Munnich A - Search Results

1

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al. Bussaglia E, et al. Among authors: munnich a. Nat Genet. 1995 Nov;11(3):335-7. doi: 10.1038/ng1195-335. Nat Genet. 1995. PMID: 7581461

2

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J. Bürglen L, et al. Among authors: munnich a. J Clin Invest. 1996 Sep 1;98(5):1130-2. doi: 10.1172/JCI118895. J Clin Invest. 1996. PMID: 8787675 Free PMC article.

3

Structure and organization of the human survival motor neurone (SMN) gene.

Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Bürglen L, et al. Among authors: munnich a. Genomics. 1996 Mar 15;32(3):479-82. doi: 10.1006/geno.1996.0147. Genomics. 1996. PMID: 8838816

4

Correlation between severity and SMN protein level in spinal muscular atrophy.

Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J. Lefebvre S, et al. Among authors: munnich a. Nat Genet. 1997 Jul;16(3):265-9. doi: 10.1038/ng0797-265. Nat Genet. 1997. PMID: 9207792

5

The role of the SMN gene in proximal spinal muscular atrophy.

Lefebvre S, Bürglen L, Frézal J, Munnich A, Melki J. Lefebvre S, et al. Among authors: munnich a. Hum Mol Genet. 1998;7(10):1531-6. doi: 10.1093/hmg/7.10.1531. Hum Mol Genet. 1998. PMID: 9735373 Review.

6

SMN gene deletions in adult-onset spinal muscular atrophy.

Clermont O, Burlet P, Lefebvre S, Bürglen L, Munnich A, Melki J. Clermont O, et al. Among authors: munnich a. Lancet. 1995 Dec 23-30;346(8991-8992):1712-3. doi: 10.1016/s0140-6736(95)92881-2. Lancet. 1995. PMID: 8551862 No abstract available.

7

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J. Burlet P, et al. Among authors: munnich a. J Med Genet. 1996 Apr;33(4):281-3. doi: 10.1136/jmg.33.4.281. J Med Genet. 1996. PMID: 8730281 Free PMC article.

8

De novo deletions in spinal muscular atrophy: implications for genetic counselling.

Raclin V, Veber PS, Bürglen L, Munnich A, Melki J. Raclin V, et al. Among authors: munnich a. J Med Genet. 1997 Jan;34(1):86-7. doi: 10.1136/jmg.34.1.86. J Med Genet. 1997. PMID: 9032657 Free PMC article. No abstract available.

9

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

Viollet L, Bertrandy S, Bueno Brunialti AL, Lefebvre S, Burlet P, Clermont O, Cruaud C, Guénet JL, Munnich A, Melki J. Viollet L, et al. Among authors: munnich a. Genomics. 1997 Feb 15;40(1):185-8. doi: 10.1006/geno.1996.4551. Genomics. 1997. PMID: 9070939

10

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Hanash A, Leguern E, Birouk N, Clermont O, Pouget J, Bouche P, Munnich A, Brice A, Melki J. Hanash A, et al. Among authors: munnich a. J Med Genet. 1997 Jun;34(6):507-8. doi: 10.1136/jmg.34.6.507. J Med Genet. 1997. PMID: 9192274 Free PMC article.

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