Savukoski M - Search Results

1

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. Savukoski M, et al. Nat Genet. 1998 Jul;19(3):286-8. doi: 10.1038/975. Nat Genet. 1998. PMID: 9662406

2

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L. Savukoski M, et al. Am J Hum Genet. 1994 Oct;55(4):695-701. Am J Hum Genet. 1994. PMID: 7942847 Free PMC article.

3

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I. Varilo T, et al. Among authors: savukoski m. Am J Hum Genet. 1996 Mar;58(3):506-12. Am J Hum Genet. 1996. PMID: 8644710 Free PMC article.

4

Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

Klockars T, Savukoski M, Isosomppi J, Laan M, Järvelä I, Petrukhin K, Palotie A, Peltonen L. Klockars T, et al. Among authors: savukoski m. Genomics. 1996 Jul 1;35(1):71-8. doi: 10.1006/geno.1996.0324. Genomics. 1996. PMID: 8661106 Free article.

5

Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.

Klockars T, Savukoski M, Isosomppi J, Peltonen L. Klockars T, et al. Among authors: savukoski m. Mol Genet Metab. 1999 Apr;66(4):324-8. doi: 10.1006/mgme.1999.2832. Mol Genet Metab. 1999. PMID: 10191122

6

Transcript identification on the CLN5 region on chromosome 13q22.

Klockars T, Holmberg V, Savukoski M, Lander ES, Peltonen L. Klockars T, et al. Among authors: savukoski m. Hum Genet. 1999 Jul-Aug;105(1-2):51-6. doi: 10.1007/s004399900069. Hum Genet. 1999. PMID: 10480355

7

Genetics of the neuronal ceroid lipofuscinoses.

Peltonen L, Savukoski M, Vesa J. Peltonen L, et al. Among authors: savukoski m. Curr Opin Genet Dev. 2000 Jun;10(3):299-305. doi: 10.1016/s0959-437x(00)00086-1. Curr Opin Genet Dev. 2000. PMID: 10826995 Review.

8

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).

Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, Hofman I, Peltonen L, Järvelä I. Holmberg V, et al. Among authors: savukoski m. Neurology. 2000 Aug 22;55(4):579-81. doi: 10.1212/wnl.55.4.579. Neurology. 2000. PMID: 10953198

9

Studies of homogenous populations: CLN5 and CLN8.

Ranta S, Savukoski M, Santavuori P, Haltia M. Ranta S, et al. Among authors: savukoski m. Adv Genet. 2001;45:123-40. doi: 10.1016/s0065-2660(01)45007-3. Adv Genet. 2001. PMID: 11332769 Review.

10

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.

Sharp J, Savukoski M, Wheeler RB, Harris J, Järvelä I, Peltonen L, Gardiner M, Williams R. Sharp J, et al. Among authors: savukoski m. Am J Med Genet. 1995 Jun 5;57(2):348-9. doi: 10.1002/ajmg.1320570249. Am J Med Genet. 1995. PMID: 7668361

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