Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
Phosphorylase Deficiency
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McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988
McArdle's Disease in the 1980s
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
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
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The Acquired Metabolic Disorders of the Nervous System, Hypothyroidism
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
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Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Glycogen-Storage Disease Type II
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Benign Acute Childhood Myositis, Laboratory and Clinical Features
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Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
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Clinical Heterogeneity of Adhalin Deficiency
Ann Neurol 39:196-202, Morandi,L.,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
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Hypoparathyroidism
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Reversibility of Human Myopathy Caused by Vitamin E Deficiency
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A 67-Year-Old Man with Exercise Intolerance nd Progressive Weakness
Neurol 106:e214830, Gosset,A.,et al, 2026
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
A 69-Year-Old Woman with Ophthalmoplegia
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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
Calf Hypertrophy and Myoedema Unravel a Diagnosis of Severe Hypothyroidism
Neurol 102:e209138, Camargos, S.,et al, 2024
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024
Neuroleptic Malignant Syndrome
NEJM 391:1130-1138, Wijdicks,E.F.M. & Ropper,A.H., 2024
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
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
Pain in Right Buttock after Carbon Monoxide Poisoning
BMJ 373:n1233, Hu, H. & Sun, Q., 2021
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
A 55-Year-Odd Man with Old Behavior and Abnormal Movements
Neurol 97:1090-1093, McIntosh, P. & Scott, B., 2021
"Boule Du Biceps" in Dysferlinopathy
Neurol 94:83-84, El Sherif, R.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
The Spectrum of Neurologic Disease in the Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic Infection
JAMA Neurol 77:679-680, Pleasure, S.J.,et al, 2020
A 10-Year-Old Girl with Muscle Stiffness
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