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 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, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Orofacial Dyskinesia in a Young Man
JAMA Neurol 76:1517-1518, Tian, X.,et al, 2019
A 30-year-old Man with Progressive Weakness and Atrophy
Neurol 87:e227-e230, Quinn, C.,et al, 2016
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,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
A Case of Necrotizing Myopathy with Proximal Weakness and Cardiomayopathy
Neurol 78:1527-1532, Matthews,E.,et al, 2012
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
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Multifocal Motor Neuropathy
JNNP 60:599-603, Nobile-Orazio,E., 1996
Critical Illness Neuromuscular Disease in Children Manifested as Ventilatory Dependence
J Pediatr 126:259-261, Sheth,R.D.,et al, 1995
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
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Cerebral Involvement in McLeod Syndrome
Neurol 44:117-120, Danek,A.,et al, 1994
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Autosomal Recessive Distal Dystrophy
Neurol 41:1365-1370, Barohn,R.J.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Clinicopath Conf
Case 40-1991, Inclusion-Body Myositis, NEJM 325:1026-1035991., , 1991
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989
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
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Facioscapulohumeral Muscular Dystrophy, in Neuromuscular Disease
Springer-Verlag, NY, p289988., Swash,M.&Schwartz,M.S., 1988
Spectrum of Inclusion Body Myositis
Arch Neurol 44:1154-1157, Ringel,S.P.,et al, 1987
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Quadriceps Myopathy in Two Brothers
Rhode Island Med J 62:125, Finelli,P.F., 1979
Adult Onset Nemaline Myopathy
Neurol 28:1306-1309, Brownell,A.K.W.,et al, 1978
Quadriceps Myopathy-Entity or Syndrome
Arch Neurol 31:60, Boddie,H.,et al, 1974
Hereditary Quadriceps Myopathy
JNNP 36:1041, Espir,M.L.E.,et al, 1973
Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:527, Meadows,J.C.,et al, 1969
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968
Myopathy of the Quadriceps Muscles
J Neurol Sci 7:201, VanWijngaarden,G.K.,et al, 1968
Calf Hypertrophy and Myoedema Unravel a Diagnosis of Severe Hypothyroidism
Neurol 102:e209138, Camargos, S.,et al, 2024
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
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
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020