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

nork Vilkki, J, Savontaus, M L, Nikoskelainen, E K
Argitaratua 1989

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

nork Vilkki, J, Savontaus, M L, Nikoskelainen, E K
Argitaratua 1990

Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)

nork Juvonen, V, Vilkki, J, Aula, P, Nikoskelainen, E, Savontaus, M L
Argitaratua 1993

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

nork Vilkki, J, Ott, J, Savontaus, M L, Aula, P, Nikoskelainen, E K
Argitaratua 1991

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

nork Huoponen, K, Vilkki, J, Aula, P, Nikoskelainen, E K, Savontaus, M L
Argitaratua 1991

DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

nork Silander, K, Halonen, P, Sara, R, Kalimo, H, Falck, B, Savontaus, M L
Argitaratua 1994

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.

nork Suomalainen, A, Majander, A, Haltia, M, Somer, H, Lönnqvist, J, Savontaus, M L, Peltonen, L
Argitaratua 1992

The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.

nork Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L., Savontaus, M. L.
Argitaratua 1996

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

nork Nikoskelainen, E K, Marttila, R J, Huoponen, K, Juvonen, V, Lamminen, T, Sonninen, P, Savontaus, M L
Argitaratua 1995

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

nork Lauteala, T, Sistonen, P, Savontaus, M L, Mykkänen, J, Simell, J, Lukkarinen, M, Simell, O, Aula, P
Argitaratua 1997

Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes

nork Salmela, E, Taskinen, O, Seppänen, J K, Sistonen, P, Daly, M J, Lahermo, P, Savontaus, M‐L, Kere, J
Argitaratua 2006

Classification of European Mtdnas from an Analysis of Three European Populations

nork Torroni, A., Huoponen, K., Francalacci, P., Petrozzi, M., Morelli, L., Scozzari, R., Obinu, D., Savontaus, M. L., Wallace, D. C.
Argitaratua 1996

Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.

nork Saviranta, P, Lindlöf, M, Lehesjoki, A E, Kalimo, H, Lang, H, Sonninen, V, Savontaus, M L, de la Chapelle, A
Argitaratua 1988

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

nork Haataja, L., Schleutker, J., Laine, A. P., Renlund, M., Savontaus, M. L., Dib, C., Weissenbach, J., Peltonen, L., Aula, P.
Argitaratua 1994

Reply to Hofmann et al.

nork Mackey, D, Oostra, R J, Rosenberg, T, Nikoskelainen, E, Poulton, J, Barratt, T, Bolhuis, P, Norby, S, Savontaus, M L, Chan, C, Howell, N
Argitaratua 1998

mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe.

nork Torroni, A, Bandelt, H J, D'Urbano, L, Lahermo, P, Moral, P, Sellitto, D, Rengo, C, Forster, P, Savontaus, M L, Bonné-Tamir, B, Scozzari, R
Argitaratua 1998

The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion

nork Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Müller, C. R., Lindlöf, M., Kaariainen, H., de la Chapelle, A., Kiuru, A., Savontaus, M.-L., Gilgenkrantz, H., Récan, D., Chelly, J., Kaplan, J.-C., Covone, A. E., Archidiacono, N., Romeo, G., Liechti-Gallati, S., Schneider, V., Braga, S., Moser, H., Darras, B. T., Murphy, P., Francke, U., Chen, J. D., Morgan, G., Denton, M., Greenberg, C. R., Wrogemann, K., Blonden, L. A. J., van Paassen, H. M. B., van Ommen, G. J. B., Kunkel, L. M.
Argitaratua 1989