Latest Articles
- 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
- ArticleNovel HSPB1 mutation causes both motor neuronopathy and distal myopathyD.J. Lewis-Smith, J. Duff, A. Pyle, et al.October 31, 2016
- Clinical/Scientific NotesFHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, For DDD Study group*, et al.October 28, 2016
- ArticleSORL1 mutations in early- and late-onset Alzheimer diseaseMichael L. Cuccaro, Regina M. Carney, Yalun Zhang, et al.October 26, 2016
- ArticlePeripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletionsDiana Lehmann, Malte E. Kornhuber, Carolina Clajus, et al.October 19, 2016
- ArticleHeterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiencyDavid J. Amor, Ashley P.L. Marsh, Elsdon Storey, et al.October 18, 2016
- Clinical/Scientific NotesEpidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutationValeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, et al.October 11, 2016
- ArticleMuscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)S.T. Oestergaard, T. Stojkovic, J.R. Dahlqvist, et al.October 11, 2016
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Dr. Daniel Friedman and Dr. Sharon Chiang