Hietala M - Search Results

1

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Müller JS, et al. Among authors: hietala m. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17. Brain. 2007. PMID: 17439981

2

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H. Schara U, et al. Among authors: hietala m. Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8. Eur J Paediatr Neurol. 2010. PMID: 19900826

3

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M, Riikonen R, Peltonen L, Järvelä I. Auranen M, et al. Among authors: hietala m. Neurology. 2001 Mar 13;56(5):611-7. doi: 10.1212/wnl.56.5.611. Neurology. 2001. PMID: 11245712

4

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.

Isoniemi A, Hietala M, Aula P, Jalanko A, Peltonen L. Isoniemi A, et al. Among authors: hietala m. Hum Mutat. 1995;5(4):318-26. doi: 10.1002/humu.1380050408. Hum Mutat. 1995. PMID: 7627186

5

Prospects of carrier screening of aspartylglucosaminuria in Finland.

Hietala M, Grön K, Syvänen AC, Peltonen L, Aula P. Hietala M, et al. Eur J Hum Genet. 1993;1(4):296-300. doi: 10.1159/000472427. Eur J Hum Genet. 1993. PMID: 8081942

6

Acceptance of genetic testing in a general population: age, education and gender differences.

Aro AR, Hakonen A, Hietala M, Lönnqvist J, Niemelä P, Peltonen L, Aula P. Aro AR, et al. Among authors: hietala m. Patient Educ Couns. 1997 Sep-Oct;32(1-2):41-9. doi: 10.1016/s0738-3991(97)00061-x. Patient Educ Couns. 1997. PMID: 9355571

7

Attitudes towards genetic testing: analysis of contradictions.

Jallinoja P, Hakonen A, Aro AR, Niemelä P, Hietala M, Lönnqvist J, Peltonen L, Aula P. Jallinoja P, et al. Among authors: hietala m. Soc Sci Med. 1998 May;46(10):1367-74. doi: 10.1016/s0277-9536(98)00017-3. Soc Sci Med. 1998. PMID: 9665567

8

DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.

Hietala M, Aula P, Syvänen AC, Isoniemi A, Peltonen L, Palotie A. Hietala M, et al. Clin Chem. 1996 Sep;42(9):1398-404. Clin Chem. 1996. PMID: 8787695

9

Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.

Hietala M, Hakonen A, Aro AR, Niemelä P, Peltonen L, Aula P. Hietala M, et al. Am J Hum Genet. 1995 Jun;56(6):1493-500. Am J Hum Genet. 1995. PMID: 7762573 Free PMC article.

10

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML. Juvonen V, et al. Among authors: hietala m. Ann Neurol. 2000 Sep;48(3):354-61. Ann Neurol. 2000. PMID: 10976642

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