Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia / Zimoń, M; Baets, J; Almeida-Souza, L; De Vriendt, E; Nikodinovic, J; Parman, Y; Battalo Gcaron Lu, E; Matur, Z; Guergueltcheva, V; Tournev, I; Auer-Grumbach, M; De Rijk, P; Petersen, Bs; Müller, T; Fransen, E; Van Damme, P; Löscher, Wn; Barišić, N; Mitrovic, Z; Previtali, S; Topalo Gcaron Lu, H; Bernert, G; Beleza-Meireles, A; Todorovic, S; Savic-Pavicevic, D; Ishpekova, B; Lechner, S; Peeters, K; Ooms, T; Hahn, Af; Züchner, S; Timmerman, V; Van Dijck, P; Rasic, Vm; Janecke, Ar; De Jonghe, P; Jordanova, A.. - In: NATURE GENETICS. - ISSN 1061-4036. - 44:10(2012), pp. 1080-1083. [10.1038/ng.2406]