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Biochemical Society Symposium|March 27, 2003
MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brainsMark Sutton-Smith, Howard R Morris, Prabhjit K Grewal, et al.Muscle & Nerve|November 26, 2003
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry diseaseRaphael Schiffmann, Mary Kay Floeter, James M Dambrosia, et al.Plos One|June 28, 2012
Developmental splicing deregulation in leukodystrophies related to EIF2B mutationsAurélia Huyghe, Laetitia Horzinski, Alain Hénaut, et al.Nature Genetics|September 5, 2006
Lamin B1 duplications cause autosomal dominant leukodystrophyQuasar S Padiath, Kazumasa Saigoh, Raphael Schiffmann, et al.European Journal of Pediatrics|September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus Ries, Uma Ramaswami, Rossella Parini, et al.American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.Journal of Proteome Research|April 26, 2008
Time series proteome profiling to study endoplasmic reticulum stress responseMichelle Mintz, Adeline Vanderver, Kristy J Brown, et al.Molecular Genetics and Metabolism Reports|December 22, 2021
Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786]Daniel G Bichet, Roser Torra, Eric Wallace, et al.Annals of Neurology|September 27, 2002
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusAnne Fogli, Kondi Wong, Eleonore Eymard-Pierre, et al.Neurology|November 14, 2019
Variation in cognitive function over time in Gaucher disease type 3Alta M Steward, Edythe Wiggs, Taylor Lindstrom, et al.Pageof 27