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Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
A 13-Year-Old Boy With Acute-Onset Generalized Dystonia, Rostrocaudal Gradient, and Severe Bulbar Dysfunction
Neurol 107:e218569, Zhao,Y.,et al, 2026
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002