Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature
Allison, T., Roncero, I., Forsyth, R., Coffman, K., & Pichon, J. B. L., Journal of Child Neurology, 1/1/2017A Hypothesis for Using Pathway Genetic Load Analysis for Understanding Complex Outcomes in Bilirubin Encephalopathy
Sean M. Riordan, Douglas C. Bittel, Jean-Baptiste Le Pichon, Silvia Gazzin, Claudio Tiribelli, Jon F. Watchko, Richard P.Wennberg, and Steven M. Shapiro, Frontiers in Neuroscience, 1/1/2016Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Piz..., American Journal of Human Genetics, 1/1/2016
