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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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The Nondystrophic Myotonias
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Detecting Susceptibility to Malignant Hyperthermia
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Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988
Central Core Disease, Clinical Features in 13 Patients
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The Malignant Hyperthermia Syndrome
NEJM 309:416-418, Nelson,T.E.,et al, 1983
Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
Arch Neurol 35:189, Eng,G.D.,et al, 1978
Pathology of Malignant Hyperpyrexia
BMJ Editorial 249, 1973, Feb., , 1973
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Neurological Management of Von Hippel-Lindau Disease
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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The Tuberous Sclerosis Complex
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003
Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
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Familial Temporal Lobe Epilepsy with Febrile Seizures
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Cerebrovascular Complications of Fabry's Disease
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Molecular Genetics in Neurology
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Familial Alzheimer's Disease:Second Gene Locus Located, Markers for Familial Disease May be Available
BMJ 305:1108-1109, Mullan,M., 1992
Central Nervous System Involvement in Von Hippel-Lindau Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurofibromatosis Type I in Children
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Hematologic Disorders and Ischemic Stroke
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Chediak-Higashi Syndrome
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Periodic Meningitis & Familial Mediterranean Fever
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