Schwartz M - Search Results

1

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

2

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

3

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.

4

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

Duno M, Sveen ML, Schwartz M, Vissing J. Duno M, et al. Among authors: schwartz m. Eur J Hum Genet. 2008 Aug;16(8):935-40. doi: 10.1038/ejhg.2008.47. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337726

5

High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.

Duno M, Quinlivan R, Vissing J, Schwartz M. Duno M, et al. Among authors: schwartz m. Ann Hum Genet. 2009 May;73(Pt 3):292-7. doi: 10.1111/j.1469-1809.2009.00512.x. Ann Hum Genet. 2009. PMID: 19472443

6

Paternal inheritance of mitochondrial DNA.

Schwartz M, Vissing J. Schwartz M, et al. N Engl J Med. 2002 Aug 22;347(8):576-80. doi: 10.1056/NEJMoa020350. N Engl J Med. 2002. PMID: 12192017 Free article. No abstract available.

7

New patterns of inheritance in mitochondrial disease.

Schwartz M, Vissing J. Schwartz M, et al. Biochem Biophys Res Commun. 2003 Oct 17;310(2):247-51. doi: 10.1016/j.bbrc.2003.09.037. Biochem Biophys Res Commun. 2003. PMID: 14521902 Review.

8

No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations.

Schwartz M, Vissing J. Schwartz M, et al. J Neurol Sci. 2004 Mar 15;218(1-2):99-101. doi: 10.1016/j.jns.2003.11.008. J Neurol Sci. 2004. PMID: 14759640

9

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

10

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

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