Publications by authors named "Martin Breuss"

26Publications

The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories.

Genome Biol Evol 2020 Nov;12(11):2093-2106

Department of Biology and Program in Biological and Medical Informatics, San Diego State University.

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November 2020

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Am J Hum Genet 2018 08 19;103(2):296-304. Epub 2018 Jul 19.

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA. Electronic address:

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August 2018

Tubulins and brain development - The origins of functional specification.

Mol Cell Neurosci 2017 10 27;84:58-67. Epub 2017 Mar 27.

Research Institute of Molecular Pathology, Vienna Biocenter (VBC), Dr Bohr-Gasse 7, Vienna 1030, Austria. Electronic address:

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October 2017

Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.

Behav Brain Res 2017 04 25;323:47-55. Epub 2017 Jan 25.

IMP, Research Institute of Molecular Pathology, Vienna 1030, Austria. Electronic address:

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April 2017

When size matters: CHD8 in autism.

Nat Neurosci 2016 10;19(11):1430-1432

Department of Neurosciences, Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, La Jolla, California, USA.

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October 2016

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Am J Hum Genet 2016 Jul;99(1):228-35

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA. Electronic address:

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July 2016

Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis.

Development 2016 Apr 22;143(7):1126-33. Epub 2016 Feb 22.

Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Dr. Bohr-Gasse 7, Vienna 1030, Austria

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April 2016

Microtubules and neurodevelopmental disease: the movers and the makers.

Adv Exp Med Biol 2014 ;800:75-96

Institute of Molecular Pathology, Dr. Bohr-Gasse 7, 1030, Vienna, Austria.

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April 2014