Current and Emerging Issues in Wilsons Disease
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Muscular Dystrophies
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Diagnosis and New Treatments in Muscular Dystrophies
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Glycogen-Storage Disease Type II
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Clinicopathologic Conference, Reversible Cerebral Vasoconstriction Syndrome with Takotsubo Cardiomyopathy
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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Hearing and Vision Loss in an Older Man
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
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Hypertrophic Cardiomyopathy A Systematic Review
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Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
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Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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Clinicopathologic Conference, Chagas Disease
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Acromegaly
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A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
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Melas Syndrome
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Extrapulmonary Manifestations of Sarcoidosis
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Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Diagnostic Challenges in a Young Patient with Hypereosinophilia
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A 52-year-old Woman with Progressive Proximal Weakness
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Alcohol and Alcoholism
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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MELAS
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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
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Extension of the Clinical Spectrum of Danon Disease
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Antithrombotic and Interventional Treatment Options in Cardioembolic Transient Ischaemic Attack and Ischaemic Stroke
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Wolff-Parkinson-White Syndrome in Patients with MELAS
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Mitochondrial DNA Polymerase-y and Human Disease
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Mitoxantrone Treatment of Multiple Sclerosis
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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
Difficult Asthma or Churg-Strauss Syndrome? Steroids May be Masking Undiagnosed Cases of Churg-Strauss Syndrome
BMJ 318:475-476, D'Cruz,D.P.,et al, 1999
Churg-Strauss Syndrome, Clinical Study and Long-Term Follow-Up of 96 Patients
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Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
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Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
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Treatment of End Stage Dilated Cardiomyopathy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Mitochondrial DNA and Disease
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Brief Report:Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
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Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993
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