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CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El-Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: meunier i. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. Hum Mutat. 2021. PMID: 33538369 Review.
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Bocquet B, et al. Among authors: meunier i. Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890. Ophthalmic Epidemiol. 2013. PMID: 23350551
Mutations in IMPG1 cause vitelliform macular dystrophies.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP. Manes G, et al. Among authors: meunier i. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993198 Free PMC article.
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA. Michalakis S, et al. Among authors: meunier i. Hum Mol Genet. 2014 Mar 15;23(6):1538-50. doi: 10.1093/hmg/ddt541. Epub 2013 Oct 26. Hum Mol Genet. 2014. PMID: 24163243 Free PMC article.
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP. Manes G, et al. Among authors: meunier i. Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5. Am J Ophthalmol. 2015. PMID: 25447119 Free article.
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP. Charif M, et al. Among authors: meunier i. Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26061759
Clinical Evaluation and Cone Alterations in Choroideremia.
Nabholz N, Lorenzini MC, Bocquet B, Lacroux A, Faugère V, Roux AF, Kalatzis V, Meunier I, Hamel CP. Nabholz N, et al. Among authors: meunier i. Ophthalmology. 2016 Aug;123(8):1830-1832. doi: 10.1016/j.ophtha.2016.02.025. Epub 2016 Mar 15. Ophthalmology. 2016. PMID: 26992839 No abstract available.
139 results