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Human Molecular Genetics|April 19, 2013
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)Olena Korvatska, Nicholas S Strand, Jason D Berndt, et al.
Human Molecular Genetics|April 19, 2013
Glucocorticoid receptor is required for foetal heart maturationEva A Rog-Zielinska, Adrian Thomson, Christopher J Kenyon, et al.
Human Molecular Genetics|April 23, 2013
Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophyJ López-Erauskin, J Galino, M Ruiz, et al.
Human Molecular Genetics|May 15, 2013
Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomataJiwoon Lee, Bum-Kyu Lee, Jeffrey M Gross
Human Molecular Genetics|May 15, 2013
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life courseMariaelisa Graff, Julius S Ngwa, Tsegaselassie Workalemahu, et al.
Human Molecular Genetics|May 16, 2013
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB typeAna Jorge-Finnigan, Sandra Brasil, Jarl Underhaug, et al.
Human Molecular Genetics|June 18, 2013
A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditureWeston T Powell, Rochelle L Coulson, Florence K Crary, et al.
Human Molecular Genetics|June 18, 2013
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neuronsLeonardo Aliaga, Chen Lai, Jia Yu, et al.
Human Molecular Genetics|May 1, 2013
A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1Ivelisse Sánchez, Patricia Piñol, Marc Corral-Juan, et al.
Human Molecular Genetics|April 9, 2013
Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processingJulie Nonnekens, Jorge Perez-Fernandez, Arjan F Theil, et al.
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