Macaya, Alfons

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Tuberous Sclerosis registry to increase disease Awareness (TOSCA): baseline data on 2093 patients

on behalf of TOSCA consortium and TOSCA investigators, Kingswood, J. C., d’Augères, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., et al. (2017) · Orphanet Journal of Rare Diseases

Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.

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Secondary Coenzyme Q 10 Deficiencies in Oxidative Phosphorylation (OXPHOS) and Non-OXPHOS Disorders

Yubero, D., Montero, R., Martín, M. A., Montoya, J., Ribes, A., Grazina, M., Trevisson, E., Rodriguez-Aguilera, J. C., Hargreaves, I. P., Salviati, L., et al. (2016) · Mitochondrion

Coenzyme Q10 studies and effectsMitochondrial Function and Pathology

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Rodríguez Cruz, P. M., Cossins, J., de Paula Estephan, E., Munell, F., Selby, K., Hirano, M., Maroofin, R., Mehrjardi, M. Y. V., Chow, G., Carr, A., et al. (2019) · Brain

Myasthenia Gravis and ThymomaMuscle Physiology and Disorders

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