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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: merlini l. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.
Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechschmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolova A, Colomer J, Ishpekova B, Tournev I, Urtizberea JA, Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M, Nedkova V, Corches A, Kalaydjieva L. Chandler D, et al. Among authors: merlini l. Neuromuscul Disord. 2000 Dec;10(8):584-91. doi: 10.1016/s0960-8966(00)00148-6. Neuromuscul Disord. 2000. PMID: 11053686
GNE protein expression and subcellular distribution are unaltered in HIBM.
Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmüller H. Krause S, et al. Among authors: merlini l. Neurology. 2007 Aug 14;69(7):655-9. doi: 10.1212/01.wnl.0000267426.97138.fd. Neurology. 2007. PMID: 17698786
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: merlini l. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
488 results