The Tuberous Sclerosis Complex
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Molecular Genetics in Neurology
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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Mendelian Etiologies of Stroke
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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
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
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BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Dystonia
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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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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Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Neurofibromatosis Type I in Children
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Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
JNNP 53:644-648, Boughey,A.M.,et al, 1990
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
Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
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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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CT in Ceroid Lipofuscinosis
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Inherited Multiple Meningiomas:A Clinical, Pathological & Cytogenetic Study of an Affected Family
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981
A Family Affected with Intestinal Polyposis & Gliomas
Ann Neurol 10:390-392, Todd,D.W.,et al, 1981
Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Duchenne Muscular Dystrophy
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Complex Ataxia
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Neurodegeneration with Brain Iron Accumulation
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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