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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
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. 2012; 44(10): 1080-1083.
Doi: 10.1038/ng.2406
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- Co-authors Med Uni Graz
- Auer-Grumbach Michaela
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- Abstract:
- Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
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