Causal Heterogeneity in Isolated Lissencephaly
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A 6-Year-Old Girl with Progressive Toe Walking
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Dopamine-Responsive Dystonia
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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The Hereditary Spastic Paraplegias
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Wilson Disease
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Angelman Syndrome: Clinical Profile
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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