C. Teixeira

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

J. Ferreira, P. Cabral, A. Guimarães, 2006, Molecular genetics and metabolism.

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population

R. Boustany, A. Guimarães, E. Pinto, 2003, Journal of Neurology.

Retrovirus-Mediated Transfer and Expression of β-Hexosaminidase α-Chain cDNA in Human Fibroblasts from GM2-Gangliosidosis B1 Variant

M. Ribeiro, M. Sena-Esteves, Lurdes Lopes, 2001 .

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

A. Guimarães, C. Bessa, L. Lacerda, 2008, Molecular genetics and metabolism.

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.

R. Boustany, C. Ferreira, M. S. Sá Miranda, 2006, Biochimica et biophysica acta.

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

D. Stephan, M. MacDonald, J. Espinola, 2003, Human mutation.