Muscular Dystrophies
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Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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A 49-Year-Old Man with Contractures, Weakness, and Cardiac Arrhythmia
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Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Emery-Dreifuss Muscular Dystrophy
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
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Telemedicine in Neurology
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"Boule Du Biceps" in Dysferlinopathy
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Duchenne Muscular Dystrophy
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Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
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Persistent Respiratory Failure Following Cardiac Arrest
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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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Long-term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study
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Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
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Brain Imaging in Myotonic Dystrophy Type 1
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
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A 30-year-old Man with Progressive Weakness and Atrophy
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Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 2016
A Neonate with Micrognathia and Hypotonia
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Efficacy of Idebenone on Respiratory Function in Patients with Duchenne Muscular Dystrophy not using Glucocorticoids (DELOS): A Double-Blind Randomised Placebo-Controlled Phase 3 Trial
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Palliative Care and Neurology
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A 52-year-old Woman with Progressive Proximal Weakness
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The Limbic-Girdle Muscular Dystrophies
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Electrophysiological Study with Prophylactic Pacing and Survival in Adults with Myotonic Dystrophy and Conduction System Disease
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Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Cancer Risk Among Patients with Myotonic Muscular Dystrophy
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Myoglobinuria and Muscle Pain are Common in Patients With Limb-Girdle Muscular Dystrophy 21
Neurol 76:194-195, Mathews,K.D.,et al, 2011
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
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Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Mexiletine Is an Effective Antimyotonia Treatment in Myotonic Dystrophy Type 1
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Clinical Features of Facioscapulohumeral Muscular Dystrophy 2
Neurol 75:1548-1554, Greef,J.C.,et al, 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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