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Page 1
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: gerber s. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.
Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, et al. Kaplan J, et al. Among authors: gerber s. Genomics. 1992 Dec;14(4):979-87. doi: 10.1016/s0888-7543(05)80120-x. Genomics. 1992. PMID: 1478676
A gene for Leber's congenital amaurosis maps to chromosome 17p.
Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C, et al. Camuzat A, et al. Among authors: gerber s. Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447. Hum Mol Genet. 1995. PMID: 7581387
Genetic heterogeneity of Usher syndrome type 1 in French families.
Larget-Piet D, Gerber S, Bonneau D, Rozet JM, Marc S, Ghazi I, Dufier JL, David A, Bitoun P, Weissenbach J, et al. Larget-Piet D, et al. Among authors: gerber s. Genomics. 1994 May 1;21(1):138-43. doi: 10.1006/geno.1994.1235. Genomics. 1994. PMID: 8088781
1,032 results