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Clinicopathological Conference
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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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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Spinal Muscular Atrophy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A Neonate with Micrognathia and Hypotonia
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Molybdenum Cofactor Deficiency
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Sturge-Weber Syndrome
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Angelman Syndrome: Clinical Profile
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Cockayne Syndrome: Review of 140 Cases
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Tangier Disease in a Black Patient:An Unusual Clinical Presentation
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Hereditary Sensory Neuropathy with Deafness:A Familial Multisystem Atrophy
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Refsum Disease
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Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Retinitis Pigmentosa
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Ocular Complications of Tangier Disease
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The Cerebrohepatorenal (Zellweger) Syndrome
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Nerve-Growth Factor in Familial Dysautonomia
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Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Genome Sequencing in the NICU and PICU is Here to Stay
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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