Suomalainen A - Search Results

1

Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.

Vuopala K, Mäkelä-Bengs P, Suomalainen A, Herva R, Leisti J, Peltonen L. Vuopala K, et al. Among authors: suomalainen a. J Med Genet. 1995 Jan;32(1):36-8. doi: 10.1136/jmg.32.1.36. J Med Genet. 1995. PMID: 7897624 Free PMC article.

2

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.

Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipilä M, Herva R, Palotie A, Peltonen L. Mäkelä-Bengs P, et al. Among authors: suomalainen a. Am J Hum Genet. 1998 Aug;63(2):506-16. doi: 10.1086/301968. Am J Hum Genet. 1998. PMID: 9683599 Free PMC article.

3

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L. Nikali K, et al. Among authors: suomalainen a. Am J Hum Genet. 1995 May;56(5):1088-95. Am J Hum Genet. 1995. PMID: 7726163 Free PMC article.

4

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M. Kaukonen JA, et al. Among authors: suomalainen a. Am J Hum Genet. 1996 Apr;58(4):763-9. Am J Hum Genet. 1996. PMID: 8644740 Free PMC article.

5

LCCS: a lethal motoneuron disease of the fetus maps to chromosome 9q34.

Järvinen N, Mäkelä-Bengs P, Suomalainen A, Vuopala K, Herva R, Palotie A, Peltonen L. Järvinen N, et al. Among authors: suomalainen a. Ann N Y Acad Sci. 1998 Oct 23;857:260-2. doi: 10.1111/j.1749-6632.1998.tb10127.x. Ann N Y Acad Sci. 1998. PMID: 9917852 No abstract available.

6

An autosomal locus predisposing to deletions of mitochondrial DNA.

Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L. Suomalainen A, et al. Nat Genet. 1995 Feb;9(2):146-51. doi: 10.1038/ng0295-146. Nat Genet. 1995. PMID: 7719341

7

Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias.

Nikali K, Koskinen T, Suomalainen A, Pihko H, Peltonen L. Nikali K, et al. Among authors: suomalainen a. Pediatr Res. 1994 Nov;36(5):607-12. doi: 10.1203/00006450-199411000-00012. Pediatr Res. 1994. PMID: 7877879

8

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.

Suomalainen A, Majander A, Pihko H, Peltonen L, Syvänen AC. Suomalainen A, et al. Hum Mol Genet. 1993 May;2(5):525-34. doi: 10.1093/hmg/2.5.525. Hum Mol Genet. 1993. PMID: 8518790

9

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus.

Varilo T, Nikali K, Suomalainen A, Lönnqvist T, Peltonen L. Varilo T, et al. Among authors: suomalainen a. Genome Res. 1996 Sep;6(9):870-5. doi: 10.1101/gr.6.9.870. Genome Res. 1996. PMID: 8889554 Free article.

10

Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome.

Mäkelä-Bengs P, Suomalainen A, Majander A, Rapola J, Kalimo H, Nuutila A, Pihko H. Mäkelä-Bengs P, et al. Among authors: suomalainen a. Pediatr Res. 1995 May;37(5):634-9. doi: 10.1203/00006450-199505000-00014. Pediatr Res. 1995. PMID: 7603783

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