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Human Molecular Genetics|February 28, 2012
Abnormal interaction between the mitochondrial fission protein Drp1 and hyperphosphorylated tau in Alzheimer's disease neurons: implications for mitochondrial dysfunction and neuronal damageMaria Manczak, P Hemachandra ReddyHuman Molecular Genetics|March 27, 2012
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia modelBarbara Tomassini, Gaetano Arcuri, Silvia Fortuni, et al.Human Molecular Genetics|March 28, 2012
Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6A Joseph Bloom, Oscar Harari, Maribel Martinez, et al.Human Molecular Genetics|March 6, 2012
Regulation of parkin and PINK1 by neddylationYeun Su Choo, Georg Vogler, Danling Wang, et al.Human Molecular Genetics|March 6, 2012
Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with ageFrank Matthes, Stijn Stroobants, Debora Gerlach, et al.Human Molecular Genetics|May 22, 2012
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiencyNanna Cornelius, Frank E Frerman, Thomas J Corydon, et al.Human Molecular Genetics|June 9, 2012
The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in developmentKim R Simpfendorfer, Lina M Olsson, Nataly Manjarrez Orduño, et al.Human Molecular Genetics|June 9, 2012
Retrocochlear function of the peripheral deafness gene Cacna1dSomisetty V Satheesh, Katrin Kunert, Lukas Rüttiger, et al.Human Molecular Genetics|June 9, 2012
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafnessSedigheh Delmaghani, Asadollah Aghaie, Nicolas Michalski, et al.Human Molecular Genetics|May 1, 2012
Regulatory variation in a TBX5 enhancer leads to isolated congenital heart diseaseScott Smemo, Luciene C Campos, Ivan P Moskowitz, et al.Pageof 1,195