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Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X. Hor H, et al. Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188006 Free PMC article.
Update on genetics of essential tremor.
Jiménez-Jiménez FJ, Alonso-Navarro H, García-Martín E, Lorenzo-Betancor O, Pastor P, Agúndez JA. Jiménez-Jiménez FJ, et al. Acta Neurol Scand. 2013 Dec;128(6):359-71. doi: 10.1111/ane.12148. Epub 2013 May 18. Acta Neurol Scand. 2013. PMID: 23682623 Review.
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.
Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Alonso E, Coria F, Pastor MA, Fernández-Santiago R, Martí MJ, Ezquerra M, Valldeoriola F, Compta Y, Tolosa E, Agundez JA, Jiménez-Jiménez FJ, Gironell A, Clarimon J, de Castro P, García-Martín E, Alonso-Navarro H, Pastor P. Ortega-Cubero S, et al. Neurobiol Aging. 2013 Oct;34(10):2441.e9-2441.e11. doi: 10.1016/j.neurobiolaging.2013.04.024. Epub 2013 May 31. Neurobiol Aging. 2013. PMID: 23731953
LINGO1 gene analysis in Parkinson's disease phenotypes.
Lorenzo-Betancor O, Samaranch L, García-Martín E, Cervantes S, Agúndez JA, Jiménez-Jiménez FJ, Alonso-Navarro H, Luengo A, Coria F, Lorenzo E, Irigoyen J, Pastor P; Iberian Parkinson's Disease Genetics Study Group Researchers. Lorenzo-Betancor O, et al. Mov Disord. 2011 Mar;26(4):722-7. doi: 10.1002/mds.23452. Epub 2011 Jan 4. Mov Disord. 2011. PMID: 21506150
H1-MAPT and the risk for familial essential tremor.
García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, López-Alburquerque T, Samaranch L, Lorenzo E, Agúndez JA, Jiménez-Jiménez FJ. García-Martín E, et al. PLoS One. 2012;7(7):e41581. doi: 10.1371/journal.pone.0041581. Epub 2012 Jul 23. PLoS One. 2012. PMID: 22911817 Free PMC article.
58 results