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365 results

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Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A. Stogmann E, et al. Among authors: strom tm. Brain. 2013 Apr;136(Pt 4):1155-60. doi: 10.1093/brain/awt068. Epub 2013 Mar 21. Brain. 2013. PMID: 23518707
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A. Stogmann E, et al. Among authors: strom tm. Neurogenetics. 2009 Feb;10(1):73-7. doi: 10.1007/s10048-008-0153-1. Epub 2008 Oct 11. Neurogenetics. 2009. PMID: 18850119
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
Greisenegger EK, Llufriu S, Chamorro A, Cervera A, Jimenez-Escrig A, Rappersberger K, Marik W, Greisenegger S, Stögmann E, Kopp T, Strom TM, Henes J, Joutel A, Zimprich A. Greisenegger EK, et al. Among authors: strom tm. J Neurol. 2021 Mar;268(3):810-816. doi: 10.1007/s00415-020-10081-5. Epub 2020 Sep 26. J Neurol. 2021. PMID: 32980981 Free PMC article.
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM. Zimprich A, et al. Among authors: strom tm. Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008. Am J Hum Genet. 2011. PMID: 21763483 Free PMC article.
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: strom tm. Neurogenetics. 2006 Nov;7(4):265-8. doi: 10.1007/s10048-006-0057-x. Epub 2006 Aug 24. Neurogenetics. 2006. PMID: 16932951
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller JC, Illig T, Wichmann HE, Lichtner P, Meitinger T, Strom TM, Zimprich A, Zimprich F. Schlachter K, et al. Among authors: strom tm. Neurology. 2009 Mar 17;72(11):974-8. doi: 10.1212/01.wnl.0000344401.02915.00. Neurology. 2009. PMID: 19289736
365 results