Spinal Muscular Atrophy
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Muscular Dystrophies
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Diagnosis and New Treatments in Muscular Dystrophies
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The Muscular Dystrophies
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The Nondystrophic Myotonias
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Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
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Response to Treatment with Antihistamines in a Family with Myotonia Congenita
Lancet 337:28-30, Hughes,E.F.&Wilson,J., 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
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
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Treatment of Myotonia
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Effects of Acetazolamide on Myotonia
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Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Nusinersen in Adult Patients with Spinal Muscular Atrophy
Neurol 95:e413-e416, Moshe-Lilie, O.,et al, 2020
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
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Pediatric HIV Infection: Classification, Clinical Manifestations, and Outcome
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Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017
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
The Limbic-Girdle Muscular Dystrophies
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Retrospective Review of Cerebral Mycotic Aneurysms in 26 Patients: Focus on Treatment in Strongly Immunocompromised Patients with a Brief Literature Review
AJNR 34:823-827, Allen, L.M.,et al, 2013
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Mexiletine Is an Effective Antimyotonia Treatment in Myotonic Dystrophy Type 1
Neurol 74:1441-1448, Logigian,E.L., et al, 2010
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Orthopedic Outcomes of Long-Term Daily Corticosteroid Treatment in Duchenne Muscular Dystrophy
Neurol 68:1607-1613, King,W.M.,et al, 2007
Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges
Arch Neurol 64:1236-1241, Rodino-Klapac,L.R.,et al, 2007
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
Polymyositis and Dermatomyositis
Lancet 362:971-982, Dalakas,M.C.&Hohlfeld,R., 2003
Modafinil Reduces Excessive Somnolence and Enhances Mood in Patients With Myotonic Dystrophy
Neurol 59:1876-1880, MacDonald,J.E.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Reversible ALS-Like Disorder in HIV Infection
Neurol 57:995-1001,945, Moulignier,A.,et al, 2001
Antithrombotic Therapy to Prevent Stroke in Patients with Atrial Fibrillation:A Meta-Analysis
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Palliative Care in Neurology
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Is Chronic Respiratory Failure in Neuromuscular Diseases Worth Treating
JNNP 61:1-3, Shneerson,J.M., 1996
Encephalopathy in Children with Perinatally Acquired Immunodeficiency Virus Infection
J Pediatr 126:710-715, Lobato,M.N.,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
Unsuspected Varicalla-Zoster Virus Encephalitis in a Child with Acquired Immunodeficiency Syndrome
J Pediatr 123:418-422, Silliman,C.C.,et al, 1993