Latest Articles
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- Clinical/Scientific NotesA novel WDR45 mutation in a patient with β-propeller protein-associated neurodegenerationDonRaphael P. Wynn, Stefan M. PulstDecember 05, 2016
- ArticleClinical and genetic study of hereditary spastic paraplegia in CanadaNicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, et al.December 05, 2016
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- Clinical/Scientific NotesPhenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.November 17, 2016
- Clinical/Scientific NotesMitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimicAnne-Katrin Pröbstel, André Schaller, Johanna Lieb, et al.November 17, 2016
- ArticleDe novo FGF12 mutation in 2 patients with neonatal-onset epilepsyIlaria Guella, Linda Huh, Marna B. McKenzie, et al.November 10, 2016
- ArticleNovel HSPB1 mutation causes both motor neuronopathy and distal myopathyD.J. Lewis-Smith, J. Duff, A. Pyle, et al.October 31, 2016
- ArticleGermline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsyRikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.October 31, 2016
- Clinical/Scientific NotesCopy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myastheniaWei Wang, Yanhong Wu, Chen Wang, et al.October 31, 2016
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