SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor

Essential tremor (ET) is the most prevalent movement disorder affecting millions of people in the United States. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. In this study, whole exome sequencing and subsequent approach...

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Detalles Bibliográficos
Autores principales: Sánchez, Elena, Bergareche, Alberto, Krebs, Catharine E., Gorostidi, Ana, Makarov, Vladimir, Ruiz-Martinez, Javier, Chorny, Alejo, Lopez de Munain, Adolfo, Marti-Masso, Jose Felix, Paisán-Ruiz, Coro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550298/
https://www.ncbi.nlm.nih.gov/pubmed/26297037
http://dx.doi.org/10.1177/1759091415598290

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