NOVEL - Journal of Neuro-Ophthalmology
 
Filters: Collection: "ehsl_novel_jno" Subject: "Mutation"
1 - 25 of 11
Number of results to display per page
TitleCreatorDate
1 Acetazolamide-Induced Nephrolithiasis in Idiopathic Intracranial Hypertension PatientsJohnathan N. Au, MPH, Carin S. Waslo, MPH, Gerald McGwin Jr, PhD,Carrie Huisingh, MPH, Emanuel Tanne, MD2016-06
2 Lightning Strikes TwiceHowell, N; Miller, NR; Mackey, DA; Arnold, A; Herrnstadt, C; Williams, IM; Kubacka, I
3 A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM PhenotypeLuca Soliani , Carlotta Spagnoli, Grazia G Salerno, Miika Mehine, Susanna Rizzi, Daniele Frattini, Juha Koskenvuo, Carlo Fusco2021-03
4 First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 MutationsGalvez-Ruiz, Alberto; Neuhaus, Christine; Bergmann, Carsten; Bolz, Hanno
5 The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative StudyBenson S. Chen, Erik Holzinger, Magali Taiel, Patrick Yu-Wai-Man2022-09
6 Optic nerve sheath distention in Leber's optic neuropathy and the significance of the "Wallace mutation".Smith, J.L.; Tse, D.T.; Byrne, S.F.; Johns, D.R.; Stone, E.M.
7 Cuban epidemic optic neuropathy.Johns, DR; Alfredo A. Sadun, MD, PhD, Flora L. Thornton Chair, Professor of Ophthalmology and Neurological Surgery, Keck School of Medicine at USC1994-09
8 Continuous Remodeling of Adult Extraocular Muscles in Oculopharyngeal Muscular DystrophyWirtschafter, JD; Ferrington, DA; McLoon, LK
9 Do Idebenone and Vitamin Therapy Shorten the Time to Achieve Visual Recovery in Leber Hereditary Optic NeuropathyMashima, Y; Kigasawa, K; Wakakura, M; Oguchi, Y
10 The Eyes of Mito-MouseBiousse, V; Pardue, MT; Wallace, DC; Newman, NJ
11 The spinocerebellar ataxias.Paulson, Henry L
1 - 25 of 11