X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Niemann-Pick Type C Disease
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Niemann-Pick Disease Type C from Bench to Bedside
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Diagnosis of Treatable Wilson's Disease
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Inflammatory Myopathies
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A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
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A 69-Year-Old Woman with Ophthalmoplegia
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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Clinicopathological Conference, Powasan Virus Encephalitis
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Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
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Progressive Cervical Osteophytosis and Dysphagia Associated with Isotretinoin Treatment for Rosacea
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Clinicopathologic Conference, Myasthenia Gravis
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Progressive Camptocormia with Head Drop and Dysphagia
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Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
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Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
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Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Progressive Neurological Impairment and an Enhancing Brainstem Lesion in a Middle-Aged Man
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Toxidrome Recognition in Chemical - Weapons Attacks
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Wilson Disease
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A 58-year-old man with Progressive Ptosis and Walking Difficulty
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A 64-year-old Man with Progressive Paraspinal Muscle Weakness
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Advanced Dementia
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A 73-year-old Man with Diplopia and Ataxia
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Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
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Mystery Case: A 63-year-old Man with Progressive Proximal Pain and Weakness
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Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Botulism
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Rabies
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
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Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Clinicopathologic Conference, Rabies Encephalitis
NEJM 368:172-180, Case 1-2013, 2013
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
Inflammatory Myopathies with Anti-Ku Antibodies
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