Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993
Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993
Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993
Clinical and Magnetic Resonance Features of the Classic & Akinetic-Rigid Variants of Huntington's Dis
Arch Neurol 50:17-19, Oliva,D.,et al, 1993
The Psychological Consequences of Predictive Testing for Huntington's Disease
NEJM 327:1401-1405, 14491992., Wiggins,S.,et al, 1992
Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
Ann Neurol 32:535-542, Gherardi,R.,et al, 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
NEJM 327:1100, Minetti,C.&Bonilla,E., 1992
Upper Gastrointestinal Tract Motility in Children with Progressive Muscular Dystrophy
J Pediatr 121:720-724, Staiano,A.,et al, 1992
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Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 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
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992
Putamen Volume Reduction on Magnetic Resonance Imaging Exceeds Caudate Changes in Mild Huntington's Disease
Ann Neurol 31:69-75, Harris,G.J.,et al, 1992
Postural Stability in Patients with Huntington's Disease
Neurol 42:1232-1238, Tian,J.,et al, 1992
Presymptomatic Testing for Huntington's Disease in the United Kingdom
BMJ 304:1593-1596, Tyler,A.,et al, 1992
Dystrophinopathy in Isolated Cases of Myopathy in Females
Neurol 42:967-975, Hoffman,E.P.,et al, 1992
Detection of Duchenne and Becker MD Carriers by Quant Multiplex Polymerase Chain Reaction
Neurol 42:1783-1790, Ioannou,P.,et al, 1992
Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992
Oculomotor, Auditory, and Vestib ular Responses in Myotonic Dystrophy
Arch Neurol 49:954-960, Verhagen,W.I.M.,et al, 1992
Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992
Phenotypic Expression of the Myotonic Dystrophy Gene in Monozygotic Twins
Neurol 42:1815-1817, Dubel,J.R.,et al, 1992
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Serial Changes of Cerebral Glucose Metab & Caudate Size in Persons at Risk for Huntington's Dis
Arch Neurol 49:1161-1167, Grafton,S.T.,et al, 1992
Delayed Diagnosis of Juvenile Myoclonic Epilepsy
JNNP 55:497-499, Grunewald,R.A.,et al, 1992
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Huntington's Diseae, Case2-1992, NEJM 326:117-125992., , 1992
A Follow-Up Study of Isolated Cases of Suspected Huntington's Disease
Ann Neurol 31:293-298, Bateman,D.,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
The Heart in Myotonic Dystrophy
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Fasioscapulohumeral and Scapuloperoneal Syndromes
In Handbook Clin Neurol 62:161-177, Munsat,T.L.&Serratrice,G., 1992
Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Ventricular Late Potentials in Myotonic Dystrophy
Ann Int Med 115:607-613, Milner,M.R.,et al, 1991
Hearing Loss in Facioscapulohumeral Muscular Dystrophy
Neurol 41:1878-1881, Brouwer,O.F.,et al, 1991
Myasthenia Gravis in Mothers and Their Newborns
Clin Obstet Gynecol 34:82-99, Plauche,W.C., 1991
Prednisone in Duchenne Dystrophy, A Randomized, Controlled Trial Defining the Time Course & Dose Response
Arch Neurol 48:383-388, Griggs,R.C.,et al, 1991
Mononuclear Cell Analysis of Muscle Biopsies in Prednisone-Treated & Untreated Duchenne Muscular Dystrophy
Neurol 41:667-672, Kissel,J.T.,et al, 1991
A Comparison of Daily and Alternate-Day Prednisone Therapy in the Treatment of Duchenne Muscular Dystrophy
Arch Neurol 48:575-579, Fenichel,G.M.,et al, 1991
Prevalence and Incidence of Becker Muscular Dystrophy
Lancet 337:1022-1024, Bushby,K.M.D.,et al, 1991
The Frequency of Patients with Dystrophic Abnormalities in a Limb-Girdle Patient Population
Neurol 41:1491-1496, Arikawa,E.,et al, 1991
Autosomal Recessive Distal Dystrophy
Neurol 41:1365-1370, Barohn,R.J.,et al, 1991
Welander's Distal Myopathy:Clinical Neurophysiol & Muscle Biopsy Obser in Young & Middle Aged Adults with Early Symptoms
JNNP 54:494-498, Borg,K., 1991
Ideomotor Apraxia in Huntington's Disease
Arch Neurol 48:35-41, Shelton,P.A.&Knopman,D.S., 1991
Myoclonus in Adult Huntington's Disease
Ann Neurol 29:213-215, Vogel,C.M.,et al, 1991
Neonatal Lupus Erythematosus Simulating Transient Myasthenia Gravis at Presentation
J Pediatr 118:417-419, Rider,L.G.,et al, 1991
The Effect of Spine Fusion on Respiratory Function in Duchenne Muscular Dystrophy
Neurol 41:38-40, Miller,R.G.,et al, 1991
Myotonic Heart Disease:A Clinical Follow-Up
Neurol 41:259-262, Hawley,R.J.,et al, 1991
Response to Treatment with Antihistamines in a Family with Myotonia Congenita
Lancet 337:28-30, Hughes,E.F.&Wilson,J., 1991
Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
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