The Autosomal Recessive Cerebellar Ataxias
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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A 13-Year-Old Boy with Subacute-Onset Spastic Gait
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Homonymous Hemianopia with Normal Magnetic Resonance Imaging
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Pes Cavus and Neuropathy
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Clinical Manifestations of the anti-IgLON5 Disease
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Advances in Progressive Supranuclear Palsy: New Diagnostic Criteria, Biomarkers, and Therapeutic Approaches
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SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
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A 23-Year-Old Man With Seizures and Visual Deficit
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Early Clinical Signs and Imaging Findings in Gerstmann-Straussler-Scheinker Syndrome (Pro102Leu)
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The Hereditary Spastic Paraplegias
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Cerebral Manifestation of Erdheim-Chester Disease:Clinical and Radiologic Findings
Neurol 49:1702-1705, Bohlega,S.,et al, 1997
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Clinicopath Conf
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
HIV Encephalopathy and Dementia
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Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992