Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
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
Neuroleptic Malignant Syndrome
NEJM 391:1130-1138, Wijdicks,E.F.M. & Ropper,A.H., 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
A 57-year-old Man with Subacute Gait Difficulty and Hand Tremor
Neurol 87:e110-e113, Paliwal, V.K.,et al, 2016
Anti-HMGCR Autoantibodies in European Patients with Autoimmune Necrotizing Myopathies
Medicine 93:150-157, Allenbach, Y.,et al, 2014
Clinical Reasoning: A 34-year-old man with recurrent limb weakness
Neurol 77:e68-e72, Karam, C.,et al, 2011
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Diagnosis of Psychogenic Nonepileptic Status Epilepticus in the Emergency Setting
Neurol 66:1727-1729, Holtkamp,M.,et al, 2006
Myocardial Injury and Left Ventricular Performance After Subarachnoid Hemorrhage
Stroke 30:780-786, Mayer,S.A.,et al, 1999
Weak at the Knees
Lancet 354:1696, Webster,G.&Beynon,H., 1999
Multifocal Motor Neuropathy
JNNP 60:599-603, Nobile-Orazio,E., 1996
Cardiac Injury Associated with Neurogenic Pulmonary Edema Following Subarachnoid Hemorrhage
Neurol 44:815-820, Mayer,S.A.,et al, 1994
Missed Neuroleptic Malignant Syndrome
BMJ 304:831-832, Renwick,D.S.,et al, 1992
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Serum Creatine Kinase B Concentrations in Acute Cerebrovascular Diseases
Arch Neurol 41:1175-1178, Pfeiffer,F.E.,et al, 1984
Electrocardiographic Changes & Myocardial Damage in Patients with Acute Cerebrovascular Accidents
Stroke 8:448, Dimant,J.,et al, 1977
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
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
Cerebral Involvement in McLeod Syndrome
Neurol 44:117-120, Danek,A.,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
Benign Familial Disease with Muscle Mounding and Rippling
JNNP 57:344-347, Burns,R.J.,et al, 1994
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Brief Report:Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
NEJM 329:921-925, 9601993., Muntoni,F.,et al, 1993
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Autosomal Recessive Distal Dystrophy
Neurol 41:1365-1370, Barohn,R.J.,et al, 1991