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Page 1
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY. Pang J, et al. Among authors: agundez ja. Am J Hum Genet. 2010 Jun 11;86(6):957-62. doi: 10.1016/j.ajhg.2010.04.016. Am J Hum Genet. 2010. PMID: 20560209 Free PMC article.
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. Among authors: agundez ja. 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.
The potential of LINGO-1 as a therapeutic target for essential tremor.
Agúndez JA, Jiménez-Jimenez FJ, Alonso-Navarro H, García-Martín E. Agúndez JA, et al. Expert Opin Ther Targets. 2015;19(8):1139-48. doi: 10.1517/14728222.2015.1028360. Epub 2015 Apr 10. Expert Opin Ther Targets. 2015. PMID: 25862159 Review.
Exome-wide rare variant analysis in familial essential tremor.
Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics (UWCMG); Aguilar M, Tartari JP, Gironell A, García-Martín E, Agundez JA, Alonso-Navarro H, Jimenez-Jimenez FJ, Fernandez M, Valldeoriola F, Marti MJ, Tolosa E, Coria F, Pastor MA, Vilariño-Güell C, Rajput A, Dion PA, Cruchaga C, Rouleau GA, Pastor P. Diez-Fairen M, et al. Among authors: agundez ja. Parkinsonism Relat Disord. 2021 Jan;82:109-116. doi: 10.1016/j.parkreldis.2020.11.021. Epub 2020 Nov 24. Parkinsonism Relat Disord. 2021. PMID: 33279834 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. Among authors: agundez ja. 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.
The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor.
Ledesma MC, García-Martín E, Alonso-Navarro H, Martínez C, Jiménez-Jiménez FJ, Benito-León J, Puertas I, Rubio L, López-Alburquerque T, Agúndez JA. Ledesma MC, et al. Among authors: agundez ja. Neuromolecular Med. 2008;10(4):356-61. doi: 10.1007/s12017-008-8040-3. Epub 2008 Jun 10. Neuromolecular Med. 2008. PMID: 18543121
298 results