Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997
Turning a Blind Eye
Lancet 349:1740, Bapat,V.N.&Tendolkar,A.G., 1997
Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
Muscle & Nerve 18:782-783995., Stoll,G.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
Ann Neurol 27:448-449, Katafuchi,Y.,et al, 1990
A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
Ann Neurol 27:193-199, Lyon,G.,et al, 1990
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Idiopathic Hypoparathyroidism Presenting as Dementia
Neurol 29:393-394, Slyter,H., 1979
A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
Arch Neurol 36:553-556, Barron,S.A.,et al, 1979
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979
Clinical Pathological Conference-The Man Without a History-CA of Lung with Marantic Endocarditis & Cerebral Emboli
JAMA 227:1052, Locke,S.,et al, 1974
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972