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Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.
Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H. Evangelista T, et al. Among authors: lochmuller h. J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9. J Neurol. 2016. PMID: 27159994 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.
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC. Reilich P, et al. Among authors: lochmuller h. J Neurol. 2010 Jul;257(7):1108-18. doi: 10.1007/s00415-010-5471-1. Epub 2010 Feb 10. J Neurol. 2010. PMID: 20146070
Neuromuscular disorders and 2010: recent advances.
Sarkozy A, Lochmüller H. Sarkozy A, et al. Among authors: lochmuller h. J Neurol. 2010 Dec;257(12):2117-21. doi: 10.1007/s00415-010-5745-7. Epub 2010 Sep 18. J Neurol. 2010. PMID: 20852879
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. Hicks D, et al. Among authors: lochmuller h. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294. Brain. 2011. PMID: 21186264 Free PMC article.
673 results