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Genetics|April 25, 2023
Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesisSarah E Wetzel-Strong, Francesca Galeffi, Christian Benavides, et al.
Molecular and Cellular Neurosciences|May 3, 2003
Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesisDeborah R S Cohen, Valéry Matarazzo, Amy M Palmer, et al.
American Journal of Medical Genetics. Part A|March 3, 2009
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular functionNathaniel D Miller, Melonie A Nance, Elizabeth S Wohler, et al.
Neurogenetics|May 14, 2005
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegiaIngrid K Svenson, Mark T Kloos, Amy Jacon, et al.
Biorxiv : the Preprint Server for Biology|March 10, 2025
Targeting the ferroptosis pathway: A novel compound, AZD1390, protects the brain after ischemic strokeHan Kyu Lee, Chao-Chieh Lin, Denise E Dunn, et al.
ACS Pharmacology & Translational Science|May 20, 2022
Rapamycin in Cerebral Cavernous Malformations: What Doses to Test in Mice and HumansMatthew J Hagan, Robert Shenkar, Abhinav Srinath, et al.
Pediatric Neurology|March 22, 2016
Anticonvulsant Efficacy in Sturge-Weber SyndromeEmma H Kaplan, Eric H Kossoff, Catherine D Bachur, et al.
Pediatric Neurology|September 6, 2005
Cerebrospinal fluid and serum markers of inflammation in autismAndrew W Zimmerman, Harumi Jyonouchi, Anne M Comi, et al.
Pediatric Neurology|September 19, 2019
Quality of Life in Children With Sturge-Weber SyndromeKelly A Harmon, Alyssa M Day, Adrienne M Hammill, et al.
Archives of Dermatology|September 22, 2010
Effect of a single application of pulsed dye laser treatment of port-wine birthmarks on intraocular pressureSusan Y Quan, Anne M Comi, Cameron F Parsa, et al.
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