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Pharmacogenetics and Genomics|August 14, 2008
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperoneSang H Shin, Stefanie Kluepfel-Stahl, Adele M Cooney, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 17, 2009
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapyRaphael Schiffmann, David G Warnock, Maryam Banikazemi, et al.
Annals of Neurology|September 7, 2024
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody DiseaseGiulia Fadda, Brenda Banwell, Colm Elliott, et al.
Neurology|September 20, 2023
The Brain Health Imperative in the 21st Century-A Call to Action: The AAN Brain Health Platform and Position StatementNatalia S Rost, Joel Salinas, Justin T Jordan, et al.
Neurology|November 8, 2014
Onset of multiple sclerosis before adulthood leads to failure of age-expected brain growthBérengère Aubert-Broche, Vladimir Fonov, Sridar Narayanan, et al.
American Journal of Human Genetics|April 23, 2003
Ovarian failure related to eukaryotic initiation factor 2B mutationsAnne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, et al.
Nature Communications|August 15, 2014
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IVCheng-Chang Chen, Marco Keller, Martin Hess, et al.
The Journal of Pediatrics|October 9, 2016
Physical Activity and Its Correlates in Youth with Multiple SclerosisStephanie A Grover, Carolyn P Sawicki, Dominique Kinnett-Hopkins, et al.
Cerebellum (London, England)|January 13, 2015
The role of the cerebellum in multiple sclerosisKatrin Weier, Brenda Banwell, Antonio Cerasa, et al.
Neurology|November 2, 2014
Functional-structural correlations in the afferent visual pathway in pediatric demyelinationE Ann Yeh, Ruth Ann Marrie, Y Arun Reginald, et al.
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