A 67-Year-Old Man with Exercise Intolerance nd Progressive Weakness
Neurol 106:e214830, Gosset,A.,et al, 2026
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Mitochondrial Myopathy Caused by Long-Term Ziduvudine Therapy
NEJM 322:1098-1105, Dalakas,M.C.,et al, 1990
Facioscapulohumeral Muscular Dystrophy, in Neuromuscular Disease
Springer-Verlag, NY, p289988., Swash,M.&Schwartz,M.S., 1988
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Reversibility of Human Myopathy Caused by Vitamin E Deficiency
Neurol 29:1182-1186, Tomasi,L.G., 1979
Creatine Phosphokinase MB Band In Oculopharyngeal Muscular Dystrophy
(Letter) NEJM 301:270979., Diskin,C.J., 1979
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968
A 69-Year-Old Woman with Ophthalmoplegia
Neurol 104:e213763, Yu, H & Frey, J, 2025
A 35-Year-Old Patient with Rapidly Progressive Ascending Weakness Leading to Loss of Brainstem Reflexes
Neurol 106:e218059, Lyons,H.J.,et al, 2026
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Immune Checkpoint Inhibitor-Related Myositis and Myocarditis in Patients with Cancer
Neurol 91:e985-e994, Touat, M.,et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1176, 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
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Clinical Reasoning: A 34-year-old man with recurrent limb weakness
Neurol 77:e68-e72, Karam, C.,et al, 2011
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
Multifocal Motor Neuropathy
JNNP 60:599-603, Nobile-Orazio,E., 1996
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Quadriceps Myopathy-Entity or Syndrome
Arch Neurol 31:60, Boddie,H.,et al, 1974
Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:527, Meadows,J.C.,et al, 1969
Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
NEJM 303:488-496, Case 22-2025, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
A 36-Year-Old Man With Asymmetric Muscle Weakness
Neurol 99"1057-1061, Harada,Y.,et al, 2022
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
"Boule Du Biceps" in Dysferlinopathy
Neurol 94:83-84, El Sherif, R.,et al, 2020
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 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 Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 2017
Statin-Associated Autoimmune Myopathy
NEJM 374:664-669, Mammen, A.L., 2016
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016