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The EMBO Journal|November 14, 2009
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6Fabienne C Fiesel, Aaron Voigt, Stephanie S Weber, et al.
Annals of Neurology|December 11, 2007
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegiaUte Hehr, Peter Bauer, Beate Winner, et al.
Human Mutation|September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsDenise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.
Molecular Vision|March 25, 2015
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani originZeinab Ravesh, Mohammed E El Asrag, Nicole Weisschuh, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 29, 2018
Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibitionFlorian A Siebzehnrübl, Kerstin A Raber, Yvonne K Urbach, et al.
BMC Genomics|January 8, 2010
The dynamic architecture of the metabolic switch in Streptomyces coelicolorKay Nieselt, Florian Battke, Alexander Herbig, et al.
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