Barbier, Mathieu

X-linked adrenoleukodystrophy in women: A cross-sectional cohort study

Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., et al. (2014) · Brain

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 234

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

Huin, V., Barbier, M., Bottani, A., Lobrinus, J. A., Clot, F., Lamari, F., Chat, L., Rucheton, B., Fluchère, F., Auvin, S., et al. (2020) · Brain

Lysosomal Storage Disorders ResearchAmyotrophic Lateral Sclerosis Research

Cited by 96

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

van Engen, C. E., Ofman, R., Dijkstra, I. M. E., van Goethem, T. J., Verheij, E., Varin, J., Vidaud, M., Wanders, R. J. A., Aubourg, P., Kemp, S., et al. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 26

CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy

Barbier, M., Sabbagh, A., Kasper, E., Asheuer, M., Ahouansou, O., Pribill, I., Forss-Petter, S., Vidaud, M., Berger, J., & Aubourg, P. (2012) · PLoS ONE

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 18