5

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations.

Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Nikoskelainen EK, et al. Among authors: huoponen k. Ophthalmology. 1996 Mar;103(3):504-14. doi: 10.1016/s0161-6420(96)30665-9. Ophthalmology. 1996. PMID: 8600429

6

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

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

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.

9

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus ML. Nikoskelainen EK, et al. Among authors: huoponen k. J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):160-4. doi: 10.1136/jnnp.59.2.160. J Neurol Neurosurg Psychiatry. 1995. PMID: 7629530 Free PMC article.

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

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