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dominant nystagmus相关文献:
A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene.
Hammar B, Paulsson S, Helgadottir HT, Albinsson J, Naumovska M, Sheikh R, Kvarnung M.
Neuroophthalmology. 2024 Apr 22;48(6):407-416. doi: 10.1080/01658107.2024.2338562. eCollection 2024.
PMID:39583022
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.
Yan N, Xiao L, Hou C, Guo B, Fan W, Deng Y, Ma K.
BMC Med Genet. 2019 Mar 19;20(1):41. doi: 10.1186/s12881-019-0780-4.
PMID:30890130
Micro chromosomal deletions at the NYS7 locus and autosomal dominant nystagmus.
Hecht I, Weiner C, Kotlyar A, Shoshany N, Pras E.
Exp Eye Res. 2023 May;230:109459. doi: 10.1016/j.exer.2023.109459. Epub 2023 Mar 30.
PMID:37001852
[Treatment options for nystagmus].
Tegetmeyer H.
Klin Monbl Augenheilkd. 2015 Feb;232(2):174-80. doi: 10.1055/s-0034-1368638. Epub 2014 Aug 14.
PMID:25121801
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
Seo Y, Lim HT, Lee BJ, Han J.
Am J Med Genet A. 2023 Feb;191(2):582-585. doi: 10.1002/ajmg.a.63037. Epub 2022 Nov 11.
PMID:36367250
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I.
Eur J Hum Genet. 2014 Mar;22(3):344-9. doi: 10.1038/ejhg.2013.162. Epub 2013 Aug 14.
PMID:23942204
Autosomal dominant vitreoretinochoroidopathy.
Roider J, Fritsch E, Hoerauf H, Heide W, Laqua H.
Retina. 1997;17(4):294-9. doi: 10.1097/00006982-199707000-00003.
PMID:9279944
Head-shaking nystagmus and new technology.
Hain TC.
Neurology. 2007 Apr 24;68(17):1333-4. doi: 10.1212/01.wnl.0000261902.31303.cf.
PMID:17452575
p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.
Li Y, Jiang L, Wang L, Wang C, Liu C, Guo A, Liu M, Zhang L, Ma C, Zhang X, Gao S, Liu JY.
Front Cell Dev Biol. 2020 Nov 4;8:591781. doi: 10.3389/fcell.2020.591781. eCollection 2020.
PMID:33251218
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E.
Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8.
PMID:29891079
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