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Page 1
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: garcia garrido m. 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.
Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.
Alves CH, Pellissier LP, Vos RM, Garcia Garrido M, Sothilingam V, Seide C, Beck SC, Klooster J, Furukawa T, Flannery JG, Verhaagen J, Seeliger MW, Wijnholds J. Alves CH, et al. Among authors: garcia garrido m. Hum Mol Genet. 2014 Jul 1;23(13):3384-401. doi: 10.1093/hmg/ddu048. Epub 2014 Feb 2. Hum Mol Genet. 2014. PMID: 24493795
CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
Pellissier LP, Lundvig DM, Tanimoto N, Klooster J, Vos RM, Richard F, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J. Pellissier LP, et al. Among authors: garcia garrido m. Hum Mol Genet. 2014 Jul 15;23(14):3759-71. doi: 10.1093/hmg/ddu089. Epub 2014 Feb 23. Hum Mol Genet. 2014. PMID: 24565864
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam V, Garcia Garrido M, Jiao K, Buena-Atienza E, Sahaboglu A, Trifunović D, Balendran S, Koepfli T, Mühlfriedel R, Schön C, Biel M, Heckmann A, Beck SC, Michalakis S, Wissinger B, Seeliger MW, Paquet-Durand F. Sothilingam V, et al. Among authors: garcia garrido m. Hum Mol Genet. 2015 Oct 1;24(19):5486-99. doi: 10.1093/hmg/ddv275. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188004
Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.
Alves CH, Sanz AS, Park B, Pellissier LP, Tanimoto N, Beck SC, Huber G, Murtaza M, Richard F, Sridevi Gurubaran I, Garcia Garrido M, Levelt CN, Rashbass P, Le Bivic A, Seeliger MW, Wijnholds J. Alves CH, et al. Among authors: garcia garrido m. Hum Mol Genet. 2013 Jan 1;22(1):35-50. doi: 10.1093/hmg/dds398. Epub 2012 Sep 21. Hum Mol Genet. 2013. PMID: 23001562
53 results