Hirvasniemi A - Search Results

1

High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.

Ranta S, Lehesjoki AE, de Fatima Bonaldo M, Knowles JA, Hirvasniemi A, Ross B, de Jong PJ, Soares MB, de la Chapelle A, Gilliam TC. Ranta S, et al. Among authors: hirvasniemi a. Genome Res. 1997 Sep;7(9):887-96. doi: 10.1101/gr.7.9.887. Genome Res. 1997. PMID: 9314494 Free article.

2

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

Ranta S, Lehesjoki AE, Hirvasniemi A, Weissenbach J, Ross B, Leal SM, de la Chapelle A, Gilliam TC. Ranta S, et al. Among authors: hirvasniemi a. Genome Res. 1996 May;6(5):351-60. doi: 10.1101/gr.6.5.351. Genome Res. 1996. PMID: 8743986 Free PMC article.

3

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J. Hirvasniemi A, et al. J Med Genet. 1994 Mar;31(3):177-82. doi: 10.1136/jmg.31.3.177. J Med Genet. 1994. PMID: 8014963 Free PMC article.

4

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.

Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki AE, de la Chapelle A. Tahvanainen E, et al. Among authors: hirvasniemi a. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):7267-70. doi: 10.1073/pnas.91.15.7267. Proc Natl Acad Sci U S A. 1994. PMID: 8041778 Free PMC article.

5

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE. Ranta S, et al. Among authors: hirvasniemi a. Nat Genet. 1999 Oct;23(2):233-6. doi: 10.1038/13868. Nat Genet. 1999. PMID: 10508524

6

Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.

Ranta S, Zhang Y, Ross B, Takkunen E, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE. Ranta S, et al. Among authors: hirvasniemi a. Eur J Hum Genet. 2000 May;8(5):381-4. doi: 10.1038/sj.ejhg.5200440. Eur J Hum Genet. 2000. PMID: 10854099

7

[Northern epilepsy and the gene error behind it].

Ranta S, Hirvasniemi A, Herva R, Haltia M, Lehesjoki AE. Ranta S, et al. Among authors: hirvasniemi a. Duodecim. 2002;118(15):1551-8. Duodecim. 2002. PMID: 12244629 Review. Finnish. No abstract available.

8

Northern epilepsy syndrome: clinical course and the effect of medication on seizures.

Hirvasniemi A, Herrala P, Leisti J. Hirvasniemi A, et al. Epilepsia. 1995 Aug;36(8):792-7. doi: 10.1111/j.1528-1157.1995.tb01616.x. Epilepsia. 1995. PMID: 7635097

9

Neuroradiological findings in the northern epilepsy syndrome.

Hirvasniemi A, Karumo J. Hirvasniemi A, et al. Acta Neurol Scand. 1994 Dec;90(6):388-93. doi: 10.1111/j.1600-0404.1994.tb02746.x. Acta Neurol Scand. 1994. PMID: 7892756

10

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.

Herva R, Tyynelä J, Hirvasniemi A, Syrjäkallio-Ylitalo M, Haltia M. Herva R, et al. Among authors: hirvasniemi a. Brain Pathol. 2000 Apr;10(2):215-22. doi: 10.1111/j.1750-3639.2000.tb00255.x. Brain Pathol. 2000. PMID: 10764041 Free PMC article.

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