Bönnemann CG - Search Results

1

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. Syeda SB, et al. Among authors: bonnemann cg. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041679 Free PMC article.

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

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

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

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.

6

Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG. Foley AR, et al. Among authors: bonnemann cg. Ann Neurol. 2011 Jan;69(1):206-11. doi: 10.1002/ana.22283. Ann Neurol. 2011. PMID: 21280092 Free PMC article.

7

173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands.

Bönnemann CG, Rutkowski A, Mercuri E, Muntoni F; CMD Outcomes Consortium. Bönnemann CG, et al. Neuromuscul Disord. 2011 Jul;21(7):513-22. doi: 10.1016/j.nmd.2011.04.004. Epub 2011 Jun 8. Neuromuscul Disord. 2011. PMID: 21641800 Free PMC article. No abstract available.

8

Spontaneous keloid formation in patients with Bethlem myopathy.

Collins J, Foley AR, Straub V, Bönnemann CG. Collins J, et al. Among authors: bonnemann cg. Neurology. 2012 Nov 20;79(21):2158. doi: 10.1212/WNL.0b013e3182752ebc. Neurology. 2012. PMID: 23170014 Free PMC article.

9

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG. Bharucha-Goebel DX, et al. Among authors: bonnemann cg. Neurology. 2013 Apr 23;80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. Epub 2013 Apr 3. Neurology. 2013. PMID: 23553484 Free PMC article.

10

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.

Donkervoort S, Dastgir J, Hu Y, Zein WM, Marks H, Blackstone C, Bönnemann CG. Donkervoort S, et al. Among authors: bonnemann cg. Clin Genet. 2014 Apr;85(4):393-5. doi: 10.1111/cge.12185. Epub 2013 Jun 10. Clin Genet. 2014. PMID: 23745665 Free PMC article. No abstract available.

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