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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1979 3
1980 1
1983 2
1984 1
1985 2
1987 1
1990 1
1992 3
1993 6
1994 6
1995 5
1996 8
1997 1
1998 8
1999 7
2000 4
2001 2
2002 6
2003 5
2004 2
2005 4
2006 7
2007 7
2008 2
2009 6
2010 5
2011 3
2012 5
2013 8
2014 3
2015 5
2016 6
2017 4
2018 6
2019 6
2020 4
2021 5
2022 0
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Search Results

156 results
Results by year
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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: rozet jm. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Congenital Microcoria: Clinical Features and Molecular Genetics.
Angée C, Nedelec B, Erjavec E, Rozet JM, Fares Taie L. Angée C, et al. Among authors: rozet jm. Genes (Basel). 2021 Apr 22;12(5):624. doi: 10.3390/genes12050624. Genes (Basel). 2021. PMID: 33922078 Free PMC article. Review.
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: rozet jm. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154
Leber congenital amaurosis.
Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Among authors: rozet jm. Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906. Mol Genet Metab. 1999. PMID: 10527670 Review.
[Hereditary macular dystrophies].
Rozet JM, Gerber S, Ducroq D, Hamel C, Dufier JL, Kaplan J. Rozet JM, et al. J Fr Ophtalmol. 2005 Jan;28(1):113-24. doi: 10.1016/s0181-5512(05)81033-2. J Fr Ophtalmol. 2005. PMID: 15767907 Review. French.
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.
Gerber S, Orssaud C, Kaplan J, Johansson C, Rozet JM. Gerber S, et al. Among authors: rozet jm. Genes (Basel). 2021 Apr 2;12(4):521. doi: 10.3390/genes12040521. Genes (Basel). 2021. PMID: 33918393 Free PMC article.
Implication of non-coding PAX6 mutations in aniridia.
Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, Ayuso C, Chassaing N, Calvas P, Corton M. Plaisancié J, et al. Among authors: rozet jm. Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5. Hum Genet. 2018. PMID: 30291432
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Among authors: rozet jm. Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. Brain. 2018. PMID: 29529130 No abstract available.
156 results