GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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