Schwartz M - Search Results

1

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.

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

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

4

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.

5

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

6

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.

7

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

Vissing J, Duno M, Schwartz M, Haller RG. Vissing J, et al. Among authors: schwartz m. Brain. 2009 Jun;132(Pt 6):1545-52. doi: 10.1093/brain/awp065. Epub 2009 May 11. Brain. 2009. PMID: 19433441

8

Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations.

Wibrand F, Jeppesen TD, Frederiksen AL, Olsen DB, Duno M, Schwartz M, Vissing J. Wibrand F, et al. Among authors: schwartz m. Muscle Nerve. 2010 May;41(5):607-13. doi: 10.1002/mus.21541. Muscle Nerve. 2010. PMID: 19941338

9

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.

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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