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
Signal Loss in the Motor Cortex on Magnetic Resonance Images in Amyotrophic Lateral Sclerosis
Ann Neurol 33:218-222, Ishikawa,K.,et al, 1993
Amyotrophic Lateral Sclerosis:Hyperintensity of the Corticospinal Tracts on MR of Spinal Cord
AJR 160:604-606, Friedman,D.P.&Tartaglino,L.M., 1993
Cell Culture Evidence for Neuronal Degeneration in ALS to Glutamate AMPA/Kainate Receptors
Lancet 341:265-268, Couratier,P.,et al, 1993
Home Ventilation for ALS Patients:Outcomes, Costs, and Patient, Family and Physician Attitudes
Neurol 43:438-443, Moss,A.H.,et al, 1993
Motor Neuron Diseases and Amyotrophic Lateral Sclerosis:GM1 Antibodies and Paraproteinemia
Neurol 43:418-420, Sanders,K.A.,et al, 1993
Competent Pts with Adv States of Perm Paralysis Have the Right to Forgo Life-Sustaining Therapy
Neurol 43:224-225, Bernat,J.L.,et al, 1993
Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
Ann Neurol 32:535-542, Gherardi,R.,et al, 1992
Serum Antibodies to L-Type Calcium Channels in Patients with Amyotrophic Lateral Sclerosis
NEJM 327:1721-1728, 17521992., Smith,R.G.,et al, 1992
Clinicopath Conf
Motor Neuron Disease, Progressive-Muscular-Atrophy Type, Case 43-1992, NEJM 327:1298-130592., , 1992
MRI and SPECT in Amyotrophic Lateral Sclerosis, Demonstr of Upper Motor Neurone Invol by Neuroimaging
Neuroradiology 34:389-393, Udaka,F.,et al, 1992
Motor Neurone Disease
BMJ 304:459-460, Norris,F.H., 1992
Motor Neurone Disease:A Hospice Perspective
BMJ 304:471-473, O'Brien,T.,et al, 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
Decreased Glutamate Transport by the Brain and Spinal Cord in Amyotrophic Lateral Sclerosis
NEJM 326:1464-1468, 14931992., Rothstein,J.D.,et al, 1992
Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992
Amyotrophic Lateral Sclerosis and Lymphoma:Bone Marroe Examination and Other Diagnostic Tests
Neurol 42:1101-1102, Rowland,L.P.,et al, 1992
Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 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
Detection of Duchenne and Becker MD Carriers by Quant Multiplex Polymerase Chain Reaction
Neurol 42:1783-1790, Ioannou,P.,et al, 1992
Surgical Treatment of Cervical Spondylotic Myelopathy:Time for a Controlled Trial
Neurol 42:5-13, Rowland,L.P., 1992
Fasioscapulohumeral and Scapuloperoneal Syndromes
In Handbook Clin Neurol 62:161-177, Munsat,T.L.&Serratrice,G., 1992
Progressive Motor Neuron Disease Associated with Electrical Injury
Muscle & Nerve 14:977-980991., Sirdofsky,M.D.,et al, 1991
Olfactory Impairment in Motor Neuron Disease:A Pilot Study
JNNP 54:927-928, Elian,M., 1991
Subacute, Reversible Motor Neuron Disease
Neurol 41:1541-1544, Tucker,T.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Hearing Loss in Facioscapulohumeral Muscular Dystrophy
Neurol 41:1878-1881, Brouwer,O.F.,et al, 1991
Pick's Disease:A Case Clinically Resembling Amyotrophic Lateral Sclerosis
Neurol 41:1831-1833, Sam,M.,et al, 1991
Lymphoma, Motor Neuron Diseases, and Amyotrophic Lateral Sclerosis
Ann Neurol 29:78-86, Younger,D.S.,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
NEJM 324:364-369, 4111991., Haller,R.G.&Lewis,S.F., 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
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Parental Sex Effect in Familial Amyotrophic Lateral Sclerosis
Neurol 41:1292-1294, Leone,M., 1991
Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
NEJM 324:1381-1384, 1430-14321991., Siddique,T.,et al, 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,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
Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990
What Causes Motoneuron Disease?
Editorial, Lancet 336:1033-10351990., , 1990
Misdiagnosis in Patients with Amyotrophic Lateral Sclerosis
Arch Int Med 150:2301-2305, Belsh,J.M.&Schiffman,P.L., 1990
Clinical Features and Associations of 560 Cases of Motor Neuron Disease
JNNP 53:1043-1045, Li,T.,et al, 1990
X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
Arch Neurol 47:1117-1120, Warner,C.L.,et al, 1990
Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
Neurol 40:671-676, Speer,M.C.,et al, 1990
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990