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Human Molecular Genetics|October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypesJulian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Human Molecular Genetics|February 4, 2017
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry diseaseJin-Song Shen, Erland Arning, Michael L West, et al.
CNS Neuroscience & Therapeutics|February 15, 2024
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous systemJyoti Asundi, Chunlian Zhang, Diana Donnelly-Roberts, et al.
Molecular Genetics and Metabolism|May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 GangliosidosisPamela Kell, Sonali Mishra, Precilla D'Souza, et al.
Human Mutation|March 19, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen Schäfer, Karin Baron, Urs Widmer, et al.
JAMA Neurology|February 10, 2015
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body diseaseH Orhan Akman, Or Kakhlon, Jorida Coku, et al.
Annals of Neurology|December 19, 2003
Insertion of mutant proteolipid protein results in missorting of myelin proteinsCatherine Vaurs-Barriere, Kondi Wong, Thais D Weibel, et al.
Frontiers in Public Health|April 27, 2026
Vaccination gaps in decentralized emergency response: understanding immunization barriers among volunteer firefighters. A cross-sectional mixed methods studyAndrea Baron, Laura Over-Müller, Swantje Brandt, et al.
Brain : a Journal of Neurology|February 1, 2013
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationMariam B Totonchy, Deborah Tamura, Matthew S Pantell, et al.
Studies in Health Technology and Informatics|September 7, 2011
IT infrastructure components to support clinical care and translational research projects in a comprehensive cancer centerHans-Ulrich Prokosch, Markus Ries, Alexander Beyer, et al.
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