Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995
A 32-year-old Woman with Right-Sided Numbness and Word-Finding Difficulties
Neurol 83:e98-e102, Busza, A.,et al, 2014
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Neurosarcoidosis:Signs, Course and Treatment in 35 Confirmed Cases
Medicine 69:261-276, Chapelon,C.,et al, 1990
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Cardiovascular Dysfunction in Multiple Sclerosis
Neurologist 20:108-114, Kaplan, T.B.,et al, 2015
Progressive Development of Cardiomyopathy Following Altered Autonomic Activity in Status Epilepticus
Am J Physiol Heart Circ 309:1554-1564, Read, M.I.,et al, 2015
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
Neurol 77:62-66, Schade van Westrum, S.M.,et al, 2011
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Sudden Cardiac Death in Myotonic Dystrophy Type 2
Neurol 63:2402-2404, Schoser,B.G.H.,et al, 2004
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Signs and Symptoms of Duchenne Muscular Dystrophny and Becker Muscular Dystrophy Among Carriers in the Netherlands: A Cohort Study
Lancet 353:2116-2119, Hoogerwaard,E.M.,et al, 1999
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996
Evaluation of the Cardiomyopathy in Becker Muscular Dystrophy
Muscle & Nerve 18:283-291995., Nigro,G.,et al, 1995
Sudden Onset of Profound Weakness in a Toddler
J Pediatr 122:663-667, Carraccio,C.,et al, 1993
Cardiomyopathy May Be the Only Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy
Neurol 43:2342-2345, Mirabella,M.,et al, 1993
Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993
The Heart in Myotonic Dystrophy
Editorial, Lancet 339:528-5291992., , 1992
Clinicopath Conf
Systemic Amyloidosis with Involvement of Heart, Autonomic Nerves, Kidneys, and Lungs, Case 38-1992,, EJM 33-950,1992., 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
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Quadriceps Myopathy:Forme Fruste of Becker Muscular Dystrophy
Ann Neurol 28:634-639, Sunohara,N.,et al, 1990
The Effects of Alcoholism on Skeletal and Cardiac Muscle
NEJM 320:409-415, 458-4601989., Urbano-Marquez,A.,et al, 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
Duchenne Muscular Dystrophy:Patterns of Clinical Progression and Effects of Supportive Therapy
Neurol 39:475-481, Brooke,M.H.,et al, 1989
Cardiac Transplantation in a Patient with Muscular Dystrophy and Cardiomyopathy
Arch Neurol 46:705-707, Donofrio,P.D.,et al, 1989
Left Ventricular Thrombus and Systemic Emboli Complicating the Cardiomyopathy of Duchenne's Muscular Dystrophy
Arch Neurol 46:1249-1252, Gaffney,J.F.,et al, 1989
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Serial Two-dimensional Echocardiography in Duchenne Muscular Dystrophy
Neurol 32:1101-1105, Goldberg,S.J.,et al, 1982
An Autosomal-dominant Dystrophy with Humeropelvic Distribution & Cardiomyopathy
Neurol 32:1399-1401, Fenichel,G.M.,et al, 1982
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
Clofibrate-Induced Muscle Damage with Myoglobinuria & Cardiomyopathy
NEJM 296:942, Smals,A.G.H., 1977
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Diagnostic Challenges in a Young Patient with Hypereosinophilia
Neurol 89:e159-e165, Ortiz, J.G.,et al, 2017
Alcohol and Alcoholism
Adams & Victors Principles of Neurology Chp 42, pg 1186, Ropper, A.H.,et al, 2014
Guidelines for the Prevention of Stroke in Patients With Stroke or Transient Ischemic Attack: A Guideline for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:227-276, Furie,K.L.,et al, 2011
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Takotsubo Cardiomyopathy in Acute Ischemic Stroke
Ann Neurol 64:547-554, Yoshimura,S.,et al, 2008
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987