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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Mendelian Etiologies of Stroke
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Neonatal Seizures
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Neurological Management of Von Hippel-Lindau Disease
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Molybdenum Cofactor Deficiency
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Aicardi-Gouti�res Syndrome
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Dystonia
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Adrenoleukodystrophy
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Niemann-Pick Disease Type C: Two Cases and an Update
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Cerebrovascular Complications of Fabry's Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Familial Cerebral Cavernous Angiomas:Clinical and Radiologic Studies
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
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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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 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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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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