A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
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Niemann-Pick Type C Disease
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
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Man with Recurrent Paralysis and Cerebral White Matter Lesions
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Recurrent Stroke as a Manifestation of Primary Angiitis of the Central Nervous System in a Patient Infected With Human Immunodeficiency Virus
Arch Neurol 59:468-473, Nogueras,C.,et al, 2002
Inclusion Body Myositis
JNNP 60:251-255, Garlepp,M.J.&Mastaglia,F.L., 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Azorean Disease of the Nervous System
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