Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy
Ann Neurol 71:304-313, Mendell,J.R.,et al, 2012