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MR of a nasal glioma in a young infant.
Jartti PH, Jartti AE, Karttunen AI, Pääkkö EL, Herva RL, Pirilä TO. Jartti PH, et al. Acta Radiol. 2002 Mar;43(2):141-3. Acta Radiol. 2002. PMID: 12010290
Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.
Remes AM, Finnilä S, Mononen H, Tuominen H, Takalo R, Herva R, Majamaa K. Remes AM, et al. Neurology. 2004 Jul 27;63(2):234-40. doi: 10.1212/01.wnl.0000129988.68657.fa. Neurology. 2004. PMID: 15277614
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V. Ahvenainen T, et al. Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010. Cancer Genet Cytogenet. 2008. PMID: 18503824
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A. Götz A, et al. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26. Brain. 2008. PMID: 18819985
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T. Hakonen AH, et al. Brain. 2007 Nov;130(Pt 11):3032-40. doi: 10.1093/brain/awm242. Epub 2007 Oct 5. Brain. 2007. PMID: 17921179
A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.
Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, Hassinen IE, Majamaa K. Uusimaa J, et al. Pediatrics. 2003 Mar;111(3):e262-8. doi: 10.1542/peds.111.3.e262. Pediatrics. 2003. PMID: 12612282
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. 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
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K. Uusimaa J, et al. Epilepsia. 2008 Jun;49(6):1038-45. doi: 10.1111/j.1528-1167.2008.01544.x. Epub 2008 Feb 20. Epilepsia. 2008. PMID: 18294203
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