Lochmüller H - Search Results

1

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmüller H, Evangelista T. Moreira S, et al. Among authors: lochmuller h. J Neurol. 2017 Jun;264(6):1271-1280. doi: 10.1007/s00415-017-8525-9. Epub 2017 May 26. J Neurol. 2017. PMID: 28550484 Free PMC article.

2

[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.

3

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.

Norwood F, de Visser M, Eymard B, Lochmüller H, Bushby K; EFNS Guideline Task Force. Norwood F, et al. Among authors: lochmuller h. Eur J Neurol. 2007 Dec;14(12):1305-12. doi: 10.1111/j.1468-1331.2007.01979.x. Eur J Neurol. 2007. PMID: 18028188 Review.

4

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.

5

Late onset in dysferlinopathy widens the clinical spectrum.

Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K. Klinge L, et al. Among authors: lochmuller h. Neuromuscul Disord. 2008 Apr;18(4):288-90. doi: 10.1016/j.nmd.2008.01.004. Neuromuscul Disord. 2008. PMID: 18396043

6

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V. Thornhill P, et al. Among authors: lochmuller h. Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078. Epub 2008 May 13. Brain. 2008. PMID: 18477595

7

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.

8

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM. Hicks D, et al. Among authors: lochmuller h. Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289. Epub 2008 Nov 16. Brain. 2009. PMID: 19015158

9

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.

Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, Bushby K. Chiu YH, et al. Among authors: lochmuller h. Hum Mol Genet. 2009 Jun 1;18(11):1976-89. doi: 10.1093/hmg/ddp121. Epub 2009 Mar 13. Hum Mol Genet. 2009. PMID: 19286669 Free PMC article.

10

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.

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