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Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.
The Journal of Clinical Investigation|January 10, 2014
Disruption of vascular Ca2+-activated chloride currents lowers blood pressureChristoph Heinze, Anika Seniuk, Maxim V Sokolov, et al.
Clinical Genetics|February 22, 2011
First HPSE2 missense mutation in urofacial syndromeS Mahmood, C Beetz, M M Tahir, et al.
Genes|November 24, 2022
Analysis of <i>CACNA1C</i> and <i>KCNH2</i> Risk Variants on Cardiac Autonomic Function in Patients with SchizophreniaAlexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|February 17, 2022
Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophreniaAlexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, et al.
Plos Genetics|December 7, 2016
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain PerceptionDeborah Chiabrando, Marco Castori, Maja di Rocco, et al.
Plos Biology|January 27, 2022
The NKCC1 ion transporter modulates microglial phenotype and inflammatory response to brain injury in a cell-autonomous mannerKrisztina Tóth, Nikolett Lénárt, Péter Berki, et al.
Nature Genetics|July 20, 2004
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophyAndreas R Janecke, Debra A Thompson, Gerd Utermann, et al.
Cerebral Cortex (New York, N.Y. : 1991)|November 9, 2017
The DNA Methyltransferase 1 (DNMT1) Controls the Shape and Dynamics of Migrating POA-Derived Interneurons Fated for the Murine Cerebral CortexDaniel Pensold, Judit Symmank, Anne Hahn, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 5, 2006
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6Mallorie Poët, Uwe Kornak, Michaela Schweizer, et al.
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