Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
Neurol 97:e577-e586, Accogli, A.,et al, 2021
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
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
Lancet 381:125-132, Franz, D.,et al, 2013
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Neurologic Manifestations of von Hippel-Lindau Disease
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Angelman Syndrome Revisited
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Dystonia
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The Tuberous Sclerosis Complex
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Epilepsy Syndromes in Infancy
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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von Hippel-Lindau Disease
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Prader-Willi and Angelman Syndromes
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Inclusion Body Myositis and Myopathies
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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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Aicardi's Syndrome:MR Appearance of Unusual Orbital and Ventricular Cystic Lesions
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Molecular Genetics in Neurology
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Hypomelanosis of Ito
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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
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Angelman Syndrome: Clinical Profile
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Neurofibromatosis Type I in Children
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
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Hematologic Disorders and Ischemic Stroke
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Familial Creutzfeldt-Jakob Disease without Periodic EEG Activity
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Occurrence of Both Neurofibromatosis 1 and 2 in the Same Individual with a Rapidly Progressive Course
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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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Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
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Neurologic Complications in Long-Standing Nephropathic Cystinosis
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Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
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Paroxysmal Cerebellar Ataxia
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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