Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick Type C disease patients

Authors: Rodriguez-Pascau, L., Toma, C., Macias-Vidal, J., Cozar, M., Cormand, B., Lykopoulou, L., Coll, M. J., Grinberg, D., Vilageliu, L.

Source: MOLECULAR GENETICS AND METABOLISM. 107(4):716-720

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN322367932&indx=1&recIds=ETOCRN322367932

GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients

Authors: The, S. G., Gort, L., de Olano, N., Macias-Vidal, J., Coll, M. a.

Source: GENE -AMSTERDAM-. 506(1):25-30

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN316266150&indx=1&recIds=ETOCRN316266150

Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal hacia un deterioro neurológico. Variabilidad fenotípica

Alternate Title: Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes (English)

Authors: Quijada Fraile, P., Martín Hernández, E., Martínez de Aragón, A., Macias-Vidal, J., Coll, M.J., Nogales Espert, A., García Silva, M.T.

Source: In Anales de Pediatria 2010 73(5):257-263

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Authors: Pineda, M., Perez-Poyato, M.S., O’Callaghan, M., Vilaseca, M.A., Pocovi, M., Domingo, R., Ruiz Portal, L., Verdú Pérez, A., Temudo, T., Gaspar, A., Garcia Peñas, J.J., Roldán, S., Martín Fumero, L., Blanco de la Barca, O., García Silva, M.T., Macías-Vidal, J., Coll, M.J.

Source: In Molecular Genetics and Metabolism 2010 99(4):358-366

Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes

Authors: Fraile, P.Q., Hernandez, E.M., de Aragon, A.M., Macias-Vidal, J., Coll, M.J., Espert, A.N., Silva, M.T.G.

Source: ANALES DE PEDIATRIA. 73(5):257-263

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Analysis of the CTNS gene in 32 cystinosis patients from Spain

Authors: Macias-Vidal, J., Rodes, M., Hernandez-Perez, J., Vilaseca, M., Coll, M.

Source: CLINICAL GENETICS. 76(5):486-489

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Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

Authors: Macias-Vidal, J., Gort, L., Lluch, M., Pineda, M., Coll, M. J.

Source: MOLECULAR GENETICS AND METABOLISM. 97(1):60-64

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN248442837&indx=1&recIds=ETOCRN248442837

The first large deletion described in Niemann-Pick type C disease
Society for the Study of Inborn Errors of Metabolism

Authors: Macias-Vidal, J., Rodriguez-Pascau, L., Lluch, M., Dalmau, J., Vilageliu, L., Grinberg, D., Coll, M.J.

Source: JOURNAL OF INHERITED METABOLIC DISEASE. 33(SUPP/1):393-P

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN077088645&indx=1&recIds=ETOCCN077088645

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Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal hacia un deterioro neurológico. Variabilidad fenotípica. (Spanish)

Alternate Title: Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes. (English)

Authors: Fraile, P. Quijada, Hernández, E. Martín, de Aragón, A. Martínez, Macias-Vidal, J., Coll, M. J., Espert, A. Nogales, García Silva, M. T.

Source: Anales de Pediatría; nov2010, Vol. 73 Issue 5, p257-263, 7p, 2 Black and White Photographs, 2 Charts