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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
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
Oculomotor disorders.
Rucker JC.
Semin Neurol. 2007 Jul;27(3):244-56. doi: 10.1055/s-2007-979682.
PMID:17577866
[Nystagmus the diagnosis of vertigo and dizziness].
Johkura K.
Brain Nerve. 2013 Sep;65(9):1057-69.
PMID:24018742
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