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Journal of Child Neurology|April 8, 2016
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case SeriesMarisela E Dy, Florence C F Chang, Sol De Jesus, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acidSarika U Peters, Lynne M Bird, Virginia Kimonis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
A therapeutic trial of pro-methylation dietary supplements in Angelman syndromeLynne M Bird, Wen-Hann Tan, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
American Journal on Intellectual and Developmental Disabilities|November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
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