Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: DISTAL MYOPATHY, . Treffer: 2
2017
Evilä, A; Palmio, J; Vihola, A; Savarese, M; Tasca, G; Penttilä, S; Lehtinen, S; Jonson, PH; De Bleecker, J; Rainer, P; Auer-Grumbach, M; Pouget, J; Salort-Campana, E; Vilchez, JJ; Muelas, N; Olive, M; Hackman, P; Udd, B
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Mol Neurobiol. 2017; 54(9):7212-7223
Doi: 10.1007/s12035-016-0242-3
[OPEN ACCESS]
Web of Science
PubMed
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2012
Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet. 2012; 90(5):856-863
Doi: 10.1016/j.ajhg.2012.03.023
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG