Výsledky vyhledávání - "Alicia, Ruiz González"

TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism

Autor: Estrella, Gómez-Tortosa, Yalda, Baradaran-Heravi, Lubina, Dillen, Nila Roy, Choudhury, Pablo, Agüero Rabes, Julián, Pérez-Pérez, Cemile, Kocoglu, M José, Sainz, Alicia, Ruiz González, Raquel, Téllez, Lucía, Cremades-Jimeno, Blanca, Cárdaba, Christine, Van Broeckhoven, Gracjan, Michlewski, Julie, van der Zee

Publikováno v: Alzheimer'sdementia : the journal of the Alzheimer's AssociationREFERENCES.

Patients with familial early-onset dementia (EOD) pose a unique opportunity for gene identification studies.We present the phenotype and whole-exome sequencing (WES) study of an autosomal dominant EOD family. Candidate genes were examined in a set of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3df946ac2abcca2ca96a63e595754d24
https://pubmed.ncbi.nlm.nih.gov/36576960

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