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Clinical Case Reports|September 21, 2016
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinicNicole J Boczek, Ashley N Sigafoos, Michael T Zimmermann, et al.Frontiers in Neurology|January 31, 2018
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological FindingsTatiana Bremova-Ertl, Raphael Schiffmann, Marc C Patterson, et al.Neurology|July 31, 2023
Management and Long-term Outcomes of Adults With Medulloblastoma: A Single-Center ExperienceBryan J Neth, Aditya Raghunathan, Sani H Kizilbash, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 6, 2009
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CNicole M Yanjanin, Jorge I Vélez, Andrea Gropman, et al.Molecular Genetics and Metabolism|November 22, 2016
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleaguesRobert J Desnick, Norman W Barton, Scott Furbish, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|February 4, 2018
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 MutationsEmilie Cornec-Le Gall, Fouad T Chebib, Charles D Madsen, et al.Journal of Child Neurology|June 8, 2018
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status EpilepticusConor S Ryan, Anthony L Fine, Alexander L Cohen, et al.Journal of Neurosurgery|April 4, 2020
Pituitary adenomas in the setting of multiple endocrine neoplasia type 1: a single-institution experienceSalomon Cohen-Cohen, Desmond A Brown, Benjamin T Himes, et al.Human Molecular Genetics|June 19, 2013
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM studyPeter Bauer, David J Balding, Hans H Klünemann, et al.American Journal of Medical Genetics. Part A|December 29, 2019
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONOMaham Sewani, Kimberly Nugent, Patrick R Blackburn, et al.Pageof 16