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2012

Vasli,

Vasli N, Laugel V, Bohm J, Lannes B, Biancalana V, Laporte J: Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype. Eur J Hum Genet 2012, 20:701-704.

 

Vasli N, Bohm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, et al: Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 2012, 124:273-283.

 

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, et al: Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes. J Med Genet 2012, 49:502-512.

 

 Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, et al: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet 2012, 44:975-977.

 

Mockel A, Obringer C, Hakvoort TB, Seeliger M, Lamers WH, Stoetzel C, Dollfus H, Marion V: Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. J Biol Chem 2012, 287:37483-37494.

 

Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, Helle S, Delague V, Souied E, Barrey C, et al: Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet 2012, 49:317-321.

 

Marion V, Mockel A, De Melo C, Obringer C, Claussmann A, Simon A, Messaddeq N, Durand M, Dupuis L, Loeffler JP, et al: BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Cell Metab 2012, 16:363-377.

 

Magnin E, Allibert R, Berger E, Dollfus H, Rumbach L: Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation. Eur Neurol 2012, 67:287.

 

Leger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, et al: Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet 2012, 20:584-587.

 

Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, et al: Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. J Inherit Metab Dis 2012, 35:737-747.