Bönnemann CG - Search Results

1

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. Among authors: bonnemann cg. Ann Neurol. 2005 Jan;57(1):148-51. doi: 10.1002/ana.20359. Ann Neurol. 2005. PMID: 15622532

2

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

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

3

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG. Dagvadorj A, et al. J Neurol. 2004 Feb;251(2):143-9. doi: 10.1007/s00415-004-0289-3. J Neurol. 2004. PMID: 14991347

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. Among authors: bonnemann cg. 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

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.

Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Lucioli S, et al. Neurology. 2005 Jun 14;64(11):1931-7. doi: 10.1212/01.WNL.0000163990.00057.66. Neurology. 2005. PMID: 15955946

6

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: bonnemann cg. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.

7

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. Quijano-Roy S, et al. Among authors: bonnemann cg. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Ann Neurol. 2008. PMID: 18551513

8

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: bonnemann cg. Muscle Nerve. 2008 Sep;38(3):1184-91. doi: 10.1002/mus.21088. Muscle Nerve. 2008. PMID: 18720506

9

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Among authors: bonnemann cg. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.

10

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: bonnemann cg. Acta Myol. 2008 Oct;27(2):54-8. Acta Myol. 2008. PMID: 19364062 Free PMC article.

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