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American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.
JCI Insight|August 22, 2024
NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich's AtaxiaCaroline E Perry, Sarah M Halawani, Sarmistha Mukherjee, et al.
The Lancet. Neurology|April 20, 2026
Safety and efficacy of individualised exercise and NAD+ precursor supplementation in patients with Friedreich's ataxia in the USA: a single-centre, 2 × 2 factorial, randomised controlled trialKimberly Y Lin, Anna Bucha, Kara McSweeney, et al.
Annals of Clinical and Translational Neurology|December 11, 2014
High prevalence of NMDA receptor IgA/IgM antibodies in different dementia typesSarah Doss, Klaus-Peter Wandinger, Bradley T Hyman, et al.
Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.
Annals of Neurology|March 22, 2025
Neuroimaging Biomarkers for Friedreich Ataxia: A Cross-Sectional Analysis of the TRACK-FA StudyNellie Georgiou-Karistianis, Louise A Corben, Eric F Lock, et al.
Cell Reports|July 27, 2012
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsionsHsien-Yang Lee, Yong Huang, Nadine Bruneau, et al.
Radiology. Artificial Intelligence|August 6, 2025
Automated Deep Learning-based Segmentation of the Dentate Nucleus Using Quantitative Susceptibility Mapping MRIDiogo H Shiraishi, Susmita Saha, Isaac M Adanyeguh, et al.
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