Adult-Onset Spinocerebellar Syndrome with Idiopathic Vitamin E Deficiency
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Neurological Manifestations in Xeroderma Pigmentosum
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Acid Maltase Deficiency
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Gerstmann-Straussler-Scheinker Disease with Coincidental Familial Onset
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Clinicopathological Conference
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Biochemical Genetics Of Neurologic Disease
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Dominant Spinopontine Atrophy
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Familial Degeneration of the Basal Ganglia with Acanthocytosis:a Clinical Neuropathological, & Neurochemical Study
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Azorean Disease of the Nervous System
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Cervical Myelographic Changes in Hypertrophic Interstitial Polyneuropathy
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Nerve-Growth Factor in Familial Dysautonomia
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Charcot-Marie-Tooth Disease Associated With"Essential Tremor"
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Neurotoxicity of Commonly Used Antineoplastic Agents
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Infantile Metachromatic Leukodystrophy
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Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Genetic Counseling in Retinitis Pigmentosa
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Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
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Morquio's Disease, A Radiologic & Morphologic Study
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 19-Year-Old Woman with Progressive Weakness and Numbness in Her Arms and Legs
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A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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RNF213 Polymorphisms in Intracranial Artery Dissection
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Safety and Efficacy of Staged, Bilateral Focused Ultrasound Thalamotomy in Essential Tremor, An Open-Label Clinical Trial
JAMA Neurol 81:939-946, Kaplitt,M.G.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Vascular Malformations of the Central Nervous System
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Intracranial Hypertension Associated with Poly-Cranio-Radicular-Neuropathies A Case Report and Review of the Literature
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024