Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Marfan Syndrome
NEJM 300:772-777, Pyeritz,R.E.,et al, 1979
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Erroneous Diagnosis Corrected After 28 Years
Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Diagnostic Criteria for Rett Syndrome
The Rett Syndrome Diagnostic Criteria Work Group, Ann Neurol 23:425-4281988., , 1988
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Practical Problems in the Respiratory Care of Patients with Muscular Dystrophy
NEJM 316:1197-1205, Smith,P.E.M.,et al, 1987
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Syringomyelia
In Merritt's Textbook of Neurology, Ed, Rowland, L. P. , 7th Ed, Lea & Febiger, Phila, 552-556, Mancall,E.L., 1984
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972