NOVEL - Journal of Neuro-Ophthalmology
 
Filters: Collection: "ehsl_novel_jno" Subject: "Mutation" Year Start: 1953
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TitleCreatorDate
1 Conversion to Leber Hereditary Optic Neuropathy After Hyperbaric Oxygen TherapyKirill Zaslavsky; Laura Donaldson; Edward Margolin2023-09
2 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
3 Papilledema and Cerebral Venous Sinus Thrombosis Due to JAK2 MutationO. Zloto; L. Aharon; I. Ben-Bassat Mizrachi; A. Kesler; P. A. Quiros; R. Huna-Baron2022-03
4 Papilledema and Extensive Dural Sinus Thrombosis Due to JAK2 MutationEli Kisilevsky; Eugene Yu; Edward Margolin2021-09
5 Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) PhenotypeFiruzeh Rajabian; Maria Pia Manitto; Flavia Palombo; Leonardo Caporali; Alessio Grazioli; Vincenzo Starace; Alessandro Arrigo; Maria Lucia Cascavilla; Chiara La Morgia; Piero Barboni; Francesco Bandello; Valerio Carelli; Maurizio Battaglia Parodi2021-09
6 Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5Konstantinos A. A. Douglas; Vivian Paraskevi Douglas; Eric D. Gaier; Bart K. Chwalisz2021-09
7 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
8 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
9 Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051GA mtDNA MutationVasily M. Smirnov, MD; Jean-Marie Cuisset, MD; Caroline Marks, MD; Philippe Debruyne, MSc; Claire-Marie Dhaenens, PharmD, PhD; Sabine Defoort- Dhellemmes, MD2020-12
10 Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic NeuropathyMaria Rizk, MD; Ibrahim Dunya, MD; Georges Azar, MD; Roland Seif, MD; Andre Megarbane, MD; Ama Sadaka, MD2020-12
11 Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic NeuropathyEmily Li; Valentina Emmanuele; Francine Testa; Cristiane De Araujo Martins Moreno; Michio Hirano; Robert L. Lesser2020-09
12 Prothrombin G20210A Mutation Causing Nonarteritic Anterior Ischemic Optic Neuropathy in a Young PatientMani Karthik Kumar; Mansha Daswani; Virna M. Shah2020-09
13 A Rare Mutation Associated With Probable Late-Onset Leber's Hereditary Optic NeuropathyJacob J. Fondriest; Karl C. Golnik2020-09
14 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
15 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
16 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
17 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
18 Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic SpectrumAbdullah S. Alamri; Daniah A. Alshowaeir; Ali A. AlFaiz; Fatimah H. Al Mousawi; Adel A. Mahmoud; Aqeela H. Alhashim2019-09
19 Infantile Presentation of Leber Hereditary Optic Neuropathy 'Plus' DiseaseHelena Zakrzewski; Milad Modabber; Nagwa Wilson; Walla Al-Hertani; Daniela Toffoli2019-06
20 Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation.Shilei Cui; MD; Hanqiu Jiang; MD; PhD; Jingting Peng; MD; PhD;Jiawei Wang; MD; PhD; Xiaojun Zhang; MD; PhD2019-03
21 Leber Hereditary Optic Neuropathy in a Mother and Daughter Associated With m.10197G>A MutationOmar Solyman; Peter MacIntosh2019-03
22 Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape VerdeNadine B. P. S. Mendes Marques, MD; Sandra R. Barros, MD; Ana F. Miranda, MD; João Nobre Cardoso, MD; Sónia Parreira, MD; Teresa Fonseca, MD; Nelvia M. Donaire, MD; Nuno Campos, PhD2017-06
23 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
24 Cuban Epidemic Optic NeuropathyDonald R. Johns, MD; Alfredo A. Sadun, MD, PhD1996-09
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