Kirschner J - Search Results

1

Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

Schessl J, Goemans NM, Magold AI, Zou Y, Hu Y, Kirschner J, Sciot R, Bönnemann CG. Schessl J, et al. Among authors: kirschner j. Muscle Nerve. 2008 Sep;38(3):1184-91. doi: 10.1002/mus.21088. Muscle Nerve. 2008. PMID: 18720506

2

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.

Kirschner J, Bönnemann CG. Kirschner J, et al. Arch Neurol. 2004 Feb;61(2):189-99. doi: 10.1001/archneur.61.2.189. Arch Neurol. 2004. PMID: 14967765 Review.

3

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bönnemann CG, Korinthenberg R. Kirschner J, et al. Ann Neurol. 2005 Jan;57(1):148-51. doi: 10.1002/ana.20359. Ann Neurol. 2005. PMID: 15622532

4

Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bönnemann CG. Kirschner J, et al. Am J Med Genet A. 2005 Jan 30;132A(3):296-301. doi: 10.1002/ajmg.a.30443. Am J Med Genet A. 2005. PMID: 15690374

5

Intravenously administered immunoglobulin in the treatment of childhood Guillain-Barré syndrome: a randomized trial.

Korinthenberg R, Schessl J, Kirschner J, Mönting JS. Korinthenberg R, et al. Among authors: kirschner j. Pediatrics. 2005 Jul;116(1):8-14. doi: 10.1542/peds.2004-1324. Pediatrics. 2005. PMID: 15995024 Clinical Trial.

6

Clinical presentation and course of childhood Guillain-Barré syndrome: a prospective multicentre study.

Korinthenberg R, Schessl J, Kirschner J. Korinthenberg R, et al. Among authors: kirschner j. Neuropediatrics. 2007 Feb;38(1):10-7. doi: 10.1055/s-2007-981686. Neuropediatrics. 2007. PMID: 17607598

7

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Schessl J, et al. Among authors: kirschner j. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.

8

Phenotypic variability in siblings with calpainopathy (LGMD2A).

Schessl J, Walter MC, Schreiber G, Schara U, Müller CR, Lochmüller H, Bönnemann CG, Korinthenberg R, Kirschner J. Schessl J, et al. Among authors: kirschner j. Acta Myol. 2008 Oct;27(2):54-8. Acta Myol. 2008. PMID: 19364062 Free PMC article.

9

169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.

Goebel HH, Bönnemann CG; Rare Structural Myopathy Consortium. Goebel HH, et al. Neuromuscul Disord. 2011 May;21(5):363-74. doi: 10.1016/j.nmd.2011.02.009. Epub 2011 Mar 29. Neuromuscul Disord. 2011. PMID: 21414784 Free PMC article. No abstract available.

10

Diagnostic approach to the congenital muscular dystrophies.

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Bönnemann CG, et al. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 Free PMC article.

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