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
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
Neurol 34:1531-1541, Williams,R.S.,et al, 1984
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
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012
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
Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
Visual Impairment in Patients with Neurofibromatosis 2
Neurol 43:622-623, Bouzas,E.A.,et al, 1993
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Dominant Chondrodysplasia Punctata with Neurologic Symptoms
Neurol 33:1095-1097, Curless,R.G., 1983
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
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977
Rubella, Clinical Manifestations & Management
Am J Dis Child 118:18-29, Cooper,L.Z.,et al, 1969
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962