Munnich A - Search Results

1

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. Maystadt I, et al. Among authors: munnich a. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16. Am J Hum Genet. 2007. PMID: 17564964 Free PMC article.

2

Clinical and genetic heterogeneity in retinitis pigmentosa.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. Hum Genet. 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. Hum Genet. 1990. PMID: 2227956

3

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

Gerber S, Rozet JM, Bonneau D, Souied E, Camuzat A, Dufier JL, Amalric P, Weissenbach J, Munnich A, Kaplan J. Gerber S, et al. Among authors: munnich a. Am J Hum Genet. 1995 Feb;56(2):396-9. Am J Hum Genet. 1995. PMID: 7847373 Free PMC article.

4

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.

5

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

6

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

Chaïb H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C. Chaïb H, et al. Among authors: munnich a. Hum Mol Genet. 1997 Jan;6(1):27-31. doi: 10.1093/hmg/6.1.27. Hum Mol Genet. 1997. PMID: 9002666

7

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

8

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.

Lefebvre S, Burlet P, Viollet L, Bertrandy S, Huber C, Belser C, Munnich A. Lefebvre S, et al. Among authors: munnich a. Hum Mol Genet. 2002 May 1;11(9):1017-27. doi: 10.1093/hmg/11.9.1017. Hum Mol Genet. 2002. PMID: 11978761

9

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S. Viollet L, et al. Among authors: munnich a. Ann Neurol. 2002 May;51(5):585-92. doi: 10.1002/ana.10182. Ann Neurol. 2002. PMID: 12112104

10

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Viollet L, et al. Among authors: munnich a. Eur J Hum Genet. 2004 Jun;12(6):483-8. doi: 10.1038/sj.ejhg.5201177. Eur J Hum Genet. 2004. PMID: 15054395

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