Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
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
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Acromegaly
NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
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
Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
Mal Genet Genomic Med 10:e1955, Seed,L.M.,et al, 2022
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Cardiovascular Dysfunction in Multiple Sclerosis
Neurologist 20:108-114, Kaplan, T.B.,et al, 2015
Clinical Outcomes after Neurogenic Stress Induced Cardiomyopathy in Aneurysmal Sub-Arachnoid Hemorrhage: A Prospective Cohort Study
Clin Neurol Neurosurg 128:4-9, Kilbourn, K.J.,et al, 2015
Alcohol and Alcoholism
Adams & Victors Principles of Neurology Chp 42, pg 1186, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
MELAS
MedLink.com, August, Klopstock, T., 2012
Autoimmune Targets of Heart and Skeletal Muscles in Myasthenia Gravis
Arch Neurol 66:1334-1338, 1322, Suzuki,S.,et al, 2009
Wolff-Parkinson-White Syndrome in Patients with MELAS
Arch Neurol 64:1625-1627, Sproule,D.M.,et al, 2007
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
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
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
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
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Neurosarcoidosis:Signs, Course and Treatment in 35 Confirmed Cases
Medicine 69:261-276, Chapelon,C.,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
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Chloroquine Neuromyotoxicity, Clinical & Pathological Perspective
Am J Med 82:447-455, Estes,M.L.,et al, 1987
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Heart Disease in Myasthenia Gravis
Acta Neurol Scand 70:176-184, Hofstad,H.,et al, 1984
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978