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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: holthausen h. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Among authors: holthausen h. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Møller RS, et al. Among authors: holthausen h. Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4. Neurology. 2017. PMID: 28053010 Free PMC article.
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Fluegel D, Winkler J. Aigner L, et al. Among authors: holthausen h. Neurology. 2003 Jan 28;60(2):329-32. doi: 10.1212/01.wnl.0000042091.90361.d2. Neurology. 2003. PMID: 12552055
Ictal motor signs and interictal regional cerebral hypometabolism.
Schlaug G, Antke C, Holthausen H, Arnold S, Ebner A, Tuxhorn I, Jäncke L, Lüders H, Witte OW, Seitz RJ. Schlaug G, et al. Among authors: holthausen h. Neurology. 1997 Aug;49(2):341-50. doi: 10.1212/wnl.49.2.341. Neurology. 1997. PMID: 9270560
Predicting hand function after hemidisconnection.
Küpper H, Kudernatsch M, Pieper T, Groeschel S, Tournier JD, Raffelt D, Winkler P, Holthausen H, Staudt M. Küpper H, et al. Among authors: holthausen h. Brain. 2016 Sep;139(Pt 9):2456-68. doi: 10.1093/brain/aww170. Epub 2016 Jul 6. Brain. 2016. PMID: 27383529
Clinical functional MRI of the language domain in children with epilepsy.
Wilke M, Pieper T, Lindner K, Dushe T, Staudt M, Grodd W, Holthausen H, Krägeloh-Mann I. Wilke M, et al. Among authors: holthausen h. Hum Brain Mapp. 2011 Nov;32(11):1882-93. doi: 10.1002/hbm.21156. Epub 2010 Dec 22. Hum Brain Mapp. 2011. PMID: 21181799 Free PMC article.
86 results