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Journal of the American Academy of Dermatology|February 5, 2005
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophyChristine Liang, Kenneth H Kraemer, Andrea Morris, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|April 23, 2013
Treatment optimization in MS: Canadian MS Working Group updated recommendationsMark S Freedman, Daniel Selchen, Douglas L Arnold, et al.
Mitochondrion|July 12, 2021
Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathyErfan Heidari, Maryam Rasoulinezhad, Neda Pak, et al.
Annals of Clinical and Translational Neurology|September 28, 2019
Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunitXin-Ming Shen, Margherita Milone, Hang-Long Wang, et al.
Annals of Neurology|October 13, 2007
Abnormal T-cell reactivities in childhood inflammatory demyelinating disease and type 1 diabetesBrenda Banwell, Amit Bar-Or, Roy Cheung, et al.
Molecular Genetics and Metabolism|November 13, 2020
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective reviewChelsie N Poffenberger, Sara Inati, Nahid Tayebi, et al.
Clinical Chemistry|September 13, 2005
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter diseaseAdeline Vanderver, Raphael Schiffmann, Margaret Timmons, et al.
Journal of Lipid Research|September 2, 2020
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse modelSiamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S Day, et al.
Drug Design, Development and Therapy|June 17, 2016
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapyOzlem Goker-Alpan, Nicola Longo, Marie McDonald, et al.
Biochimica Et Biophysica Acta|July 20, 2010
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseasesFanny Mochel, Nadège Boildieu, Julie Barritault, et al.
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