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Neurology|December 6, 2013
Neuroimaging and clinical features in type II (late-onset) Alexander diseaseJonathan Graff-Radford, Kara Schwartz, Ralitza H Gavrilova, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|February 7, 2024
Optic Neuropathy and Myelopathy in a Teenager With Biotinidase DeficiencyKevin D Chodnicki, Allen J Aksamit, Ralitza H Gavrilova, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|October 13, 2018
CKD Due to a Novel Mitochondrial DNA Mutation: A Case ReportFernando C Fervenza, Ralitza H Gavrilova, Samih H Nasr, et al.
JIMD Reports|February 23, 2013
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 GeneWaleed Brinjikji, Jerry W Swanson, Carrie Zabel, et al.
Journal of Child Neurology|July 28, 2020
Iron Deficiency and Its Role in Sleep Disruption in Patients With Angelman SyndromeConor S Ryan, Wendy Edlund, Jay Mandrekar, et al.
Cold Spring Harbor Molecular Case Studies|August 21, 2019
Three rare disease diagnoses in one patient through exome sequencingAlejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, et al.
Child Neurology Open|October 29, 2020
Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case ReportNicole J Boczek, Erica L Macke, Jennifer Kemppainen, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|September 3, 2017
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic diseaseSasha Mansukhani, Mai Lan Ho, Ralitza H Gavrilova, et al.
Anesthesiology and Pain Medicine|April 27, 2018
Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the LiteratureMary Ellen Warner, David P Martin, Mark A Warner, et al.
Canadian Journal of Anaesthesia = Journal Canadien D'Anesthesie|June 10, 2011
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case seriesCarmelina Gurrieri, Jonathon E Kivela, Katarina Bojanić, et al.
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