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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1994 1
1996 2
1998 1
1999 3
2001 2
2003 5
2004 1
2005 8
2006 5
2007 7
2008 8
2009 7
2010 9
2011 4
2012 6
2013 14
2014 4
2015 7
2016 7
2017 6
2018 6
2019 10
2020 8
2021 10
2022 7
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126 results
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Page 1
Sturge-Weber syndrome.
Comi AM. Comi AM. Handb Clin Neurol. 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1. Handb Clin Neurol. 2015. PMID: 26564078 Review.
Sirolimus Treatment in Sturge-Weber Syndrome.
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM. Sebold AJ, et al. Among authors: comi am. Pediatr Neurol. 2021 Feb;115:29-40. doi: 10.1016/j.pediatrneurol.2020.10.013. Epub 2020 Nov 2. Pediatr Neurol. 2021. PMID: 33316689 Free PMC article.
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Shirley MD, et al. Among authors: comi am. N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8. N Engl J Med. 2013. PMID: 23656586 Free PMC article.
Current Therapeutic Options in Sturge-Weber Syndrome.
Comi A. Comi A. Semin Pediatr Neurol. 2015 Dec;22(4):295-301. doi: 10.1016/j.spen.2015.10.005. Epub 2015 Nov 11. Semin Pediatr Neurol. 2015. PMID: 26706016 Free PMC article. Review.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: comi a. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: comi am. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Sturge-weber syndrome.
Bachur CD, Comi AM. Bachur CD, et al. Among authors: comi am. Curr Treat Options Neurol. 2013 Oct;15(5):607-17. doi: 10.1007/s11940-013-0253-6. Curr Treat Options Neurol. 2013. PMID: 23907585 Free PMC article.
Atherosclerotic-nephropathy: an updated narrative review.
Simeoni M, Borrelli S, Garofalo C, Fuiano G, Esposito C, Comi A, Provenzano M. Simeoni M, et al. Among authors: comi a. J Nephrol. 2021 Feb;34(1):125-136. doi: 10.1007/s40620-020-00733-0. Epub 2020 Apr 8. J Nephrol. 2021. PMID: 32270411 Review.
Updates on Sturge-Weber Syndrome.
Yeom S, Comi AM. Yeom S, et al. Among authors: comi am. Stroke. 2022 Dec;53(12):3769-3779. doi: 10.1161/STROKEAHA.122.038585. Epub 2022 Oct 20. Stroke. 2022. PMID: 36263782 Review.
Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.
Comi AM, Sahin M, Hammill A, Kaplan EH, Juhász C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES; 2015 Sturge-Weber Syndrome Research Workshop. Comi AM, et al. Pediatr Neurol. 2016 May;58:12-24. doi: 10.1016/j.pediatrneurol.2015.11.009. Epub 2016 Mar 16. Pediatr Neurol. 2016. PMID: 27268758 Free PMC article.
126 results