Koenig M - Search Results

1

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.

Alame M, Lacourt D, Zenagui R, Mechin D, Danton F, Koenig M, Claustres M, Cossée M. Alame M, et al. Among authors: koenig m. J Mol Diagn. 2016 Sep;18(5):731-740. doi: 10.1016/j.jmoldx.2016.05.003. Epub 2016 Jul 16. J Mol Diagn. 2016. PMID: 27425820 Free article.

2

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M. Cossée M, et al. Among authors: koenig m. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7452-7. doi: 10.1073/pnas.94.14.7452. Proc Natl Acad Sci U S A. 1997. PMID: 9207112 Free PMC article.

3

Iron metabolism in mice with partial frataxin deficiency.

Santos MM, Miranda CJ, Levy JE, Montross LK, Cossée M, Sequeiros J, Andrews N, Koenig M, Pandolfo M. Santos MM, et al. Among authors: koenig m. Cerebellum. 2003;2(2):146-53. doi: 10.1080/14734220309408. Cerebellum. 2003. PMID: 12880182

4

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL. Cossée M, et al. Among authors: koenig m. Neuromuscul Disord. 2009 Apr;19(4):255-60. doi: 10.1016/j.nmd.2009.02.003. Epub 2009 Mar 19. Neuromuscul Disord. 2009. PMID: 19303295

5

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M. Guissart C, et al. Among authors: koenig m. Hum Mol Genet. 2015 Jan 15;24(2):463-70. doi: 10.1093/hmg/ddu461. Epub 2014 Sep 8. Hum Mol Genet. 2015. PMID: 25205112

6

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Liquori A, Vaché C, Baux D, Blanchet C, Hamel C, Malcolm S, Koenig M, Claustres M, Roux AF. Liquori A, et al. Among authors: koenig m. Hum Mutat. 2016 Feb;37(2):184-93. doi: 10.1002/humu.22926. Epub 2015 Nov 23. Hum Mutat. 2016. PMID: 26629787

7

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M. Guissart C, et al. Among authors: koenig m. Eur J Hum Genet. 2016 Aug;24(8):1154-9. doi: 10.1038/ejhg.2015.259. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669662 Free PMC article.

8

Assessment of the latest NGS enrichment capture methods in clinical context.

García-García G, Baux D, Faugère V, Moclyn M, Koenig M, Claustres M, Roux AF. García-García G, et al. Among authors: koenig m. Sci Rep. 2016 Feb 11;6:20948. doi: 10.1038/srep20948. Sci Rep. 2016. PMID: 26864517 Free PMC article.

9

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

Bergougnoux A, Boureau-Wirth A, Rouzier C, Altieri JP, Verneau F, Larrieu L, Koenig M, Claustres M, Raynal C. Bergougnoux A, et al. Among authors: koenig m. J Cyst Fibros. 2016 May;15(3):309-12. doi: 10.1016/j.jcf.2016.04.003. Epub 2016 Apr 23. J Cyst Fibros. 2016. PMID: 27117206 Free article.

10

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Renaud M, Guissart C, Mallaret M, Ferdinandusse S, Cheillan D, Drouot N, Muller J, Claustres M, Tranchant C, Anheim M, Koenig M. Renaud M, et al. Among authors: koenig m. J Neurol. 2016 Aug;263(8):1552-8. doi: 10.1007/s00415-016-8167-3. Epub 2016 May 26. J Neurol. 2016. PMID: 27230853

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