Publications by authors named "Diana Antunes"

8Publications

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.

J Neurol 2020 Dec 7;267(12):3578-3592. Epub 2020 Jul 7.

Instituto de Medicina Molecular and Institute of Physiology, Faculdade de Medicina da Universidade de Lisboa, Av. Professor Egas Moniz, 1648-028, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s00415-020-10042-yDOI Listing
December 2020

Overexpression of branched-chain amino acid aminotransferases rescues the growth defects of cells lacking the Barth syndrome-related gene TAZ1.

J Mol Med (Berl) 2019 02 3;97(2):269-279. Epub 2019 Jan 3.

Interfaculty Institute of Biochemistry, University of Tübingen, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00109-018-1728-4DOI Listing
February 2019

Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.

Brain Dev 2017 Jun 13;39(6):539-541. Epub 2017 Feb 13.

Metabolic Unit, Hospital de Dona Estefânia, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.braindev.2017.01.008DOI Listing
June 2017