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Page 1
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: comi a. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
Survey of aspirin use in Sturge-Weber syndrome.
Bay MJ, Kossoff EH, Lehmann CU, Zabel TA, Comi AM. Bay MJ, et al. J Child Neurol. 2011 Jun;26(6):692-702. doi: 10.1177/0883073810388646. Epub 2011 Mar 22. J Child Neurol. 2011. PMID: 21427442
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. Scala M, et al. Among authors: comi am. Brain. 2020 Apr 1;143(4):e31. doi: 10.1093/brain/awaa070. Brain. 2020. PMID: 32227164 Free PMC article. No abstract available.
Sturge-Weber syndrome: updates in translational neurology.
Solomon C, Comi A. Solomon C, et al. Among authors: comi a. Front Neurol. 2024 Dec 2;15:1493873. doi: 10.3389/fneur.2024.1493873. eCollection 2024. Front Neurol. 2024. PMID: 39687400 Free PMC article. Review.
Pathophysiology of Sturge-Weber syndrome.
Comi AM. Comi AM. J Child Neurol. 2003 Aug;18(8):509-16. doi: 10.1177/08830738030180080701. J Child Neurol. 2003. PMID: 13677575 Review.
Central hypothyroidism and Sturge-Weber syndrome.
Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. Comi AM, et al. Pediatr Neurol. 2008 Jul;39(1):58-62. doi: 10.1016/j.pediatrneurol.2008.03.018. Pediatr Neurol. 2008. PMID: 18555176
137 results