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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Rice GI, et al. Among authors: mar ss. Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10. Neuropediatrics. 2017. PMID: 28561207 Free PMC article.
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: mar ss. 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.
CSF and Blood Levels of GFAP in Alexander Disease.
Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A. Jany PL, et al. eNeuro. 2015 Oct 1;2(5):ENEURO.0080-15.2015. doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep. eNeuro. 2015. PMID: 26478912 Free PMC article.
Evaluating the association of allergies with multiple sclerosis susceptibility risk and disease activity in a pediatric population.
Bourne T, Waltz M, Casper TC, Kavak K, Aaen G, Belman A, Benson L, Candee M, Chitnis T, Graves J, Greenberg B, Gorman M, Harris Y, Krupp L, Lotze T, Mar S, Ness J, Olsen C, Roalstad S, Rodriguez M, Rose J, Rubin J, Schreiner T, Tillema JM, Kahn I, Waldman A, Barcellos L, Waubant E, Weinstock-Guttman B; US Network of Pediatric MS Centers. Bourne T, et al. J Neurol Sci. 2017 Apr 15;375:371-375. doi: 10.1016/j.jns.2017.02.041. Epub 2017 Feb 20. J Neurol Sci. 2017. PMID: 28320170 Free PMC article.
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. 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.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Hijazi H, et al. Among authors: mar ss. Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14. Hum Mutat. 2020. PMID: 31448840 Free PMC article.
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