Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
Neurol 34:1531-1541, Williams,R.S.,et al, 1984
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992
Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
Ann Neurol 27:448-449, Katafuchi,Y.,et al, 1990
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,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
Myotonic Dystrophy
In Harrison's Principles of Internal Medicine, 9th Ed, McGraw-Hill Book Co, NY 206180., Adams,R.D.,et al, 1980
Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978
Peripheral Neuropathy in Myotonic Dystrophy
Arch Neurol 35:741-745, Olson,N.D.,et al, 1978
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Blurred Vision
BMJ 368:m569, Zhou, S.,et al, 2020
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
Neurol 78:e113-e114, Seixas,J.C.,et al, 2012
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Risks and Benefits of Anticoagulant and Antiplatelet Medication Use Before Cataract Surgery
Ophthalmology 110:1784-1788, Katz,J.,et al, 2003
Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000
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
Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
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
Takayasu's Arteritis
Stroke Syndromes, Eds Bogousslavsky & Caplan, Cambridge Univ Press, Chp 48, p 439-442, Naritomi,H., 1995
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
Neurologic Manifestations of Giant Cell Arteritis
Am J Med 89:67-72, Reich,K.A.,et al, 1990
Inflammatory Angiopathies
In Cerebrovascular Disorders, Raven Press NY, p 381, Toole,J.F., 1990
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979
Sarcoidosis & Its Ophthalmic Manifestations
Am J Ophthmol 86:648-655, Obenauf,C.D.,et al, 1978
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Hemifacial Atrophy
Brit J Oral Surg 9:102, Vickery,I.M., 1971
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962