Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Cervical Dystonia:Clinical Findings and Associated Movement Disorders
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Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
J Child Neurol 4:273-282, Merlini,L.,et al, 1989
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
The Aicardi Syndrome:Report of 4 Cases & Review of the Literature
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
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
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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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
Erroneous Diagnosis Corrected After 28 Years
Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996
Scoliosis:Spinal Cord Monitoring During Surgery
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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
Torticollis in Three Children with Syringomyelia & Spinal Cord Tumor
Neurol 33:956-958, Kiwak,K.J.,et al, 1983
Tethered Cord Syndrome in Adults
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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
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