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Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis.
Horton MK, Shim JE, Wallace A, Graves JS, Aaen G, Greenberg B, Mar S, Wheeler Y, Weinstock-Guttman B, Waldman A, Schreiner T, Rodriguez M, Tillema JM, Chitnis T, Krupp L, Casper TC, Rensel M, Hart J, Quach HL, Quach DL, Schaefer C, Waubant E, Barcellos LF. Horton MK, et al. Among authors: tillema jm. Mult Scler. 2023 Apr;29(4-5):505-511. doi: 10.1177/13524585221150736. Epub 2023 Feb 8. Mult Scler. 2023. PMID: 36755464 Free PMC article.
Predictive models in the diagnosis and treatment of autoimmune epilepsy.
Dubey D, Singh J, Britton JW, Pittock SJ, Flanagan EP, Lennon VA, Tillema JM, Wirrell E, Shin C, So E, Cascino GD, Wingerchuk DM, Hoerth MT, Shih JJ, Nickels KC, McKeon A. Dubey D, et al. Among authors: tillema jm. Epilepsia. 2017 Jul;58(7):1181-1189. doi: 10.1111/epi.13797. Epub 2017 May 26. Epilepsia. 2017. PMID: 28555833
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: tillema jm. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
Functional MRI of language lateralization during development in children.
Holland SK, Vannest J, Mecoli M, Jacola LM, Tillema JM, Karunanayaka PR, Schmithorst VJ, Yuan W, Plante E, Byars AW. Holland SK, et al. Among authors: tillema jm. Int J Audiol. 2007 Sep;46(9):533-51. doi: 10.1080/14992020701448994. Int J Audiol. 2007. PMID: 17828669 Free PMC article.
The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody.
Höftberger R, Guo Y, Flanagan EP, Lopez-Chiriboga AS, Endmayr V, Hochmeister S, Joldic D, Pittock SJ, Tillema JM, Gorman M, Lassmann H, Lucchinetti CF. Höftberger R, et al. Among authors: tillema jm. Acta Neuropathol. 2020 May;139(5):875-892. doi: 10.1007/s00401-020-02132-y. Epub 2020 Feb 11. Acta Neuropathol. 2020. PMID: 32048003 Free PMC article.
100 results