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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
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Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 44: 1080-1083, 2012.
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(2012)
Nat Genet
, vol.44
, pp. 1080-1083
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Zimon, M.1
Baets, J.2
Almeida-Souza, L.3
de Vriendt, E.4
Nikodinovic, J.5
Parman, Y.6
Battaloglu, E.7
Matur, Z.8
Guergueltcheva, V.9
Tournev, I.10
Auer-Grumbach, M.11
de Rijk, P.12
Petersen, B.S.13
Muller, T.14
Fransen, E.15
van Damme, P.16
Loscher, W.N.17
Barisic, N.18
Mitrovic, Z.19
Previtali, S.C.20
Topaloglu, H.21
Bernert, G.22
Beleza-Meireles, A.23
Todorovic, S.24
Savic-Pavicevic, D.25
Ishpekova, B.26
Lechner, S.27
Peeters, K.28
Ooms, T.29
Hahn, A.F.30
Zuchner, S.31
Timmerman, V.32
van Dijck, P.33
Rasic, V.M.34
Janecke, A.R.35
de Jonghe, P.36
Jordanova, A.37
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