Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,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
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995
Evidence for Cardioembolic Stroke in a Case of Kearns-Sayre Syndrome
Stroke 26:1950-1952, Kosinski,C.,et al, 1995
Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Rapidly Evolving Myopathy with Myosin-Deficient Muscle Fibers
Ann Neurol 35:273-279, 2571994., Al-Lozi,M.T.,et al, 1994
Distal Vacuolar Myopathy in Nephropathic Cystinosis
Ann Neurol 35:181-188, Charnas,L.R.,et al, 1994
Relation of Alcoholic Myopathy to Cardiomyopathy
Ann Int Med 120:529-536, Fernandez-Sola,J.,et al, 1994
Clinicopath Conf
Chronic Idiopathic Anhidrosis, Case 29-1994, NEJM 331:259-265994., , 1994
A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994
Antibiotic Induced Meningitis
JNNP 57:705-708, River,Y.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Further Reg Var of Acute Polyneuro:Bifacial or 6th Nerve Paresis, Lumbar Polyrad & Ataxia/Phary Cervical-Brachial Wkness
Arch Neurol 51:671-675, Ropper,A.H., 1994
Ekbom's Syndrome:Lypomas, Ataxia, and Neuropathy with MERRF
Muscle & Nerve 17:943-945994., Calabresi,P.,et al, 1994
Congenital Myopathies
Muscle & Nerve 17:131-144994., Bodensteiner,J.B., 1994
Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
J Pediatr 124:636-638, Sandler,D.L.,et al, 1994
Benign Familial Disease with Muscle Mounding and Rippling
JNNP 57:344-347, Burns,R.J.,et al, 1994
The Dropped Head Syndrome with Chronic Inflammatory Demyelinating Polyneuropathy
Muscle & Nerve 17:808-810994., Hoffman,D.&Gutmann,L., 1994
Osteomalacic Myopathy
Muscle & Nerve 17:578-580994., Russell,J.A., 1994
Clinicopath Conf
Small Cell CA (of lung) with Lambert-Eaton Myasthenic Syndr, Case 32-1994, NEJM 331:528-5354., , 1994
Posttraumatic Headache
Semin Neurol 14:40-45, Packard,R.C., 1994
Mild Head Injury
(Ed) , Semin Neurol 14:1-9294., Packard,R.C., 1994
Becker Muscular Dystrophy with Onset after 60 Years
Neurol 44:2388-2390, Heald,A.,et al, 1994
Neurologic Manifestations of HIV Infection
Ann Int Med 121:769-785, Simpson,D.M.&Tagliati,M., 1994
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Headache
JNNP 57:134-143, Pearce,J.M.S., 1994
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Cerebral Involvement in McLeod Syndrome
Neurol 44:117-120, Danek,A.,et al, 1994
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Myopathy in the Elderly:Evaluation of the Histopathologic Spectrum and the Accuracy of Clinical Diagnosis
Neurol 43:825-828, Lacomis,D.,et al, 1993
Hyperkalemic Periodic Paralysis:Rapid Molecular Diag & Rela of Genotype to Phenotype in 12 Families
Neurol 43:668-673, Feero,W.G.,et al, 1993
Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993
Myositis-Specific Autoantibodies, Touchstones for Understanding the Inflammatory Myopathies
JAMA 270:1846-1849, Miller,F.W., 1993
Tibial Muscular Dystrophy
Arch Neurol 50:604-608, Udd,B.,et al, 1993
Clinicopath Conf
Axonal Polyneuritis Assoc with IgA Lambda Multiple Myeloma, Case 21-1993, NEJM 328:1550-1558993., , 1993
Acute Neuromuscular Respiratory Paralysis
JNNP 56:334-343, Hughes,R.A.C.&Bihari,D., 1993
The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993
Human Immunodeficiency Virus Type 1 Infection and Myopathy:Clinical Relevance of Zidovudine Therapy
Ann Neurol 34:206-211, Grau,J.M.,et al, 1993
Myopathies Assoc with HIV and Zidovudine:Can Their Effects be Distinguished?
Neurol 43:971-976, Simpson,D.M.,et al, 1993
MRI Changes in Intracranial Hypotension
Neurol 43:919-926, Pannullo,S.C.,et al, 1993
Fulminant Rhabdomyolysis in a Patient with Dermatomyositis
Neurol 43:844-845, Caccamo,D.V.,et al, 1993
Drug Therapy of Idiopathic Inflammatory Myopathies:Response to Prednisone Azathioprine, & Methotrexate
Am J Med 94:379-387, Joffe,M.M.,et al, 1993