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
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
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
Editorial, Lancet 339:528-5291992., , 1992
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 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
Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
Ann Neurol 32:535-542, Gherardi,R.,et al, 1992
Intracerebral Bacillary Angiomatosis in a Patient Infected with Human Immunodeficiency Virus
Ann Int Med 116:740-742, Spach,D.H.,et al, 1992
Clinicopath Conf
Cat-Scratch Disease, with Encephalopathy, Case 22-1992, NEJM 326:1480-148992., , 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
Fasioscapulohumeral and Scapuloperoneal Syndromes
In Handbook Clin Neurol 62:161-177, Munsat,T.L.&Serratrice,G., 1992
The Use of Magnetic Resonance Imaging in Diagnosing Infantile Neuroaxonal Dystrophy
Neurol 43:110-113, Tanabe,Y.,et al, 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
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 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
Congenital Monomelic Hypertrophy with Progressive Myopathy
Arch Neurol 48:107-110, Shukla,A.,et al, 1991
Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
NEJM 324:364-369, 4111991., Haller,R.G.&Lewis,S.F., 1991
The Effect of Spine Fusion on Respiratory Function in Duchenne Muscular Dystrophy
Neurol 41:38-40, Miller,R.G.,et al, 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
Cat Scratch Disease, Acute Encephalopathy & Other Neurologic Manifestations
Am J Dis Child 145:98-101, Carithers,H.A.&Margileth,A.M., 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
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Long-Term Benefit from Prednisone Therapy in Duchenne Muscular Dystrophy
Neurol 41:1874-1877, Fenichel,G.M.,et al, 1991
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
Stroke-Like Syndrome, Mineralizing Microangiopathy, and Neuroaxonal Dyst with Intrathecal Methotrexate
Neurol 41:1847-1848, Phanthumchinda,K.,et al, 1991
Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
Quadriceps Myopathy:Forme Fruste of Becker Muscular Dystrophy
Ann Neurol 28:634-639, Sunohara,N.,et al, 1990
Dystrophin Analysis in Duchenne & Becker Muscular Dystrophy Carriers:Correl with Intracellular Calcium & Albumin
Ann Neurol 28:674-679, Morandi,L.,et al, 1990
Perineal Reflex Sympathetic Dystrophy Treated with Bilateral Lumbar Sympathectomy
Ann Int Med 113:633-634, Olson,W.L., 1990