scispace - formally typeset
G

Giuseppe Merla

Researcher at Casa Sollievo della Sofferenza

Publications -  135
Citations -  13568

Giuseppe Merla is an academic researcher from Casa Sollievo della Sofferenza. The author has contributed to research in topics: Gene & Kabuki syndrome. The author has an hindex of 41, co-authored 121 publications receiving 10838 citations.

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

The tripartite motif family identifies cell compartments.

TL;DR: The results demonstrate that TRIM proteins share a common function: by means of homo‐multimerization they identify specific cell compartments.
Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Daniel J. Klionsky, +2983 more
- 08 Feb 2021 - 
TL;DR: In this article, the authors present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes.
Journal ArticleDOI

Genetic mechanisms of critical illness in Covid-19.

Erola Pairo-Castineira, +1449 more
- 04 Mar 2021 - 
TL;DR: The GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2244 critically ill Covid-19 patients from 208 UK intensive care units is reported, finding evidence in support of a causal link from low expression of IFNAR2, and high expression of TYK2, to life-threatening disease.
Journal ArticleDOI

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, +182 more
- 06 Oct 2011 - 
TL;DR: In this article, the reciprocal duplication is associated with being clinically underweight, which is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa.