Schara U - Search Results

1

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: schara u. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535

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: schara u. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268

3

Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.

Schara U, Gencik M, Mortier J, Langen M, Gencikova A, Epplen JT, Mortier W. Schara U, et al. Eur J Pediatr. 2001 Jul;160(7):452-3. doi: 10.1007/s004310100744. Eur J Pediatr. 2001. PMID: 11475588

4

Rippling muscle disease in childhood.

Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W. Schara U, et al. J Child Neurol. 2002 Jul;17(7):483-90. doi: 10.1177/088307380201700703. J Child Neurol. 2002. PMID: 12269726

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: schara u. Neuromuscul Disord. 2003 Mar;13(3):245-51. doi: 10.1016/s0960-8966(02)00273-0. Neuromuscul Disord. 2003. PMID: 12609506

6

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. Neurology. 2003 Apr 22;60(8):1363-5. doi: 10.1212/01.wnl.0000058763.90924.fa. Neurology. 2003. PMID: 12707446

7

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.

Schara U, Tücke J, Mortier W, Nüsslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schröder R. Schara U, et al. Eur J Pediatr. 2004 Apr;163(4-5):218-22. doi: 10.1007/s00431-004-1410-4. Epub 2004 Feb 13. Eur J Pediatr. 2004. PMID: 14963703

8

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: schara u. J Neurol. 2004 Jan;251(1):72-8. doi: 10.1007/s00415-004-0274-x. J Neurol. 2004. PMID: 14999492

9

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: schara u. Neuromuscul Disord. 2004 Nov;14(11):744-9. doi: 10.1016/j.nmd.2004.06.010. Neuromuscul Disord. 2004. PMID: 15482960

10

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

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

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