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Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration.
Riikonen R, Somer M, Turpeinen U. Riikonen R, et al. Among authors: somer m. Epilepsia. 1999 Nov;40(11):1642-8. doi: 10.1111/j.1528-1157.1999.tb02051.x. Epilepsia. 1999. PMID: 10565594
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. Among authors: somer m. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020
Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E. Puomila A, et al. Among authors: somer m. Acta Ophthalmol Scand. 2005 Jun;83(3):337-46. doi: 10.1111/j.1600-0420.2005.00448.x. Acta Ophthalmol Scand. 2005. PMID: 15948788
Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.
Vanhatalo S, Somer M, Barth PG. Vanhatalo S, et al. Among authors: somer m. Neuropediatrics. 2002 Apr;33(2):100-4. doi: 10.1055/s-2002-32371. Neuropediatrics. 2002. PMID: 12075493
Diagnostic criteria and genetics of the PEHO syndrome.
Somer M. Somer M. J Med Genet. 1993 Nov;30(11):932-6. doi: 10.1136/jmg.30.11.932. J Med Genet. 1993. PMID: 8301648 Free PMC article.
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).
Salonen R, Somer M, Haltia M, Lorentz M, Norio R. Salonen R, et al. Among authors: somer m. Clin Genet. 1991 Apr;39(4):287-93. doi: 10.1111/j.1399-0004.1991.tb03027.x. Clin Genet. 1991. PMID: 2070547
Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome).
Haltia M, Somer M. Haltia M, et al. Among authors: somer m. Acta Neuropathol. 1993;85(3):241-7. doi: 10.1007/BF00227717. Acta Neuropathol. 1993. PMID: 8460530
Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome).
Somer M, Sainio K. Somer M, et al. Epilepsia. 1993 Jul-Aug;34(4):727-31. doi: 10.1111/j.1528-1157.1993.tb00453.x. Epilepsia. 1993. PMID: 8330584
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.
Somer M, Salonen O, Pihko H, Norio R. Somer M, et al. AJNR Am J Neuroradiol. 1993 Jul-Aug;14(4):861-7. AJNR Am J Neuroradiol. 1993. PMID: 8352158
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: somer m. Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115735 Free PMC article.
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