Clinicopath Conf,Systemic Sclerosis with Scleroderma Renal Crisis
NEJM 345:596-605, Case 26-2001, 2001
Medical Complications in Long-Term Survivors with X-Linked Myotubular Myopathy
J Pediatr 134:206-214, Herman,G.E.,et al,, 1999
Muscle Pain after Exercise
Lancet 353:1062, Nielen,C.&Mazzone,P., 1999
Multiple Sclerosis, Side Effects of Interferon Beta Therapy and Their Management
Neurol 53:1622-1627, Walther,E.U.&Hohlfeld,R., 1999
Riluzole
Lancet 348:795-799, Wokke,J., 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
Osteomalacic Myopathy
Muscle & Nerve 17:578-580994., Russell,J.A., 1994
Clinicopath Conf
Polyarteritis Nodosa, with Neuropathy, Case 40-1994, NEJM 331:1293-130094., , 1994
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Diag of Occult Muscular Dystrophy:"Chance"Finding of Elevated Serum Aminotransferase Act
J Pediatr 122:254-256, Morse,R.P.&Rosman,N.P., 1993
Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
Ann Neurol 32:535-542, Gherardi,R.,et al, 1992
ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992
Complications of Acute Stroke
Lancet 339:721-724, Oppenheimer,S.&Hachinski,V., 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991
Progressive Neuropathy & Recurrent Myoglobinuria in a Child with Long-chain 3-Hydroxyacylcoenzyme A Dehydrogenase Defic
J Pediatr 118:744-746, Dionisi,C.,et al, 1991
Eosinophilia-Myalgia Syndrome, A Clinical Case Series of 21 Patients
Arch Int Med 151:533-537, Philen,R.M.,et al, 1991
Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
NEJM 324:364-369, 4111991., Haller,R.G.&Lewis,S.F., 1991
Sarcoidosis of the Nervous System, A Clinical Approach
Arch Int Med 151:1317-1321, Sharma,Om.P.&Sharma,A.D., 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Neurosarcoidosis:Signs, Course and Treatment in 35 Confirmed Cases
Medicine 69:261-276, Chapelon,C.,et al, 1990
Association of the Eosinophilia-Myalgia Syndrome with the Ingestion of Tryptophan
NEJM 322:869-873, 9261990., Hertzman,P.A.,et al, 1990
Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Human Leptospirosis-A Review of 50 Cases
Infection 17:10-14, Lecour,H.,et al, 1989
Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
Lancet 2:425-427, Greenberg,C.R.,et al, 1988
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Cholesterol Crystal Embolization:A Review of 221 Cases in the English Literature
Angiology 38:769-784, Fine,M.J.,et al, 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Clinicopath Conf
Malignant Lymphoma, Intravascular, Large-Cell, Immunoblastic type (Malignant Angioendotheliomatosis), , Case86,NEJM 315:874-885,1986., 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Myocardial Damage from Acute Cerebral Lesions
Stroke 15:990-993, Kolin,A.,et al, 1984
Diagnostic Delay in Duchenne's Muscular Dystrophy
JAMA 247:478-480, Crisp,D.E.,et al, 1982
Hypoparathyroidism & Elevated Muscle Enzymes
Neurol 30:192-195, Shane,E.,et al, 1980
Peripheral Source of MB Band of Creatine Kinase in Alcoholic Rhabdomyolysis
JAMA 244:580-582, Siegel,A.J., 1980
Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980
Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980
Serum LDH-5 in Carriers of Duchenne Muscular Dystrophy
Neurol 29:239-241, Burt,D.,et al, 1979
Elevated Skeletal-Muscle Enzymes During Quinidine Therapy
NEJM 300:1218, Weiss,M.,et al, 1979
Insulin-Induced Weakness in Hypokalemic Myopathy
Ann Neurol 6:139-140, Ruff,R.L., 1979
Creatine Phosphokinase MB Band In Oculopharyngeal Muscular Dystrophy
(Letter) NEJM 301:270979., Diskin,C.J., 1979
Haemophilic Neuromyopathy
JNNP 42:600-605, Defaria,C.R.,et al, 1979
Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979