Blandin G - Search Results

1

Identification of splicing defects caused by mutations in the dysferlin gene.

Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M. Kergourlay V, et al. Among authors: blandin g. Hum Mutat. 2014 Dec;35(12):1532-41. doi: 10.1002/humu.22710. Hum Mutat. 2014. PMID: 25312915

2

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. Blandin G, et al. Hum Mutat. 2012 Mar;33(3):E2317-31. doi: 10.1002/humu.22015. Epub 2011 Dec 29. Hum Mutat. 2012. PMID: 22213072

3

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Xi J, Blandin G, Lu J, Luo S, Zhu W, Béroud C, Pécheux C, Labelle V, Lévy N, Urtizberea JA, Zhao C, Krahn M. Xi J, et al. Among authors: blandin g. Neurol India. 2014 Nov-Dec;62(6):635-9. doi: 10.4103/0028-3886.149386. Neurol India. 2014. PMID: 25591676 Free article.

4

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides.

Kergourlay V, Blandin G, Blanck V, Lévy N, Bartoli M, Krahn M. Kergourlay V, et al. Among authors: blandin g. Ann Clin Transl Neurol. 2015 Jul;2(7):783-4. doi: 10.1002/acn3.216. Ann Clin Transl Neurol. 2015. PMID: 26273692 Free PMC article. No abstract available.

5

The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Guien C, Blandin G, Lahaut P, Sanson B, Nehal K, Rabarimeriarijaona S, Bernard R, Lévy N, Sacconi S, Béroud C. Guien C, et al. Among authors: blandin g. Orphanet J Rare Dis. 2018 Dec 4;13(1):218. doi: 10.1186/s13023-018-0960-x. Orphanet J Rare Dis. 2018. PMID: 30514324 Free PMC article.

6

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.

Blandin G, Marchand S, Charton K, Danièle N, Gicquel E, Boucheteil JB, Bentaib A, Barrault L, Stockholm D, Bartoli M, Richard I. Blandin G, et al. Skelet Muscle. 2013 Feb 15;3(1):3. doi: 10.1186/2044-5040-3-3. Skelet Muscle. 2013. PMID: 23414517 Free PMC article.

7

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

Sarparanta J, Blandin G, Charton K, Vihola A, Marchand S, Milic A, Hackman P, Ehler E, Richard I, Udd B. Sarparanta J, et al. Among authors: blandin g. J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15. J Biol Chem. 2010. PMID: 20634290 Free PMC article.

8

Evolution of non-LTR retrotransposons in the trypanosomatid genomes: Leishmania major has lost the active elements.

Bringaud F, Ghedin E, Blandin G, Bartholomeu DC, Caler E, Levin MJ, Baltz T, El-Sayed NM. Bringaud F, et al. Among authors: blandin g. Mol Biochem Parasitol. 2006 Feb;145(2):158-70. doi: 10.1016/j.molbiopara.2005.09.017. Epub 2005 Oct 10. Mol Biochem Parasitol. 2006. PMID: 16257065

9

Molecular evolution of eukaryotic genomes: hemiascomycetous yeast spliceosomal introns.

Bon E, Casaregola S, Blandin G, Llorente B, Neuvéglise C, Munsterkotter M, Guldener U, Mewes HW, Van Helden J, Dujon B, Gaillardin C. Bon E, et al. Among authors: blandin g. Nucleic Acids Res. 2003 Feb 15;31(4):1121-35. doi: 10.1093/nar/gkg213. Nucleic Acids Res. 2003. PMID: 12582231 Free PMC article.

10

The Trypanosoma cruzi L1Tc and NARTc non-LTR retrotransposons show relative site specificity for insertion.

Bringaud F, Bartholomeu DC, Blandin G, Delcher A, Baltz T, El-Sayed NM, Ghedin E. Bringaud F, et al. Among authors: blandin g. Mol Biol Evol. 2006 Feb;23(2):411-20. doi: 10.1093/molbev/msj046. Epub 2005 Nov 2. Mol Biol Evol. 2006. PMID: 16267142

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