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BMJ Case Reports|May 11, 2013
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorderJacqueline Brady, Aditi Trehan, Dennis Landis, et al.Current Opinion in Hematology|March 19, 2019
Emerging molecular mechanisms of vascular dementiaMilagros C Romay, Camilo Toro, M Luisa Iruela-ArispeOrphanet Journal of Rare Diseases|August 5, 2020
A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)Elin Haf Davies, Jean Johnston, Camilo Toro, et al.Human Mutation|September 12, 2017
A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activityRyan H Purcell, Camilo Toro, William A Gahl, et al.Neurology. Genetics|August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral CalcificationsChangrui Xiao, Thomas Cassini, Daniel Benavides, et al.Muscle & Nerve|July 19, 2016
Peripheral nervous system manifestations of Chediak-Higashi diseaseTanya J Lehky, Catherine Groden, Barbara Lear, et al.Pediatric Neurology|August 24, 2013
Idiopathic basal ganglia calcifications: an atypical presentation of PKANYvonne W Wu, Christopher P Hess, Nilika S Singhal, et al.Archives of Rehabilitation Research and Clinical Translation|January 1, 2026
Rehabilitation of High-Level Dynamic Balance Skills in an Individual With Significant Nonprogressive Cerebellar Atrophy: Case ReportEarllaine Croarkin, Joseph A Shrader, Pashtun Shahim, et al.Journal of Neuroimmunology|December 2, 2023
Adult-onset neurodegeneration in XMEN diseaseDaniel Benavides, Anusha Ebrahim, Juan C Ravell, et al.Clinical Neurophysiology Practice|July 8, 2022
Myoclonus generators in sialidosisFelipe Vial, Patrick McGurrin, Sanaz Attaripour, et al.Pageof 16