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Human Molecular Genetics|October 19, 2004
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophyAurora Pujol, Isidre Ferrer, Carme Camps, et al.Human Molecular Genetics|October 29, 2004
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy numberHenna Tyynismaa, Hiroshi Sembongi, Monika Bokori-Brown, et al.Human Molecular Genetics|October 29, 2004
Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31Naheed A Rana, Neil D Ebenezer, Andrew R Webster, et al.Human Molecular Genetics|November 26, 2004
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophyNaomi L Baker, Matthias Mörgelin, Rachel Peat, et al.Human Molecular Genetics|November 26, 2004
Strand bias in oligonucleotide-mediated dystrophin gene editingCarmen Bertoni, Glenn E Morris, Thomas A RandoHuman Molecular Genetics|January 15, 2005
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowthSyann Lee, Christine L Walker, Barbara Karten, et al.Human Molecular Genetics|January 15, 2005
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomasSandra Rebouissou, Viorel Vasiliu, Cristel Thomas, et al.Human Molecular Genetics|January 29, 2005
The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structureNoriyuki Azuma, Keiko Tadokoro, Astuko Asaka, et al.Human Molecular Genetics|January 22, 2005
Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formationAaron B Bowman, Seung-Yun Yoo, Nico P Dantuma, et al.Human Molecular Genetics|February 11, 2005
Natural antisense transcripts associated with genes involved in eye developmentGiovanna Alfano, Carmen Vitiello, Cristina Caccioppoli, et al.Pageof 1,195