The Phenotypic Continuum of ATP1A3-Related Disorders
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Neurological Management of Von Hippel-Lindau Disease
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Dominant Juvenile Optic Atrophy
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The Spectrum of Fragile X Disorders
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Muscular Dystrophies
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Wilson Disease
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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A 10-year-old boy with Bilateral Vision Loss
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Hydrocephalus in Children
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Autism
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Red Papules on the Tongue of a Patient with Hemiparesis
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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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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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Neurofibromatosis Type 2
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Overview of Phenylketonuria
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006
The Tuberous Sclerosis Complex
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
Medicine 84:129-136, Lok,C.,et al, 2005
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004