Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Essential tremor (ET) is a common movement disorder with an estimated prevalence of 5% of the population aged over 65 years. In spite of intensive efforts, the genetic architecture of ET remains unknown. We used a combination of whole-exome sequencing and targeted resequencing in three ET families....

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Veröffentlicht in:Human molecular genetics 2015-10, Vol.24 (20), p.5677-5686
Hauptverfasser: Hor, Hyun, Francescatto, Ludmila, Bartesaghi, Luca, Ortega-Cubero, Sara, Kousi, Maria, Lorenzo-Betancor, Oswaldo, Jiménez-Jiménez, Felix J, Gironell, Alexandre, Clarimón, Jordi, Drechsel, Oliver, Agúndez, José A G, Kenzelmann Broz, Daniela, Chiquet-Ehrismann, Ruth, Lleó, Alberto, Coria, Francisco, García-Martin, Elena, Alonso-Navarro, Hortensia, Martí, Maria J, Kulisevsky, Jaume, Hor, Charlotte N, Ossowski, Stephan, Chrast, Roman, Katsanis, Nicholas, Pastor, Pau, Estivill, Xavier
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Sprache:eng
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