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673 results

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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Varon R, et al. Among authors: lochmuller h. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517542
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.
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
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Hunter M, et al. Among authors: lochmuller h. Hum Mutat. 2003 Aug;22(2):129-35. doi: 10.1002/humu.10240. Hum Mutat. 2003. PMID: 12872253
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C. Grohmann K, et al. Among authors: lochmuller h. Ann Neurol. 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. Ann Neurol. 2003. PMID: 14681881
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
Mutation history of the roma/gypsies.
Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Among authors: lochmuller h. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 Free PMC article.
673 results