A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Pediatric Leigh Syndrome
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Hereditary Hemorrhagic Telangiectasia
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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Clinicopathological Conference
Paget's Disease of Bone, Giant-Cell Reparative Granuloma, Case 1-1986, NEJM 314:105-11386., , 1986
Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Clinicopathological Conference
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Periodic Meningitis & Familial Mediterranean Fever
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Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982
Hereditary-Multiple Exostoses With Myelopathy
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
Ann Neurol 4:130-144, Roman,G.,et al, 1978
Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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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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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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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
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Muscular Dystrophies
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Hydrocephalus in Children
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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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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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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, Infantile Niemann-Pick Disease
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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