Latest Articles

Subject

Article
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.

October 31, 2016
Clinical/Scientific Notes
Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia
Wei Wang, Yanhong Wu, Chen Wang, et al.

October 31, 2016
Article
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
D.J. Lewis-Smith, J. Duff, A. Pyle, et al.

October 31, 2016
Clinical/Scientific Notes
FHF1 (FGF12) epileptic encephalopathy
Sameer Al-Mehmadi, Miranda Splitt, For DDD Study group*, et al.

October 28, 2016
Article
SORL1 mutations in early- and late-onset Alzheimer disease
Michael L. Cuccaro, Regina M. Carney, Yalun Zhang, et al.

October 26, 2016
The Helix
Helix: October 2016 issue
Stefan M. Pulst

October 20, 2016
Article
Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions
Diana Lehmann, Malte E. Kornhuber, Carolina Clajus, et al.

October 19, 2016
Article
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
David J. Amor, Ashley P.L. Marsh, Elsdon Storey, et al.

October 18, 2016
Clinical/Scientific Notes
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation
Valeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, et al.

October 11, 2016
Article
Muscle 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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