Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Niemann-Pick Type C Disease
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Congenital Ocular Motor Apraxia
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Clinical Reasoning: A Teenager with Left Arm Weakness
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
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A Neonate with Micrognathia and Hypotonia
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Mitochondrial DNA Polymerase-y and Human Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Niemann-Pick Disease Type C: Two Cases and an Update
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Myotonic Dystrophy
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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Hyperostosis Cranialis Interna
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Familial Recurrent Bell's Palsy with Ocular Motor Palsies
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Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982
Progressive Pontobulbar Palsy With Deafness
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Familial Spastic Paraplg, Peroneal Neuropathy, & Crural Hypopig, A New Neurocut Synd
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Familial Recurrent Peripheral Facial Palsy
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Progressive Supranuclear Palsy & Hyperkalemic Periodic Paralysis
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Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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Azorean Disease of the Nervous System
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Juvenile Diabetes Mellitus & Optic Atrophy
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Ocular Myopathy
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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