Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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
Chiari Type I Malformation in Children
J Pediatr 115:573-576, Dure,L.S.,et al, 1989
Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
J Child Neurol 4:273-282, Merlini,L.,et al, 1989
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
Mortality and Causes of Death in Children with Cerebral Palsy with Scoliosis Treated with and without Surgery
Neurol 101:e1787-e1792, Ahonen,M.,et al, 2023
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
The Effect of Spine Fusion on Respiratory Function in Duchenne Muscular Dystrophy
Neurol 41:38-40, Miller,R.G.,et al, 1991
Diagnostic Criteria for Rett Syndrome
The Rett Syndrome Diagnostic Criteria Work Group, Ann Neurol 23:425-4281988., , 1988
Marfan Syndrome
NEJM 300:772-777, Pyeritz,R.E.,et al, 1979
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