Schwartz M - Search Results

1

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

Schwartz M, Dunø M. Schwartz M, et al. Genet Test. 2004 Winter;8(4):361-7. doi: 10.1089/gte.2004.8.361. Genet Test. 2004. PMID: 15684864 Clinical Trial.

2

Deletion of exon 16 of the dystrophin gene is not associated with disease.

Schwartz M, Dunø M, Palle AL, Krag T, Vissing J. Schwartz M, et al. Hum Mutat. 2007 Feb;28(2):205. doi: 10.1002/humu.9477. Hum Mutat. 2007. PMID: 17226814

3

Decrement of compound muscle action potential is related to mutation type in myotonia congenita.

Colding-Jørgensen E, DunØ M, Schwartz M, Vissing J. Colding-Jørgensen E, et al. Among authors: schwartz m. Muscle Nerve. 2003 Apr;27(4):449-55. doi: 10.1002/mus.10347. Muscle Nerve. 2003. PMID: 12661046

4

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

Grunnet M, Jespersen T, Colding-Jørgensen E, Schwartz M, Klaerke DA, Vissing J, Olesen SP, Dunø M. Grunnet M, et al. Among authors: schwartz m. Muscle Nerve. 2003 Dec;28(6):722-32. doi: 10.1002/mus.10501. Muscle Nerve. 2003. PMID: 14639587 Clinical Trial.

5

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

Dunø M, Colding-Jørgensen E, Grunnet M, Jespersen T, Vissing J, Schwartz M. Dunø M, et al. Among authors: schwartz m. Eur J Hum Genet. 2004 Sep;12(9):738-43. doi: 10.1038/sj.ejhg.5201218. Eur J Hum Genet. 2004. PMID: 15162127

6

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Dunø M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. Dunø M, et al. Among authors: schwartz m. Hum Genet. 2004 Nov;115(6):459-67. doi: 10.1007/s00439-004-1174-y. Epub 2004 Sep 18. Hum Genet. 2004. PMID: 15378350

7

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

Ørngreen MC, Dunø M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, Vissing J. Ørngreen MC, et al. Among authors: schwartz m. Ann Neurol. 2005 Jan;57(1):60-6. doi: 10.1002/ana.20320. Ann Neurol. 2005. PMID: 15622536

8

dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.

Melchior L, Schwartz M, Duno M. Melchior L, et al. Among authors: schwartz m. Ann Hum Genet. 2005 Mar;69(Pt 2):222-6. doi: 10.1046/j.1529-8817.2004.00150.x. Ann Hum Genet. 2005. PMID: 15720303

9

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.

Jeppesen TD, Schwartz M, Olsen DB, Wibrand F, Krag T, Dunø M, Hauerslev S, Vissing J. Jeppesen TD, et al. Among authors: schwartz m. Brain. 2006 Dec;129(Pt 12):3402-12. doi: 10.1093/brain/awl149. Epub 2006 Jun 30. Brain. 2006. PMID: 16815877

10

Do carriers of PYGM mutations have symptoms of McArdle disease?

Andersen ST, Dunø M, Schwartz M, Vissing J. Andersen ST, et al. Among authors: schwartz m. Neurology. 2006 Aug 22;67(4):716-8. doi: 10.1212/01.wnl.0000230154.79933.d7. Neurology. 2006. PMID: 16924035 Clinical Trial.

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