Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,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
Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
Ann Neurol 25:514-516, Gospe,S.M.&Choy,M., 1989
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
The Malignant Hyperthermia Syndrome
NEJM 309:416-418, Nelson,T.E.,et al, 1983
Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983
Emery-Dreifuss Muscular Dystrophy
Ann Neurol 5:111-117, Rowland,L.P.,et al, 1979
Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
Arch Neurol 35:189, Eng,G.D.,et al, 1978
Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978
Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
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
Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
et al NEJM 293:1017, Waters,D.D., 1975
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972