M. Nieto

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant

H. R. Stensland, T. Levade, P. Labauge, 2009, BMC Medical Genetics.

Danon disease: Further clinical and molecular heterogeneity

A. Anastasakis, T. Levade, M. Elleder, 2009, Muscle & nerve.

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

E. Aller, L. Martínez-Dolz, I. Azorín, 2022, Annals of neurology.