Schwartz K - Search Results

1

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.

Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G. Kitaguchi T, et al. Among authors: schwartz k. Neuromuscul Disord. 2001 Sep;11(6-7):542-6. doi: 10.1016/s0960-8966(01)00207-3. Neuromuscul Disord. 2001. PMID: 11525883

2

Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis.

Colomer J, Iturriaga C, Bonne G, Schwartz K, Manilal S, Morris GE, Puche M, Fernández-Alvarez E. Colomer J, et al. Among authors: schwartz k. Neuromuscul Disord. 2002 Jan;12(1):19-25. doi: 10.1016/s0960-8966(01)00239-5. Neuromuscul Disord. 2002. PMID: 11731280

3

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

4

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

Ostlund C, Bonne G, Schwartz K, Worman HJ. Ostlund C, et al. Among authors: schwartz k. J Cell Sci. 2001 Dec;114(Pt 24):4435-45. doi: 10.1242/jcs.114.24.4435. J Cell Sci. 2001. PMID: 11792809

5

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

6

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.

7

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.

8

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

9

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F. Mercuri E, et al. Among authors: schwartz k. Neuropediatrics. 2002 Feb;33(1):10-4. doi: 10.1055/s-2002-23593. Neuropediatrics. 2002. PMID: 11930270

10

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.

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