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Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project; Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group. Bello L, et al. Among authors: lochmuller h. Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745838 Free PMC article.
[MD-NET--muscular dystrophy network].
Lochmüller H, Straub V. Lochmüller H, et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007 Dec;50(12):1518-23. doi: 10.1007/s00103-007-0386-4. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007. PMID: 18026885 Review. German.
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S. Windpassinger C, et al. Among authors: lochmuller h. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004. Am J Hum Genet. 2008. PMID: 18179888 Free PMC article.
A refined diagnostic algorithm for Bethlem myopathy.
Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. Hicks D, et al. Among authors: lochmuller h. Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d. Neurology. 2008. PMID: 18378883 Clinical Trial.
Limb-girdle muscular dystrophies.
Guglieri M, Straub V, Bushby K, Lochmüller H. Guglieri M, et al. Among authors: lochmuller h. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Curr Opin Neurol. 2008. PMID: 18769252 Review.
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K. Klinge L, et al. Among authors: lochmuller h. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038. Epub 2009 Jun 14. J Neurol Neurosurg Psychiatry. 2010. PMID: 19528035 Free PMC article.
693 results