Mortier W - Search Results

1

Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.

Abicht A, Müller-Felber W, Fischer P, Jakob I, Kürz L, Rudel R, Mortier W, Pongratz D, Lochmüller H. Abicht A, et al. Among authors: mortier w. Eur J Med Res. 1997 Dec 31;2(12):515-22. Eur J Med Res. 1997. PMID: 9498929

2

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H. Abicht A, et al. Among authors: mortier w. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268

3

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. Müller JS, et al. Among authors: mortier w. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535

4

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H. Müller JS, et al. Among authors: mortier w. Neuromuscul Disord. 2004 Nov;14(11):744-9. doi: 10.1016/j.nmd.2004.06.010. Neuromuscul Disord. 2004. PMID: 15482960

5

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H. Schmidt C, et al. Among authors: mortier w. Neuromuscul Disord. 2003 Mar;13(3):245-51. doi: 10.1016/s0960-8966(02)00273-0. Neuromuscul Disord. 2003. PMID: 12609506

6

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW. Vorgerd M, et al. Among authors: mortier w. Ann Neurol. 1998 Mar;43(3):326-31. doi: 10.1002/ana.410430310. Ann Neurol. 1998. PMID: 9506549

7

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.

Gross M, Rötzer E, Kölle P, Mortier W, Reichmann H, Goebel HH, Lochmüller H, Pongratz D, Mahnke-Zizelman DK, Sabina RL. Gross M, et al. Among authors: mortier w. Neuromuscul Disord. 2002 Aug;12(6):558-65. doi: 10.1016/s0960-8966(02)00008-1. Neuromuscul Disord. 2002. PMID: 12117480

8

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.

Schara U, Kress W, Tücke J, Mortier W. Schara U, et al. Among authors: mortier w. Neurology. 2003 Apr 22;60(8):1363-5. doi: 10.1212/01.wnl.0000058763.90924.fa. Neurology. 2003. PMID: 12707446

9

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

Arning L, Jagiello P, Schara U, Vorgerd M, Dahmen N, Gencikova A, Mortier W, Epplen JT, Gencik M. Arning L, et al. Among authors: mortier w. J Neurol. 2004 Jan;251(1):72-8. doi: 10.1007/s00415-004-0274-x. J Neurol. 2004. PMID: 14999492

10

[Neuromuscular diseases 2: muscular dystrophies (MD)].

Schara U, Mortier W. Schara U, et al. Among authors: mortier w. Nervenarzt. 2005 Feb;76(2):219-37; quiz 238-9. doi: 10.1007/s00115-004-1847-8. Nervenarzt. 2005. PMID: 16092148 Review. German.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

75 results

Search Page

Filters