Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Duchenne Muscular Dystrophy
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Muscular Dystrophies
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Cancer Risk Among Patients with Myotonic Muscular Dystrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Congenital Muscular Dystrophy
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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Molecular Genetics in Neurology
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The Polymerase Chain Reaction:Application to Nervous System Disease
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The Heart in Myotonic Dystrophy
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Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
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Congenital Muscular Dystrophy
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Cardiac Involvement in Myotonic Muscular Dystrophy
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Clinical Symposia, Scoliosis
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Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
Neurol 94:e1094-e1102, Verdu-Diaz, J.,et al, 2020
Long-term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study
Lancet 391:451-461, McDonald, C.M.,et al, 2018
Persistent Respiratory Failure Following Cardiac Arrest
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Electrophysiological Study with Prophylactic Pacing and Survival in Adults with Myotonic Dystrophy and Conduction System Disease
JAMA 307:1292-1301, Wahbi,K.,et al, 2012
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
A 49-Year-Old Man with Contractures, Weakness, and Cardiac Arrhythmia
Neurol 72:2036-2043, Kissel,J.T.,et al, 2009
Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1
NEJM 358:2688-2697, Groh,W.J.,et al, 2008
Orthopedic Outcomes of Long-Term Daily Corticosteroid Treatment in Duchenne Muscular Dystrophy
Neurol 68:1607-1613, King,W.M.,et al, 2007
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Practice Parameter: Corticosteroid Treatment of Duchenne Dystrophy
Neurol 64:13-20, Moxley,R.T. III.,et al, 2005
Intermittent Prednisone Therapy in Duchenne Muscular Dystrophy
Arch Neurol 62:128-132, Beenakker,E.A.C.,et al, 2005
Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy
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Cardiac Dysfunction in Neuromuscular Diseases
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Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
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Cardiac Involvement in Genetically Confirmed Facioscapulohumeral Muscular Dystrophy
Neurol 51:1454-1456, Laforet,P.,et al, 1998
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Brain Abnormalities in Duchenne Muscular Dystrophy:Phosphorus-31 Magnetic Resonance Spectroscopy & Neuropsych Study
Lancet 345:1260-1264, Tracey,I.,et al, 1995
Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
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Myotonic Dystrophy
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Duchenne Dystrophy:Randomized, Controlled Trial of Prednisone (18 months) & Azathioprine (12 months)
Neurol 43:520-527, Griggs,R.C.,et al, 1993
Cyclosporine Increases Muscular Force Generation in Duchenne Muscular Dystrophy
Neurol 43:527-532, Sharma,K.R.,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
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Myotonic Heart Disease:A Clinical Follow-Up
Neurol 41:259-262, Hawley,R.J.,et al, 1991
Prednisone in Duchenne Dystrophy, A Randomized, Controlled Trial Defining the Time Course & Dose Response
Arch Neurol 48:383-388, Griggs,R.C.,et al, 1991
Mononuclear Cell Analysis of Muscle Biopsies in Prednisone-Treated & Untreated Duchenne Muscular Dystrophy
Neurol 41:667-672, Kissel,J.T.,et al, 1991
A Comparison of Daily and Alternate-Day Prednisone Therapy in the Treatment of Duchenne Muscular Dystrophy
Arch Neurol 48:575-579, Fenichel,G.M.,et al, 1991