Publications in collaboration with researchers from University of Cambridge (12)

2023

  1. Multi-omic approach characterises the neuroprotective role of retromer in regulating lysosomal health

    Nature Communications, Vol. 14, Núm. 1

2019

  1. The lysosomal disease caused by mutant VPS33A

    Human Molecular Genetics, Vol. 28, Núm. 15, pp. 2514-2530

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

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

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544

2010

  1. EuroPhenome: A repository for high-throughput mouse phenotyping data

    Nucleic Acids Research, Vol. 38, pp. D577-D585

2008

  1. Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

    Autophagy, Vol. 4, Núm. 2, pp. 151-175

1999

  1. Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): A new gene cluster on Xp22

    Genomics, Vol. 58, Núm. 1, pp. 65-72

1998

  1. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

    Human Molecular Genetics, Vol. 7, Núm. 7, pp. 1185-1192

  2. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

    Genomics, Vol. 51, Núm. 3, pp. 427-433

1989

  1. Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq

    Annals of Human Genetics, Vol. 53, Núm. 1, pp. 9-14

  2. Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

    Genomics, Vol. 4, Núm. 1, pp. 36-40