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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. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
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.
Pseudo Status Cataplecticus in Narcolepsy Type 1.
Meinen CN, Smith KM, Tillema JM, Kotagal S. Meinen CN, et al. Among authors: tillema jm. J Clin Sleep Med. 2018 Sep 15;14(9):1625-1627. doi: 10.5664/jcsm.7350. J Clin Sleep Med. 2018. PMID: 30176979 Free PMC article.
A fatal case of malignant atrophic papulosis in a pediatric patient.
Schaefer LS, Wampler Muskardin T, Tillema JM, Wieland C, Tollefson MM. Schaefer LS, et al. Among authors: tillema jm. Pediatr Dermatol. 2022 Jan;39(1):112-114. doi: 10.1111/pde.14878. Epub 2021 Dec 21. Pediatr Dermatol. 2022. PMID: 34935194
Leukoencephalopathies in adulthood.
Tillema JM, Renaud DL. Tillema JM, et al. Semin Neurol. 2012 Feb;32(1):85-94. doi: 10.1055/s-0032-1306391. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422211 Review.
Familial History of Autoimmune Disorders Among Patients With Pediatric Multiple Sclerosis.
Greenberg BM, Casper TC, Mar SS, Ness JM, Plumb P, Liang S, Goyal M, Weinstock-Guttman B, Rodriguez M, Aaen GS, Belman A, Barcellos LF, Rose JW, Gorman MP, Benson LA, Candee M, Chitnis T, Harris YC, Kahn IL, Roalstad S, Hart J, Lotze TE, Rensel M, Rubin JP, Schreiner TL, Tillema JM, Waldman AT, Krupp L, Graves J, Drake K, Waubant E. Greenberg BM, et al. Among authors: tillema jm. Neurol Neuroimmunol Neuroinflamm. 2021 Aug 5;8(5):e1049. doi: 10.1212/NXI.0000000000001049. Print 2021 Sep. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34353894 Free PMC article.
100 results