Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Authors: Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.

Source: In The American Journal of Human Genetics 2 April 2020 106(4):484-495

Ischemic Spinal Cord Infarction in Children Without Vertebral Fracture

Authors: Nance, Jessica R., Golomb, Meredith R.

Source: In Pediatric Neurology 2007 36(4):209-216

Clinical Subpopulations in a Sample of North American Children Diagnosed With Acute Flaccid Myelitis, 2012-2016.

Authors: Elrick, Matthew J., Gordon-Lipkin, Eliza, Crawford, Thomas O., Van Haren, Keith, Messacar, Kevin, Thornton, Nicole, Dee, Elizabeth, Voskertchian, Annie, Nance, Jessica R., Muñoz, Laura S., Gorman, Mark P., Benson, Leslie A., Thomas, David L., Pardo, Carlos A., Milstone, Aaron M., Duggal, Priya

Source: JAMA Pediatrics; Feb2019, Vol. 173 Issue 2, p134-139, 6p

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