Concepedia

Andrea Balreira

AB

Statistics

Publications

8

Citations

366

H-Index

8

Active since

2005

Affiliations

Universidade do Porto(Current)

Columbia University Irving Medical Center

University College London

Andrea Balreira is an author at Universidade do Porto specializing in life sciences, genetics, and molecular biology.

Publications per year

2005–2015

8

Publications

8

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

Andrea Balreira, Paulo Gaspar, Daniel Caiola et al. · Human Molecular Genetics · 2008 · 110 citations · Full text

, , +15

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Andrea Balreira, Veronika Boczonadi, Emanuele Barca et al. · Journal of Neurology · 2014 · 83 citations · Full text

, , +17

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

Andrea Balreira, Lúcia Lacerda, Clara Sá-Miranda et al. · British Journal of Haematology · 2005 · 58 citations · Full text

, , +17

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

João Chaves, Idalina Beirão, Andrea Balreira et al. · Seizure · 2011 · 33 citations · Full text

, , +7

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

Paulo Gaspar, Wouter W. Kallemeijn, Anneke Strijland et al. · Journal of Lipid Research · 2013 · 29 citations · Full text

, , +17

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