scispace - formally typeset
A

Aurora Pujol

Researcher at Catalan Institution for Research and Advanced Studies

Publications -  166
Citations -  13919

Aurora Pujol is an academic researcher from Catalan Institution for Research and Advanced Studies. The author has contributed to research in topics: Adrenoleukodystrophy & Medicine. The author has an hindex of 43, co-authored 142 publications receiving 11003 citations. Previous affiliations of Aurora Pujol include French Institute of Health and Medical Research & Pasteur Institute.

Papers
More filters
Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
Journal ArticleDOI

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang, +172 more
- 23 Oct 2020 - 
TL;DR: The COVID Human Genetic Effort established to test the general hypothesis that life-threatening COVID-19 in some or most patients may be caused by monogenic inborn errors of immunity to SARS-CoV-2 with incomplete or complete penetrance finds an enrichment in variants predicted to be loss-of-function (pLOF), with a minor allele frequency <0.001.
Journal ArticleDOI

ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

TL;DR: A detailed analysis of all 406 X‐ALD mutations currently included in the database is reported, and 47 novel mutations are presented, including 47 novel extensions of the ABCD1 gene.
Journal ArticleDOI

Hyperintense globus pallidus on T1‐weighted MRI in cirrhotic patients is associated with severity of liver failure

TL;DR: It is concluded that the hyperintense globus pallidus is secondary to the severity of the liver disease, and is reversible when liver function returns to normal.