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664 results

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A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak A, Diegmann S, Dreha-Kulaczewski S, Wiśniewski J, Duda P, Ohlenbusch A, Huppke B, Henneke M, Höhne W, Altmüller J, Thiele H, Nürnberg P, Rakus D, Gärtner J, Huppke P. Gizak A, et al. Among authors: gartner j. Brain Commun. 2021 Mar 11;3(2):fcab036. doi: 10.1093/braincomms/fcab036. eCollection 2021. Brain Commun. 2021. PMID: 33977262 Free PMC article.
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Among authors: gartner j. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J. Henneke M, et al. Among authors: gartner j. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732
Visually self-induced seizures sensitive to round objects.
Brockmann K, Huppke P, Karenfort M, Gärtner J, Höger C. Brockmann K, et al. Among authors: gartner j. Epilepsia. 2005 May;46(5):786-9. doi: 10.1111/j.1528-1167.2005.54004.x. Epilepsia. 2005. PMID: 15857450 Free article.
Perisylvian polymicrogyria in Landau-Kleffner syndrome.
Huppke P, Kallenberg K, Gärtner J. Huppke P, et al. Among authors: gartner j. Neurology. 2005 May 10;64(9):1660. doi: 10.1212/01.WNL.0000160386.79347.4A. Neurology. 2005. PMID: 15883344 No abstract available.
664 results