Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Acute Myopia and Angle Closure Glaucoma from Topiramate in a Seven-Year-Old: A Case Report and Review of the Literature
BMC Pediatrics 14:96, Rapoport, Y.,et al, 2014
Acute Myopia and Angle-Closure Glaucoma Induced by Topiramate
Neurol 61:1306, Boentert,M.,et al, 2003
Uveal Effusion and Secondary Angle-Closure Glaucoma Associated with Topiramate Use
Arch Ophthalmol 119:1210-1211, Sankar,P.S., 2001
The Neurotoxicity of Antibacterial Agents
Ann Int Med 101:92-104, Snavely,S.R.,et al, 1984
Marfan Syndrome
NEJM 300:772-777, Pyeritz,R.E.,et al, 1979
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979
Axial Myopia (A Neglected Cause of Proptosis)
Arch Neurol 35:237, Osher,R.H.,et al, 1978
Misdiagnosis of Spasm of the Near Reflex
Neurol 26:1018, Griffin,J.F.,et al, 1976
The Relationship of Motility Problems to Reading Problems
MCV Quart 8:298, McNeer,K., 1972