Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Transition to Adult Care for Children with Chronic Neurological Disorders
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Palliative Care in Neurology
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Telemedicine in Neurology
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
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
Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 2016
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
Lancet 385:1748-1757,1704, Buyse, G.M.,et al, 2015
Palliative Care and Neurology
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The Limbic-Girdle Muscular Dystrophies
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Diagnosis and New Treatments in Muscular Dystrophies
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Orthopedic Outcomes of Long-Term Daily Corticosteroid Treatment in Duchenne Muscular Dystrophy
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Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges
Arch Neurol 64:1236-1241, Rodino-Klapac,L.R.,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
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The Muscular Dystrophies
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Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996
Is Chronic Respiratory Failure in Neuromuscular Diseases Worth Treating
JNNP 61:1-3, Shneerson,J.M., 1996
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Deficiency of Brain Synaptic Dystrophin in Human Duchenne Muscular Dystrophy
Ann Neurol 38:446-449, Kim,T.W.,et al, 1995
Brain Abnormalities in Duchenne Muscular Dystrophy:Phosphorus-31 Magnetic Resonance Spectroscopy & Neuropsych Study
Lancet 345:1260-1264, Tracey,I.,et al, 1995
Myoblast Transfer in the Tratment of Duchenne's Muscular Dystrophy
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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
Gene Therapy for Duchenne Dystrophy
Ann Neurol 34:3-4, Engel,A.G., 1993
Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,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
Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
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The Effect of Spine Fusion on Respiratory Function in Duchenne Muscular Dystrophy
Neurol 41:38-40, Miller,R.G.,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
Long-Term Benefit from Prednisone Therapy in Duchenne Muscular Dystrophy
Neurol 41:1874-1877, Fenichel,G.M.,et al, 1991
Night-Time Nasal Ventilation in Neuromuscular Disease
Lancet 335:579-582, Heckmatt,J.Z.,et al, 1990
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Randomized, Double-Blind Six-Month Trial of Prednisone in Duchenne's Muscular Dystrophy
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Duchenne Muscular Dystrophy:Patterns of Clinical Progression and Effects of Supportive Therapy
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Cardiac Transplantation in a Patient with Muscular Dystrophy and Cardiomyopathy
Arch Neurol 46:705-707, Donofrio,P.D.,et al, 1989
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Effect of Chronic Treatment with the Calcium Antagonist Diltiazem in Duchenne Muscular Dystrophy
Neurol 38:609-613, Bertorini,T.E.,et al, 1988
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988