Peltonen L - Search Results

1

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L. Nikali K, et al. Among authors: peltonen l. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Hum Mol Genet. 2005. PMID: 16135556

2

cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia.

Nikali K, Saharinen J, Peltonen L. Nikali K, et al. Among authors: peltonen l. Gene. 2002 Oct 16;299(1-2):111-5. doi: 10.1016/s0378-1119(02)01019-3. Gene. 2002. PMID: 12459258

3

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I. Kuokkanen M, et al. Among authors: peltonen l. Am J Hum Genet. 2006 Feb;78(2):339-44. doi: 10.1086/500053. Epub 2005 Dec 15. Am J Hum Genet. 2006. PMID: 16400612 Free PMC article.

4

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.

Enattah NS, Jensen TG, Nielsen M, Lewinski R, Kuokkanen M, Rasinpera H, El-Shanti H, Seo JK, Alifrangis M, Khalil IF, Natah A, Ali A, Natah S, Comas D, Mehdi SQ, Groop L, Vestergaard EM, Imtiaz F, Rashed MS, Meyer B, Troelsen J, Peltonen L. Enattah NS, et al. Among authors: peltonen l. Am J Hum Genet. 2008 Jan;82(1):57-72. doi: 10.1016/j.ajhg.2007.09.012. Am J Hum Genet. 2008. PMID: 18179885 Free PMC article.

5

The genome-wide patterns of variation expose significant substructure in a founder population.

Jakkula E, Rehnström K, Varilo T, Pietiläinen OP, Paunio T, Pedersen NL, deFaire U, Järvelin MR, Saharinen J, Freimer N, Ripatti S, Purcell S, Collins A, Daly MJ, Palotie A, Peltonen L. Jakkula E, et al. Among authors: peltonen l. Am J Hum Genet. 2008 Dec;83(6):787-94. doi: 10.1016/j.ajhg.2008.11.005. Am J Hum Genet. 2008. PMID: 19061986 Free PMC article.

6

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A. Luoma P, et al. Among authors: peltonen l. Lancet. 2004 Sep 4-10;364(9437):875-82. doi: 10.1016/S0140-6736(04)16983-3. Lancet. 2004. PMID: 15351195

7

Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.

Pakkasjärvi N, Gentile M, Saharinen J, Honkanen J, Herva R, Peltonen L, Kestilä M. Pakkasjärvi N, et al. Among authors: peltonen l. J Neurobiol. 2005 Dec;65(3):269-81. doi: 10.1002/neu.20185. J Neurobiol. 2005. PMID: 16155903

8

Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects.

Hennah W, Varilo T, Kestilä M, Paunio T, Arajärvi R, Haukka J, Parker A, Martin R, Levitzky S, Partonen T, Meyer J, Lönnqvist J, Peltonen L, Ekelund J. Hennah W, et al. Among authors: peltonen l. Hum Mol Genet. 2003 Dec 1;12(23):3151-9. doi: 10.1093/hmg/ddg341. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532331

9

Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity.

Pietiläinen KH, Naukkarinen J, Rissanen A, Saharinen J, Ellonen P, Keränen H, Suomalainen A, Götz A, Suortti T, Yki-Järvinen H, Oresic M, Kaprio J, Peltonen L. Pietiläinen KH, et al. Among authors: peltonen l. PLoS Med. 2008 Mar 11;5(3):e51. doi: 10.1371/journal.pmed.0050051. PLoS Med. 2008. PMID: 18336063 Free PMC article.

10

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. Visapää I, et al. Among authors: peltonen l. Am J Hum Genet. 2002 Oct;71(4):863-76. doi: 10.1086/342773. Epub 2002 Sep 5. Am J Hum Genet. 2002. PMID: 12215968 Free PMC article.

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