NOVEL - Journal of Neuro-Ophthalmology
 
Filters: Collection: "ehsl_novel_jno" Subject: "Mutation"
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1 Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6.Chaim B. Colen, Anastasia, Ketko, Edwin Georgem, Gregory P. Van Stavern, MD, Associate Professor, Ophthalmology & Visual Sciences and Neurology, Washington University School of Medicine
2 Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6.Chaim B. Colen, Anastasia, Ketko, Edwin Georgem, Gregory P. Van Stavern, MD, Associate Professor, Ophthalmology & Visual Sciences and Neurology, Washington University School of Medicine
3 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic NeuropathyShuo Yang; Chen Chen; Jia-Jia Yuan; Shuai-Shuai Wang; Xing Wan; Heng He; Si-Qi Ma; Bin Li2020-03
4 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic NeuropathyShuo Yang; Chen Chen; Jia-Jia Yuan; Shuai-Shuai Wang; Xing Wan; Heng He; Si-Qi Ma; Bin Li2020-03
5 Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations- Report of Patients in ArabiaSalih, Mustafa A; Oystreck, Darren T; Al-Faky, Yasser H; Kabiraj, Mohammed; Omer, Mohamed I A; Subahi, Elamin M; Beeson, David; Abu-Amero, Khaled K; Bosley, Thomas M
6 Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase DeficiencyElizabeth R. Kellom; Barry Wolf; Gregory M. Rice; Kimberly E. Stepien2021-03
7 Lack of Differences Among Mitochondrial DNA in Family Members with Lebers Hereditary Optic Neuropathy and Differing Visual OutcomesMashima, Y; Hiida, Y; Oguchi, Y
8 Optic Atrophy and a Leigh-Like Syndrome Due to Mutations in the C12orf65 Gene: Report of a Novel Mutation and Review of the LiteratureHeidary, Gena; Calderwood, Laurel; Cox, Gerald F; Robson, Caroline D; Teot, Lisa A; Mullon, Jennifer; Anselm, Irina
9 Prothrombin G20210A Mutation Causing Nonarteritic Anterior Ischemic Optic Neuropathy in a Young PatientMani Karthik Kumar; Mansha Daswani; Virna M. Shah2020-09
10 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA MutationsShilei Cui; Ling Yang; Hanqiu Jiang; Jingting Peng; Jun Shang; Jiawei Wang; Xiaojun Zhang2020-03
11 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA MutationsShilei Cui; Ling Yang; Hanqiu Jiang; Jingting Peng; Jun Shang; Jiawei Wang; Xiaojun Zhang2020-03
12 Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel VariantSanja Petrović Pajić; Maja Suštar Habjan; Jelka Brecelj; Ana Fakin; Marija Volk; Aleš Maver; Gregor Jezernik; Borut Peterlin; Damjan Glavač; Marko Hawlina; Martina Jarc-Vidmar2023-09
13 Lightning Strikes TwiceHowell, N; Miller, NR; Mackey, DA; Arnold, A; Herrnstadt, C; Williams, IM; Kubacka, I
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