Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:527, Meadows,J.C.,et al, 1969
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
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Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Progressive Nemaline (Rod) Myopathy Associated with HIV Infection
NEJM 317:1602-1603, Dalakas,M.C.,et al, 1987
Neuromuscular Disease in Primary Hyperparathyroidism
Ann Int Med 80:182, Patten,B.M.,et al, 1974
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
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
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
CIDP:Clinical Features & Responses to Trtm in 67 Consecutive Pts with/without a Monoclonal Gammopathy
Neurol 48:321-328, Gorson,K.G.,et al, 1997
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Human Immunodeficiency Virus-Associated Myopathy:Analysis of 11 Pts
Ann Neurol 24:79-84, Simpson,D.M.&Bender,A.N., 1988
Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
Neurol 38:573-580, Mohire,M.D.,et al, 1988
Necrotizing Myopathy Associated with Steroid Therapy, Report of Two Cases
Pathology 14:435-438, Ojeda,V.J., 1982
Five Types of Dystrophy
Together with Other Conditions Producing Insidious Muscle Weakness-Table 1-Hospital Med p. 60., , 1850
Acetylcholine Receptor-Antibody-Positive Myasthenia Gravis Presenting with Early Atrophy and Nonfluctuating Weakness of Proximal Limb Muscles
J Clin Neurol 16:714-716, Pancheri, E.,et al, 2020
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
A Case of Necrotizing Myopathy with Proximal Weakness and Cardiomayopathy
Neurol 78:1527-1532, Matthews,E.,et al, 2012
Proximal Paresis of the Upper Extremity in Patients With Stroke
Neurol 69:348-355, Hatakenaka,M.,et al, 2007
Underappreciated Statin-Induced Myopathic Weakness Causes Disability
Neurorehabil Neural Repair 19:259-263, Dobkin,B.H., 2005
Amyloid Myopathy Presenting with Distal Atrophic Weakness
Muscle Nerve 29:605-609, Smestad, C.,et al, 2004
Clinical Heterogeneity of Adhalin Deficiency
Ann Neurol 39:196-202, Morandi,L.,et al, 1996
AAEM Case Report#13:Diabetic Amyotrophy
Muscle & Nerve 19:939-945996., Chokroverty,S.&Sander,H.W., 1996
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
Muscle & Nerve 18:782-783995., Stoll,G.,et al, 1995
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Dystrophinopathy in Isolated Cases of Myopathy in Females
Neurol 42:967-975, Hoffman,E.P.,et al, 1992
Pravastatin-Associated Inflammatory Myopathy
NEJM 327:649-650, Schalke,B.B.,et al, 1992
McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992
The Effects of Alcoholism on Skeletal and Cardiac Muscle
NEJM 320:409-415, 458-4601989., Urbano-Marquez,A.,et al, 1989
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989
Neuromuscular Involvement in Mild, Asymptomatic Primary Hyperparathyroidism
Am J Med 87:553-557, Turken,S.A., 1989
Tick-Bite Meningoradiculoneuritis:Clinical, Electrophysiologic, & Histolic Findings in 10 Cases
Neurol 37:749-753, Vallat,J.M.,et al, 1987
Spectrum of Inclusion Body Myositis
Arch Neurol 44:1154-1157, Ringel,S.P.,et al, 1987