Schwartz M - Search Results

1

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.

Lindquist SG, Holm IE, Schwartz M, Law I, Stokholm J, Batbayli M, Waldemar G, Nielsen JE. Lindquist SG, et al. Among authors: schwartz m. Eur J Neurol. 2008 Apr;15(4):377-85. doi: 10.1111/j.1468-1331.2008.02069.x. Epub 2008 Feb 16. Eur J Neurol. 2008. PMID: 18284428

2

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.

Lindquist SG, Nielsen JE, Stokholm J, Schwartz M, Batbayli M, Ballegaard M, Erdal J, Krabbe K, Waldemar G. Lindquist SG, et al. Among authors: schwartz m. J Neurol Sci. 2008 May 15;268(1-2):124-30. doi: 10.1016/j.jns.2007.11.021. Epub 2008 Jan 9. J Neurol Sci. 2008. PMID: 18187157

3

Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.

Lindquist SG, Schwartz M, Batbayli M, Waldemar G, Nielsen JE. Lindquist SG, et al. Among authors: schwartz m. Clin Genet. 2009 Aug;76(2):205-9. doi: 10.1111/j.1399-0004.2009.01191.x. Epub 2009 Jul 29. Clin Genet. 2009. PMID: 19659892

4

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.

Lindquist SG, Hasholt L, Bahl JM, Heegaard NH, Andersen BB, Nørremølle A, Stokholm J, Schwartz M, Batbayli M, Laursen H, Pardossi-Piquard R, Chen F, St George-Hyslop P, Waldemar G, Nielsen JE. Lindquist SG, et al. Among authors: schwartz m. Eur J Neurol. 2008 Oct;15(10):1135-9. doi: 10.1111/j.1468-1331.2008.02256.x. Epub 2008 Aug 22. Eur J Neurol. 2008. PMID: 18727676

5

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

Ostergaard E, Schwartz M, Batbayli M, Christensen E, Hjalmarson O, Kollberg G, Holme E. Ostergaard E, et al. Among authors: schwartz m. Eur J Pediatr. 2010 Feb;169(2):201-5. doi: 10.1007/s00431-009-1007-z. Epub 2009 Jun 14. Eur J Pediatr. 2010. PMID: 19526370

6

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.

Bisgaard AM, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, Schwartz M, Christensen E. Bisgaard AM, et al. Among authors: schwartz m. Clin Genet. 2009 Feb;75(2):175-9. doi: 10.1111/j.1399-0004.2008.01113.x. Epub 2008 Nov 21. Clin Genet. 2009. PMID: 19054018

7

Muscle structural changes in mitochondrial myopathy relate to genotype.

Olsen DB, Langkilde AR, Ørngreen MC, Rostrup E, Schwartz M, Vissing J. Olsen DB, et al. Among authors: schwartz m. J Neurol. 2003 Nov;250(11):1328-34. doi: 10.1007/s00415-003-0206-1. J Neurol. 2003. PMID: 14648149

8

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Schwartz M, Hertz JM, Sveen ML, Vissing J. Schwartz M, et al. Neurology. 2005 May 10;64(9):1635-7. doi: 10.1212/01.WNL.0000157654.59374.E5. Neurology. 2005. PMID: 15883334

9

Short- and long-term effects of endurance training in patients with mitochondrial myopathy.

Jeppesen TD, Dunø M, Schwartz M, Krag T, Rafiq J, Wibrand F, Vissing J. Jeppesen TD, et al. Among authors: schwartz m. Eur J Neurol. 2009 Dec;16(12):1336-9. doi: 10.1111/j.1468-1331.2009.02660.x. Epub 2009 May 27. Eur J Neurol. 2009. PMID: 19486129 Clinical Trial.

10

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

Sveen ML, Schwartz M, Vissing J. Sveen ML, et al. Among authors: schwartz m. Ann Neurol. 2006 May;59(5):808-15. doi: 10.1002/ana.20824. Ann Neurol. 2006. PMID: 16634037

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