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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Among authors: mclean r. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Thomas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke RD, Woodruff G, Langmann A, Lindner S, Jain S, Tarpey P, Raymond FL, Gottlob I. Thomas S, et al. Among authors: mclean r. Brain. 2008 May;131(Pt 5):1259-67. doi: 10.1093/brain/awn046. Epub 2008 Mar 27. Brain. 2008. PMID: 18372314
The prevalence of nystagmus: the Leicestershire nystagmus survey.
Sarvananthan N, Surendran M, Roberts EO, Jain S, Thomas S, Shah N, Proudlock FA, Thompson JR, McLean RJ, Degg C, Woodruff G, Gottlob I. Sarvananthan N, et al. Among authors: mclean rj. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5201-6. doi: 10.1167/iovs.09-3486. Epub 2009 May 20. Invest Ophthalmol Vis Sci. 2009. PMID: 19458336
Vertical optokinetic nystagmus in Parkinson's disease.
Knapp CM, Gottlob I, McLean RJ, Rajabally YA, Abbott RJ, Rafelt S, Proudlock FA. Knapp CM, et al. Mov Disord. 2009 Jul 30;24(10):1533-8. doi: 10.1002/mds.22634. Mov Disord. 2009. PMID: 19514011
The pharmacological treatment of nystagmus: a review.
McLean RJ, Gottlob I. McLean RJ, et al. Expert Opin Pharmacother. 2009 Aug;10(11):1805-16. doi: 10.1517/14656560902978446. Expert Opin Pharmacother. 2009. PMID: 19601699 Review.
1,058 results