Pihko H - Search Results

1

Five new cases of a recently described leukoencephalopathy with high brain lactate.

Linnankivi T, Lundbom N, Autti T, Häkkinen AM, Koillinen H, Kuusi T, Lönnqvist T, Sainio K, Valanne L, Aärimaa T, Pihko H. Linnankivi T, et al. Among authors: pihko h. Neurology. 2004 Aug 24;63(4):688-92. doi: 10.1212/01.wnl.0000134658.35601.41. Neurology. 2004. PMID: 15326244

2

Recessive twinkle mutations cause severe epileptic encephalopathy.

Lönnqvist T, Paetau A, Valanne L, Pihko H. Lönnqvist T, et al. Among authors: pihko h. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20. Brain. 2009. PMID: 19304794

3

Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients.

Santavuori P, Valanne L, Autti T, Haltia M, Pihko H, Sainio K. Santavuori P, et al. Among authors: pihko h. Eur J Paediatr Neurol. 1998;2(1):41-7. doi: 10.1016/1090-3798(98)01004-1. Eur J Paediatr Neurol. 1998. PMID: 10726845

4

Cerebroretinal microangiopathy with calcifications and cysts.

Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T, Lönnqvist T, Mäkitie O, Pääkkönen L, Vainionpää L, Vanninen R, Herva R, Pihko H. Linnankivi T, et al. Among authors: pihko h. Neurology. 2006 Oct 24;67(8):1437-43. doi: 10.1212/01.wnl.0000236999.63933.b0. Epub 2006 Aug 30. Neurology. 2006. PMID: 16943371

5

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H. Linnankivi T, et al. Among authors: pihko h. Am J Med Genet A. 2006 Feb 15;140(4):331-9. doi: 10.1002/ajmg.a.31072. Am J Med Genet A. 2006. PMID: 16419126

6

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H. Anttonen AK, et al. Among authors: pihko h. Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115735 Free PMC article.

7

Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness.

Lönnqvist T, Pihko H. Lönnqvist T, et al. Among authors: pihko h. Neuromuscul Disord. 2003 Dec;13(10):827-9. doi: 10.1016/s0960-8966(03)00134-2. Neuromuscul Disord. 2003. PMID: 14678806

8

Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency.

Roomets E, Lundbom N, Pihko H, Heikkinen S, Tyni T. Roomets E, et al. Among authors: pihko h. Neurology. 2006 Oct 24;67(8):1516-7. doi: 10.1212/01.wnl.0000240118.82937.ed. Neurology. 2006. PMID: 17060594 No abstract available.

9

Dominant encephalopathy mimicking mitochondrial disease.

Lönnqvist T, Isohanni P, Valanne L, Olli-Lähdesmäki T, Suomalainen A, Pihko H. Lönnqvist T, et al. Among authors: pihko h. Neurology. 2011 Jan 4;76(1):101-3. doi: 10.1212/WNL.0b013e318203e908. Neurology. 2011. PMID: 21205700 No abstract available.

10

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H. Isohanni P, et al. Among authors: pihko h. Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25. Neurology. 2011. PMID: 21357833

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