Anttonen AK - Search Results

1

Sodium Channel SCN3A (Na_V1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK. Smith RS, et al. Among authors: anttonen ak. Neuron. 2018 Sep 5;99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23. Neuron. 2018. PMID: 30146301 Free PMC article.

2

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. Siintola E, et al. Among authors: anttonen ak. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 May 14. Am J Hum Genet. 2007. PMID: 17564970 Free PMC article.

3

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE. Anttonen AK, et al. Eur J Hum Genet. 2008 Aug;16(8):961-9. doi: 10.1038/ejhg.2008.22. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285827

4

Digenic mutations in severe myoclonic epilepsy of infancy.

Bolszak M, Anttonen AK, Komulainen T, Hinttala R, Pakanen S, Sormunen R, Herva R, Lehesjoki AE, Majamaa K, Rantala H, Uusimaa J. Bolszak M, et al. Among authors: anttonen ak. Epilepsy Res. 2009 Aug;85(2-3):300-4. doi: 10.1016/j.eplepsyres.2009.03.004. Epub 2009 Apr 9. Epilepsy Res. 2009. PMID: 19359143

5

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

Sirén A, Polvi A, Chahine L, Labuda M, Bourgoin S, Anttonen AK, Kousi M, Hirvonen K, Simola KO, Andermann E, Laiho A, Soini J, Koivikko M, Laaksonen R, Pandolfo M, Lehesjoki AE. Sirén A, et al. Among authors: anttonen ak. Epilepsy Res. 2010 Jan;88(1):65-75. doi: 10.1016/j.eplepsyres.2009.09.022. Epub 2009 Nov 14. Epilepsy Res. 2010. PMID: 19914042

6

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

Gaily E, Anttonen AK, Valanne L, Liukkonen E, Träskelin AL, Polvi A, Lommi M, Muona M, Eriksson K, Lehesjoki AE. Gaily E, et al. Among authors: anttonen ak. Epilepsia. 2013 Sep;54(9):1577-85. doi: 10.1111/epi.12256. Epub 2013 Jun 28. Epilepsia. 2013. PMID: 23808377 Free article.

7

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Muona M, Fukata Y, Anttonen AK, Laari A, Palotie A, Pihko H, Lönnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki AE. Muona M, et al. Among authors: anttonen ak. Neurol Genet. 2016 Jan 21;2(1):e46. doi: 10.1212/NXG.0000000000000046. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066583 Free PMC article.

8

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. Anttonen AK, et al. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020

9

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Anttonen AK, Lehesjoki AE. Anttonen AK, et al. Brain. 2017 Aug 1;140(8):e50. doi: 10.1093/brain/awx157. Brain. 2017. PMID: 28899016 No abstract available.

10

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: anttonen ak. Neuropediatrics. 2018 Aug;49(4):256-261. doi: 10.1055/s-0038-1649500. Epub 2018 May 25. Neuropediatrics. 2018. PMID: 29801191

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