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Article

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

ASN neuro - 1 Jan 2000

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

Abstract excerpt

*These authors contributed equally to this work.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 approaches were performed in a family with an autosomal dominant form of...

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Source

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Identifiers

PMID: 26297037
DOI: 10.1177/1759091415598290
PMCID: PMC4550298

Genes

SORT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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