Järvelä I - Search Results

1

[18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis.

Ruottinen HM, Rinne JO, Haaparanta M, Solin O, Bergman J, Oikonen VJ, Järvelä I, Santavuori P. Ruottinen HM, et al. Among authors: jarvela i. J Neurol Neurosurg Psychiatry. 1997 Jun;62(6):622-5. doi: 10.1136/jnnp.62.6.622. J Neurol Neurosurg Psychiatry. 1997. PMID: 9219750 Free PMC article.

2

Molecular genetics of neuronal ceroid lipofuscinoses.

Järvelä I, Vesa J, Santavuori P, Hellsten E, Peltonen L. Järvelä I, et al. Pediatr Res. 1992 Dec;32(6):645-8. doi: 10.1203/00006450-199212000-00003. Pediatr Res. 1992. PMID: 1287553 Review.

3

[Gene localization will explain the basic causes of neuronal ceroid lipofuscinoses].

Järvelä I, Palotie L, Santavuori P, Rapola J. Järvelä I, et al. Duodecim. 1991;107(8):632-5. Duodecim. 1991. PMID: 1364917 Review. Finnish. No abstract available.

4

Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p.

Järvelä I, Santavuori P, Puhakka L, Haltia M, Peltonen L. Järvelä I, et al. Am J Med Genet. 1992 Feb 15;42(4):546-8. doi: 10.1002/ajmg.1320420425. Am J Med Genet. 1992. PMID: 1609836

5

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.

Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, et al. Järvelä I, et al. Genomics. 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. Genomics. 1991. PMID: 1672288

6

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

Järvelä I, Rapola J, Peltonen L, Puhakka L, Vesa J, Ammälä P, Salonen R, Ryynänen M, Haring P, Mustonen A, et al. Järvelä I, et al. Prenat Diagn. 1991 May;11(5):323-8. doi: 10.1002/pd.1970110508. Prenat Diagn. 1991. PMID: 1680233

7

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE. Mitchison HM, et al. Among authors: jarvela ie. Am J Hum Genet. 1995 Mar;56(3):654-62. Am J Hum Genet. 1995. PMID: 7887419 Free PMC article.

8

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.

Vesa J, Hellsten E, Mäkelä TP, Järvelä I, Airaksinen T, Santavuori P, Peltonen L. Vesa J, et al. Among authors: jarvela i. Eur J Hum Genet. 1993;1(2):125-32. doi: 10.1159/000472399. Eur J Hum Genet. 1993. PMID: 7914464

9

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. Among authors: jarvela i. Am J Hum Genet. 1994 Oct;55(4):695-701. Am J Hum Genet. 1994. PMID: 7942847 Free PMC article.

10

A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.

Williams R, Santavuori P, Peltonen L, Gardiner RM, Järvelä I. Williams R, et al. Among authors: jarvela i. Genomics. 1994 Mar 15;20(2):289-90. doi: 10.1006/geno.1994.1168. Genomics. 1994. PMID: 8020979

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