Vainionpää L - Search Results

1

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR. Helbig KL, et al. Among authors: vainionpaa l. Ann Neurol. 2016 Oct;80(4):638-42. doi: 10.1002/ana.24762. Epub 2016 Sep 9. Ann Neurol. 2016. PMID: 27543892 Free PMC article.

2

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE. Polvi A, et al. Among authors: vainionpaa l. Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387016 Free PMC article.

3

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.

Knuutinen O, Kousi M, Suo-Palosaari M, Moilanen JS, Tuominen H, Vainionpää L, Joensuu T, Anttonen AK, Uusimaa J, Lehesjoki AE, Vieira P. Knuutinen O, et al. Among authors: vainionpaa l. Neuropediatrics. 2018 Aug;49(4):256-261. doi: 10.1055/s-0038-1649500. Epub 2018 May 25. Neuropediatrics. 2018. PMID: 29801191

4

Cerebral palsy is characterized by protein mediators in cord serum.

Kaukola T, Satyaraj E, Patel DD, Tchernev VT, Grimwade BG, Kingsmore SF, Koskela P, Tammela O, Vainionpää L, Pihko H, Aärimaa T, Hallman M. Kaukola T, et al. Among authors: vainionpaa l. Ann Neurol. 2004 Feb;55(2):186-94. doi: 10.1002/ana.10809. Ann Neurol. 2004. PMID: 14755722

5

Magnetic resonance imaging of periventricular leukomalacia and its clinical correlation in children.

Olsén P, Pääkkö E, Vainionpää L, Pyhtinen J, Järvelin MR. Olsén P, et al. Among authors: vainionpaa l. Ann Neurol. 1997 Jun;41(6):754-61. doi: 10.1002/ana.410410611. Ann Neurol. 1997. PMID: 9189036

6

Valproate-induced hyperandrogenism during pubertal maturation in girls with epilepsy.

Vainionpää LK, Rättyä J, Knip M, Tapanainen JS, Pakarinen AJ, Lanning P, Tekay A, Myllylä VV, Isojärvi JI. Vainionpää LK, et al. Ann Neurol. 1999 Apr;45(4):444-50. doi: 10.1002/1531-8249(199904)45:4<444::aid-ana5>3.0.co;2-6. Ann Neurol. 1999. PMID: 10211468

7

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

Uusimaa J, Moilanen JS, Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen T, Mäki-Torkko E, Rantala H, Majamaa K. Uusimaa J, et al. Among authors: vainionpaa l. Ann Neurol. 2007 Sep;62(3):278-87. doi: 10.1002/ana.21196. Ann Neurol. 2007. PMID: 17823937

8

Long-term reproductive endocrine health in young women with epilepsy during puberty.

Mikkonen K, Vainionpää LK, Pakarinen AJ, Knip M, Järvelä IY, Tapanainen JS, Isojärvi JI. Mikkonen K, et al. Among authors: vainionpaa lk. Neurology. 2004 Feb 10;62(3):445-50. doi: 10.1212/01.wnl.0000106942.35533.62. Neurology. 2004. PMID: 14872028

9

Vincristine therapy for children with acute lymphoblastic leukemia impairs conduction in the entire peripheral nerve.

Vainionpää L, Kovala T, Tolonen U, Lanning M. Vainionpää L, et al. Pediatr Neurol. 1995 Nov;13(4):314-8. doi: 10.1016/0887-8994(95)00191-3. Pediatr Neurol. 1995. PMID: 8771166

10

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

Varho T, Jääskeläinen S, Tolonen U, Sonninen P, Vainionpää L, Aula P, Sillanpää M. Varho T, et al. Among authors: vainionpaa l. Neurology. 2000 Jul 12;55(1):99-104. doi: 10.1212/wnl.55.1.99. Neurology. 2000. PMID: 10891913

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