Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Complex Ataxia
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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An Unusual Fundus Finding in a Teenage Girl
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Recessive Ataxia With Ocular Apraxia
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Isolated Vitamin E Deficiency
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Mitochondrial DNA and Disease
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Refsum Disease
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Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983
Myeloneuropathy & Macrocytosis Associated with Nitrous Oxide Abuse
Arch Neurol 40:416-418, Bianco,G.,et al, 1983
Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Neurol 29:880-881, Kuritzky,A.,et al, 1979
Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976
Neurotoxicity of Commonly Used Antineoplastic Agents
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Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
Miller Fisher Syndrome and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Variant Guillain-Barre Overlap Syndrome (MFS/AMSAN-GBS) After Upper Respiratory Tract Infection (URTI)
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A 57-Year-Old Woman with Progressive Ataxia and Falls
Neurol 95:650-656, Badahdah, A., 2020
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Cranial Nerve Hypertrophy in IgG4 Anti-Neurofascin 155 Antibody-Positive Polyneuropathy
Neurol 88:e52, Franques, J.,et al, 2017
Reversible Gait Ataxia
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A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
Glial Fibrillary Acidic Protein Immunoglobulin G as Biomarker of Autoimmune Astrocytopathy: Analysis of 102 Patients
Ann Neurol 81:298-309, Flanagan, E.P.,et al, 2017
Extraintestinal Manifestations of Coeliac Disease
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Copper Deficiency
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Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
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Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Lead
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Degenerative Diseases of the Nervous System, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Sjogrens syndrome with dorsal-root ganglionitis
NEJM 364:1856-1865, Case 14-2011, 2011
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Ataxic vs Painful Form of Paraneoplastic Neuropathy
Neurol 69:564-572, Oki,Y.,et al, 2007
The Neurological Complications of Bariatric Surgery
Arch Neurol 61:1185-1189, Berger,J.R., 2004
Spectrum of Paraneoplastic Neurologic Disorders in Women with Breast and Gynecologic Cancer
Medicine 82:216-223, Rojas-Marcos,I.,et al, 2003