A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
"Disappearing Infarct" Is Late-Onset MELAS
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Degenerative Diseases of the Nervous System, Alzheimer Disease
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Sturge-Weber Syndrome
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Metabolic Disease and Stroke: MELAS
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Dystonia
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Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Tourette's Syndrome:A Model Neuropsychiatric Disorder
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
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Transient Tic Disorder and the Spectrum of Tourette's Syndrome
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Clinical Syndromes of Myasthenia in Infancy & Childhood
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Pediatric Leigh Syndrome
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Clinical Reasoning: A Teenager with Left Arm Weakness
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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