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Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Posterior Fossa Ring-Enhancing Lesions in the Adult Immunocompetent Host: Illustrative Cases, Systematic Review, and proposed Diagnostic Algorithm
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Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
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Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
Alzheimers Disease
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A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
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Contemporary Reversal of Oral Anticoagulation in Intracerebral Hemorrhage
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Acute Encephalitis in Immunocompetent Adults
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Review of the Neurological Implications of von Hippel-Lindau Disease
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A Fatal Case of Undiagnosed Candida Meningitis-Role of Computer-assisted Diagnosis
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Neuroimaging Changes in Menkes Disease, Part 1
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Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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A 27-Year Old Man with Rapidly Progressive Coma
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Griscelli Syndrome and CNS Lymphohistiocytosis
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Mystery Case: A Young Boy with Myoclonic Jerks
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
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Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Diagnosis and Management of the Antiphospholipid Syndrome
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Pulmonary AVMs, including hereditary hemorrhagic telangiectasia: Diagnosis and Treatment
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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Neurofibromatosis Type 2
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
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Epilepsy Surgery for Pharmacoresistant Temporal Lobe Epilepsy: A Decision Analysis
JAMA 300:2497-2505,2548, Choi,H.,et al, 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Aneurysmal Subarachnoid Hemorrhage
NEJM 354:387-396, Suarez,J.I.,et al, 2006
Delirium in Older Persons
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Glycogen-Storage Disease Type II
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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von Hippel-Lindau Disease
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Autosomal Dominant Acute Necrotizing Encephalopathy
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Learning Disability
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Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
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Hypertrophic Cardiomyopathy A Systematic Review
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Spontaneous Intracerebral Hemorrhage
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Status Epilepticus
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