Publications by authors named "Andrea Degiorgi"

2Publications

Mutation in the MICOS subunit gene (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.

Authors:
Cristiane Benincá Vanessa Zanette Michele Brischigliaro Mark Johnson Aurelio Reyes Daniel Almeida do Valle Alan J Robinson Andrea Degiorgi Anna Yeates Bruno Augusto Telles Julien Prudent Enrico Baruffini Mara Lucia S F Santos Ricardo Lehtonen R de Souza Erika Fernandez-Vizarra Alexander J Whitworth Massimo Zeviani

J Med Genet 2020 05 21. Epub 2020 May 21.

Medical Research Council, Mitochondrial Biology Unit, Cambridge, Cambridgeshire, UK

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May 2020

Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.

Authors:
Nallely Hoyos-Gonzalez Carlos H Trasviña-Arenas Andrea Degiorgi Atzimaba Y Castro-Lara Antolín Peralta-Castro Pedro Jimenez-Sandoval Corina Diaz-Quezada Tiziana Lodi Enrico Baruffini Luis G Brieba

Biochim Biophys Acta Gen Subj 2020 Jul 29;1864(7):129608. Epub 2020 Mar 29.

Laboratorio Nacional de Genómica para la Biodiversidad, Centro de Investigación y de Estudios Avanzados del IPN, Apartado Postal 629, CP 36821 Irapuato, Guanajuato, Mexico. Electronic address:

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July 2020