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673 results

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LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. Sáenz A, et al. Among authors: lochmuller h. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
Novel approaches to treat muscular dystrophies.
Walter MC, Lochmüller H. Walter MC, et al. Among authors: lochmuller h. Expert Opin Investig Drugs. 2001 Apr;10(4):695-707. doi: 10.1517/13543784.10.4.695. Expert Opin Investig Drugs. 2001. PMID: 11281819 Review.
Prion codon 129 homozygosity and sporadic inclusion body myositis.
Lampe J, Gossrau G, Reichmann H, Walter MC, Mendel B, Lochmüller H. Lampe J, et al. Among authors: lochmuller h. Neurology. 2001 Jul 24;57(2):368. doi: 10.1212/wnl.57.2.368. Neurology. 2001. PMID: 11468340 No abstract available.
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Merlini L, Gooding R, Lochmüller H, Müller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Merlini L, et al. Among authors: lochmuller h. Neurology. 2002 Jan 22;58(2):231-6. doi: 10.1212/wnl.58.2.231. Neurology. 2002. PMID: 11805249
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. Müller JS, et al. Among authors: lochmuller h. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535
Variable reduction of caveolin-3 in patients with LGMD2B/MM.
Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H. Walter MC, et al. Among authors: lochmuller h. J Neurol. 2003 Dec;250(12):1431-8. doi: 10.1007/s00415-003-0234-x. J Neurol. 2003. PMID: 14673575
Homozygosity for CCTG mutation in myotonic dystrophy type 2.
Schoser BG, Kress W, Walter MC, Halliger-Keller B, Lochmüller H, Ricker K. Schoser BG, et al. Among authors: lochmuller h. Brain. 2004 Aug;127(Pt 8):1868-77. doi: 10.1093/brain/awh210. Epub 2004 Jul 1. Brain. 2004. PMID: 15231584
673 results