Cossée M - Search Results

1

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. 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

2

Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Dürr A, et al. Among authors: cossee m. N Engl J Med. 1996 Oct 17;335(16):1169-75. doi: 10.1056/NEJM199610173351601. N Engl J Med. 1996. PMID: 8815938 Free article.

3

[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands].

Cossée M, Moutou C, Biancalana V, Bouix JC, Plessis G, Delobel B, Croquette MF, Gilgenkrantz S, Lambert JC, Malpuech G, Stoll C, Lanoe JL, Pechevis M, Mandel JL. Cossée M, et al. Arch Pediatr. 1997 Mar;4(3):227-36. doi: 10.1016/s0929-693x(97)87235-1. Arch Pediatr. 1997. PMID: 9181015 French.

4

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. 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.

5

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.

Zühlke C, Laccone F, Cossée M, Kohlschütter A, Koenig M, Schwinger E. Zühlke C, et al. Among authors: cossee m. Hum Genet. 1998 Jul;103(1):102-5. doi: 10.1007/s004390050791. Hum Genet. 1998. PMID: 9737785

6

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622

7

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.

Cossée M, Puccio H, Gansmuller A, Koutnikova H, Dierich A, LeMeur M, Fischbeck K, Dollé P, Koenig M. Cossée M, et al. Hum Mol Genet. 2000 May 1;9(8):1219-26. doi: 10.1093/hmg/9.8.1219. Hum Mol Genet. 2000. PMID: 10767347

8

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Among authors: cossee m. Neuromuscul Disord. 2004 Oct;14(10):650-8. doi: 10.1016/j.nmd.2004.05.002. Neuromuscul Disord. 2004. PMID: 15351422

9

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H. Hichri H, et al. Among authors: cossee m. Eur J Hum Genet. 2005 May;13(5):607-16. doi: 10.1038/sj.ejhg.5201372. Eur J Hum Genet. 2005. PMID: 15770229

10

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.

Echaniz-Laguna A, Rousso E, Anheim M, Cossée M, Tranchant C. Echaniz-Laguna A, et al. Among authors: cossee m. Neurology. 2005 Apr 26;64(8):1458-60. doi: 10.1212/01.WNL.0000158617.41819.F3. Neurology. 2005. PMID: 15851746

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