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Year Number of Results
2001 1
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2019 3
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2021 5
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18 results
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Page 1
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, Zamponi GW, Lerche H, Mefford HC. Helbig KL, et al. Among authors: kichula e. 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.
Nusinersen Treatment in Adults With Spinal Muscular Atrophy.
Duong T, Wolford C, McDermott MP, Macpherson CE, Pasternak A, Glanzman AM, Martens WB, Kichula E, Darras BT, De Vivo DC, Zolkipli-Cunningham Z, Finkel RS, Zeineh M, Wintermark M, Sampson J, Hagerman KA, Young SD, Day JW. Duong T, et al. Among authors: kichula e. Neurol Clin Pract. 2021 Jun;11(3):e317-e327. doi: 10.1212/CPJ.0000000000001033. Neurol Clin Pract. 2021. PMID: 34476123 Free PMC article.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Muni Lofra R, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Trucco F, et al. Among authors: kichula ea. Neurology. 2021 Jan 26;96(4):e587-e599. doi: 10.1212/WNL.0000000000011051. Epub 2020 Oct 16. Neurology. 2021. PMID: 33067401 Free PMC article.
Friedreich Ataxia: Multidisciplinary Clinical Care.
Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY. Lynch DR, et al. Among authors: kichula e. J Multidiscip Healthc. 2021 Jun 28;14:1645-1658. doi: 10.2147/JMDH.S292945. eCollection 2021. J Multidiscip Healthc. 2021. PMID: 34234452 Free PMC article. Review.
Pediatric Ataxia: Focus on Chronic Disorders.
Lynch DR, McCormick A, Schadt K, Kichula E. Lynch DR, et al. Among authors: kichula e. Semin Pediatr Neurol. 2018 Apr;25:54-64. doi: 10.1016/j.spen.2018.01.001. Epub 2018 Jan 5. Semin Pediatr Neurol. 2018. PMID: 29735117 Review.
Etravirine in Friedreich's ataxia: Lessons from HIV?
Lynch DR, Schadt K, Kichula E. Lynch DR, et al. Among authors: kichula e. Mov Disord. 2019 Mar;34(3):305-306. doi: 10.1002/mds.27605. Epub 2019 Jan 10. Mov Disord. 2019. PMID: 30629768 No abstract available.
Challenges ahead for trials in Friedreich's ataxia.
Lynch DR, Kichula E. Lynch DR, et al. Among authors: kichula e. Lancet Neurol. 2016 Dec;15(13):1300-1301. doi: 10.1016/S1474-4422(16)30281-2. Lancet Neurol. 2016. PMID: 27839636 No abstract available.
18 results