Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
MELAS
MedLink.com, August, Klopstock, T., 2012
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
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
A 63-Year-Old Woman Presenting with Bilateral Leg Pain
Neurol 96:343-348, Budhu, J.,et al, 2021
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020
A 32-year-old Woman with Right-Sided Numbness and Word-Finding Difficulties
Neurol 83:e98-e102, Busza, A.,et al, 2014
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
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Mitoxantrone Treatment of Multiple Sclerosis
Neurol 63(Suppl 6):S28-S32, Cohen,B.A. &Mikol,D.D., 2004
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Churg-Strauss Syndrome, Clinical Study and Long-Term Follow-Up of 96 Patients
Medicine 78:26-37, Guillevin,L.,et al, 1999
Clinicopath Conf
Systemic Amyloidosis with Involvement of Heart, Autonomic Nerves, Kidneys, and Lungs, Case 38-1992,, EJM 33-950,1992., 1992
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Current Concepts in the Idiopathic Inflammatory Myopathies:Polymyositis, Dermatomyositis, and Related Disorders
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Friedreich Ataxia
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Clinicopath Conf
Pheochromocytoma with Hemorrhagic Infarct, Catecholamine-Induced Dilated Cardiomyopathy, Case Record, 15988,NEJM 318:970-981,1988., 1988
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Cardiomyopathy Associated with the Syndrome of Amyotrophic Chorea & Acanthocytosis
Ann Int Med 96:616-617, Faillace,R.T.,et al, 1982