Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Myotonic Dystrophy
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
Arch Neurol 35:189, Eng,G.D.,et al, 1978
Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009
Autoimmune Targets of Heart and Skeletal Muscles in Myasthenia Gravis
Arch Neurol 66:1334-1338, 1322, Suzuki,S.,et al, 2009
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Electroencephalography Laboratory Diagnosis of Prolonged QT Interval
Ann Neurol 28:387-390, Gospe,S.M.&Gabor,A.J., 1990
Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
Ann Neurol 25:514-516, Gospe,S.M.&Choy,M., 1989
Current Concepts in the Idiopathic Inflammatory Myopathies:Polymyositis, Dermatomyositis, and Related Disorders
Ann Int Med 111:143-157, Plotz,P.H.,et al, 1989
Orbital Myositis and Giant Cell Myocarditis
Neurol 39:988-990, Klein,B.R.,et al, 1989
Refsum Disease
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Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
J Child Neurol 4:273-282, Merlini,L.,et al, 1989
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Inflammatory Myopathies
Ann Neurol 17:215-227, 317-3231985., Mastaglia,F.L.,et al, 1985
The Malignant Hyperthermia Syndrome
NEJM 309:416-418, Nelson,T.E.,et al, 1983
Proximal Myopathy after Prolonged Total Therapeutic Starvation
BMJ 280:1212-1213, Scobie,I.N.,et al, 1980
Emery-Dreifuss Muscular Dystrophy
Ann Neurol 5:111-117, Rowland,L.P.,et al, 1979
Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978
Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977
An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
JNNP 40:1102, Selby,P.J.,et al, 1977
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