Neuroimaging Changes in Menkes Disease, Part 1
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Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
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Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Single Photon Emission Computed Tomography/Positron Emission Tomography Molecular Imaging for Parkinsonism: A Fast-Developing Field
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Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020
Stridor in Multiple System Atrophy
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Atypical Parkinsonian Syndromes: A General Neurologists Perspective
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
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Orthostatic Myoclonus Associated with CASPR2 Antibodies
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A Young Man with Progressive Language Difficulty and Early-Onset Dementia
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Multiple-System Atrophy
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Criteria for the Diagnosis of Corticobasal Degeneration
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Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
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The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
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Parkinsonism in HIV-Infected Patients on Highly Active Antiretroviral Therapy
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Progressive Supranuclear Palsy: A Current Review
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Second Consensus Statement on the Diagnosis of Multiple System Atrophy
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Safety and Tolerability of Gene Therapy With an Adeno-Associated Virus (AAV) Borne GAD gene for Parkinsons Disease: An Open Label, Phase I Trial
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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A New Variant of Creutzfeldt-Jakob Disease in the UK
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Excitatory Amino Acids as a Final Common Pathway for Neurologic Disorders
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
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Neurological Clues from Environmental Neurotoxins
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Pituitary Growth Hormone from Human Cadavers:Neurologic Disease in Ten Recipients
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Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
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Clin. Path. Conference
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Brain Peptides
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
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Corticodentatonigral Degeneration with Neuronal Achromasia
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Diseases of the Basal Ganglia-Their Relation to Disorders of Movement
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