A. Balreira

发表

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

M. Schwake, M. van Eijk, Friederike Zunke, 2014, Journal of Lipid Research.

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Robert W. Taylor, P. Chinnery, Hanns Lochmüller, 2014, Journal of Neurology.

ANO 10 mutations cause ataxia and coenzyme Q 10 deficiency

Robert W. Taylor, P. Chinnery, H. Lochmüller, 2014 .

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC‐class II: monocytes from Gaucher disease patients as a model

Fernando A. Arosa, L. Lacerda, C. Miranda, 2005, British journal of haematology.

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

Jorge E Azevedo, J. Chaves, I. Beirão, 2008, Human molecular genetics.

Anomalies in conventional T and invariant natural killer T‐cell populations in Fabry mice but not in Fabry patients

J. Oliveira, M. S. Sá Miranda, Fernando A. Arosa, 2008, British journal of haematology.

Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness.

M. S. Sá Miranda, Fernando A. Arosa, M. Cavallari, 2010, Immunobiology.

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

J. Chaves, M. C. Sá-Miranda, I. Beirão, 2011, Seizure.

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

M. L. Cardoso, E. Martins, M. Barbosa, 2014, Clinical genetics.

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

F. Santorelli, M. L. Cardoso, E. Martins, 2005, Molecular genetics and metabolism.

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

B. Castellotti, C. Mariotti, E. Barca, 2015, Human molecular genetics.