Clinicopathologic Conference, Cushings syndrome due to a well-differentiated, low-grade thymic neuroendocrine tumor with corticotropin
NEJM 378:2322-2332, Case 18-2018, 2018
Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977
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
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
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Tick-Bite Meningoradiculoneuritis:Clinical, Electrophysiologic, & Histolic Findings in 10 Cases
Neurol 37:749-753, Vallat,J.M.,et al, 1987
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Amyloid Myopathy Presenting with Distal Atrophic Weakness
Muscle Nerve 29:605-609, Smestad, C.,et al, 2004
Paraneoplastic Necrotizing Myopathy, Clinical and Pathologic Features
Neurol 50:764-767, Levin,M.I.,et al, 1998
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989
Case Records of the MassGeneral Hospital, Case 41-1975, Acute Intermittent Porphyria
NEJM 293:817, Woods,B., 1975
Neuromuscular Disease in Primary Hyperparathyroidism
Ann Int Med 80:182, Patten,B.M.,et al, 1974
Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:527, Meadows,J.C.,et al, 1969
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Dysphagia and a rash
BMJ 361:k1590, McFarlane, M. & Disney, B., 2018
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
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Inflammatory Muscle Diseases
NEJM 372:1734-1747, Dalakas, M.C., 2015
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, 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
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Inflammatory Myopathies with Anti-Ku Antibodies
Medicine 91:95-102, Rigolet,A.,et al, 2012
A Case of Necrotizing Myopathy with Proximal Weakness and Cardiomayopathy
Neurol 78:1527-1532, Matthews,E.,et al, 2012
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
Underappreciated Statin-Induced Myopathic Weakness Causes Disability
Neurorehabil Neural Repair 19:259-263, Dobkin,B.H., 2005
Clinicopath Conf., Colchicine Myoneuropathy
NEJM 349:1656-1663, Case 33-2003, 2003
Chloroquine Myopathy and Neuropathy with Elevated CSF Protein
Neurol 51:1226-1227, Wasay,M.,et al, 1998
Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997
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
Steroid Myopathy in Cancer Patients
Neurol 48:1234-1238, Batchelor,T.T.,et al, 1997
Clinical Heterogeneity of Adhalin Deficiency
Ann Neurol 39:196-202, Morandi,L.,et al, 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
Myositis:Immunologic Contributions to Understanding Cause, Pathogenesis, and Therapy
Ann Int Med 122:715-724, Plotz,P.H.,et al, 1995
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Further Reg Var of Acute Polyneuro:Bifacial or 6th Nerve Paresis, Lumbar Polyrad & Ataxia/Phary Cervical-Brachial Wkness
Arch Neurol 51:671-675, Ropper,A.H., 1994
Osteomalacic Myopathy
Muscle & Nerve 17:578-580994., Russell,J.A., 1994
Clinicopath Conf
Small Cell CA (of lung) with Lambert-Eaton Myasthenic Syndr, Case 32-1994, NEJM 331:528-5354., , 1994
Sudden Onset of Profound Weakness in a Toddler
J Pediatr 122:663-667, Carraccio,C.,et al, 1993