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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Neuromyelitis Optica Spectrum Disorders
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Aicardi-Gouti�res Syndrome
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Choroido-Cerebral Calcification Syndrome with Retardation
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
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Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
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A Surgical Approach To The Treatment Of Fetal Hydrocephalus
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Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
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Nerve-Growth Factor in Familial Dysautonomia
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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More Than a Little Unsteady
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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Clinical and Biomarker Changes in Dominantly Inherited Alzheimers Disease
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The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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An unusual cause of stroke and hypoxia
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Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Leukodystrophies: Classification, Diagnosis, and Treatment
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Biochemical Markers in Persons With Preclinical Familial Alzheimer Disease
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Familiality in Brain Tumors
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Neurologic Manifestations of von Hippel-Lindau Disease
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Primary Brain Tumours in Adults
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von Hippel-Lindau Disease
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Subclinical Dopaminergic Dysfunction in Asymptomatic Parkinson's Disease Patients' Relatives with a Decreased Sense of Smell
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
Ann Neurol 39:166-173, Turner,R.S.,et al, 1996
Inclusion Body Myositis and Myopathies
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