Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
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
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
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977
Rigid Spine Syndrome:A Type I Fiber Myopathy
Arch Neurol 34:119, Seay,A.R.,et al, 1977
The Diagnosis & Natural History of Spinal Cord Arteriovenous Malformations
Mayo Clin Proc 51:637, Tobin,W.D.,et al, 1976