Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Pediatric Leigh Syndrome
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The Autosomal Recessive Cerebellar Ataxias
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
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 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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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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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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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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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Neurodegeneration with Brain Iron Accumulation
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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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
Neurol 84:226-230,218, Wolf, N.I.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Recessive Ataxia With Ocular Apraxia
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Hereditary Hemorrhagic Telangiectasia
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Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Giant Axonal Neuropathy:Progressive Clinical and Radiologic CNS Involvement
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Cockayne Syndrome: Review of 140 Cases
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
JNNP 53:644-648, Boughey,A.M.,et al, 1990
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
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Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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