Schwartz K - Search Results

1

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: schwartz k. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

2

Emery-Dreifuss muscular dystrophy.

Helbling-Leclerc A, Bonne G, Schwartz K. Helbling-Leclerc A, et al. Among authors: schwartz k. Eur J Hum Genet. 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744. Eur J Hum Genet. 2002. PMID: 11973618 Review.

3

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Bonne G, et al. Among authors: schwartz k. Nat Genet. 1999 Mar;21(3):285-8. doi: 10.1038/6799. Nat Genet. 1999. PMID: 10080180 Clinical Trial.

4

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).

Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F. Mercuri E, et al. Among authors: schwartz k. Neurology. 2000 Apr 25;54(8):1704-5. doi: 10.1212/wnl.54.8.1704. Neurology. 2000. PMID: 10762524 No abstract available.

5

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Muchir A, et al. Among authors: schwartz k. Hum Mol Genet. 2000 May 22;9(9):1453-9. doi: 10.1093/hmg/9.9.1453. Hum Mol Genet. 2000. PMID: 10814726

6

High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.

Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D. Bécane HM, et al. Among authors: schwartz k. Pacing Clin Electrophysiol. 2000 Nov;23(11 Pt 1):1661-6. doi: 10.1046/j.1460-9592.2000.01661.x. Pacing Clin Electrophysiol. 2000. PMID: 11138304

7

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M. van der Kooi AJ, et al. Among authors: schwartz k. Neurology. 2002 Aug 27;59(4):620-3. doi: 10.1212/wnl.59.4.620. Neurology. 2002. PMID: 12196663

8

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G. Muchir A, et al. Among authors: schwartz k. Muscle Nerve. 2004 Oct;30(4):444-50. doi: 10.1002/mus.20122. Muscle Nerve. 2004. PMID: 15372542

9

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.

Bonne G, Capeau J, De Visser M, Duboc D, Merlini L, Morris GE, Muntoni F, Recan D, Sewry C, Squarzoni S, Stewart C, Talim B, van der Kooi A, Worman H, Schwartz K. Bonne G, et al. Among authors: schwartz k. Neuromuscul Disord. 2002 Feb;12(2):187-94. doi: 10.1016/s0960-8966(01)00243-7. Neuromuscul Disord. 2002. PMID: 11738362 No abstract available.

10

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.

Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G. Muchir A, et al. Among authors: schwartz k. Exp Cell Res. 2003 Dec 10;291(2):352-62. doi: 10.1016/j.yexcr.2003.07.002. Exp Cell Res. 2003. PMID: 14644157

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,337 results

Search Page