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

Por Vilkki, J, Savontaus, M L, Nikoskelainen, E K
Publicado em 1989

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

Por Vilkki, J, Savontaus, M L, Nikoskelainen, E K
Publicado em 1990

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

Por Juvonen, V, Vilkki, J, Aula, P, Nikoskelainen, E, Savontaus, M L
Publicado em 1993

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

Por Vilkki, J, Ott, J, Savontaus, M L, Aula, P, Nikoskelainen, E K
Publicado em 1991

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Por Huoponen, K, Vilkki, J, Aula, P, Nikoskelainen, E K, Savontaus, M L
Publicado em 1991

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

Por Silander, K, Halonen, P, Sara, R, Kalimo, H, Falck, B, Savontaus, M L
Publicado em 1994

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

Por Suomalainen, A, Majander, A, Haltia, M, Somer, H, Lönnqvist, J, Savontaus, M L, Peltonen, L
Publicado em 1992

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

Por Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L., Savontaus, M. L.
Publicado em 1996

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

Por Nikoskelainen, E K, Marttila, R J, Huoponen, K, Juvonen, V, Lamminen, T, Sonninen, P, Savontaus, M L
Publicado em 1995

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

Por Lauteala, T, Sistonen, P, Savontaus, M L, Mykkänen, J, Simell, J, Lukkarinen, M, Simell, O, Aula, P
Publicado em 1997

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

Por Salmela, E, Taskinen, O, Seppänen, J K, Sistonen, P, Daly, M J, Lahermo, P, Savontaus, M‐L, Kere, J
Publicado em 2006

Classification of European Mtdnas from an Analysis of Three European Populations

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

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

Por Saviranta, P, Lindlöf, M, Lehesjoki, A E, Kalimo, H, Lang, H, Sonninen, V, Savontaus, M L, de la Chapelle, A
Publicado em 1988

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

Por Haataja, L., Schleutker, J., Laine, A. P., Renlund, M., Savontaus, M. L., Dib, C., Weissenbach, J., Peltonen, L., Aula, P.
Publicado em 1994

Reply to Hofmann et al.

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

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

Por 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
Publicado em 1998

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

Por 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.
Publicado em 1989