Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
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
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992
Aseptic Meningitis Complicating Adult Kawasaki Disease:Case Report and Review of the Literature
Am J Med 87:106-110, McIlroy,M.A.,et al, 1989
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
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Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Infective Endocarditis
Lancet 387:882-893, Cahill, T.J. & Prendergast, B.D., 2016
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Oral Fingolimod or Intramuscular Interferon for Relapsing Multiple Sclerosis
NEJM 362:402-415, 456, Cohen,J.A.,et al, 2010
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy
Arch Neurol 65:1196-1201, Sveen,M.-L.,et al., 2008
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Muscle Pain after Exercise
Lancet 353:1062, Nielen,C.&Mazzone,P., 1999
An Emotional 13-Year Old Girl
Lancet 348:1000, Kanabar,D.J.,et al, 1996
The Neurological Complciations of Sepsis
Ann Neurol 33:94-100, Bolton,C.F.,et al, 1993
Sudden Onset of Profound Weakness in a Toddler
J Pediatr 122:663-667, Carraccio,C.,et al, 1993
Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
Ann Neurol 25:514-516, Gospe,S.M.&Choy,M., 1989
Improved Diagnosis of Becker Muscular Dystrophy by Dystrophin Testing
Neurol 39:1011-1017, Hoffman,E.P.,et al, 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Clinicopath Conf
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Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Emery-Dreifuss Muscular Dystrophy
Ann Neurol 5:111-117, Rowland,L.P.,et al, 1979
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979
Neurologic Abnormalities of Lyme Disease
Medicine 58:281-294, Reik,L.,et al, 1979
Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978
Clofibrate-Induced Muscle Damage with Myoglobinuria & Cardiomyopathy
NEJM 296:942, Smals,A.G.H., 1977
An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
JNNP 40:1102, Selby,P.J.,et al, 1977