A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
A Clinical Triad to Diagnose Paraneoplastic Retinopathy
Ann Neurol 28:162-167, Jacobson,D.M.,et al, 1990
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
Cancer-Associated Retinopathy (Car Syndrome) with Antibodies Reacting with Retinal, Optic-Nerve, and Cancer Cells
NEJM 321:1589-1594, 1607-16081989., Thirkill,C.E.,et al, 1989
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
Ann Neurol 24:692-694, Sethi,K.D.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Paraneoplastic Syndromes Involving the Eyes
In Walsh & Hoyt's Clin Neuro-ophthal, 4th ed, Williams & Wilkins, Vol 3, p 1735-1746, Miller,N.R., 1988
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978
Tapetoretinal Degeneration in Childhood Presenting as a Disturbance of Behavior
BMJ 202, 1972 Jan., Harcourt,B.,et al, 1972
Optic-Nerve Degeneration in Alzheimer's Disease
NEJM 315:485-487, Hinton,D.R.,et al, 1986
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978