Publications by authors named "Markus Storbeck"

15Publications

Report of a novel ATP7A mutation causing distal motor neuropathy.

Neuromuscul Disord 2019 10 23;29(10):776-785. Epub 2019 Aug 23.

Department of Medical Sciences, Section of Medical Genetics, University of Ferrara - Unit of Medical Genetics - University Hospital, Via Fossato di Mortara, 74, 44121 Ferrara, Italy. Electronic address:

View Article and Find Full Text PDF
October 2019

PRUNE1: a disease-causing gene for secondary microcephaly.

Brain 2017 10;140(10):e61

Institute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

View Article and Find Full Text PDF
October 2017

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Am J Hum Genet 2016 Nov 27;99(5):1206-1216. Epub 2016 Oct 27.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address:

View Article and Find Full Text PDF
November 2016

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.

Neurology 2016 Nov 26;87(21):2235-2243. Epub 2016 Oct 26.

From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.

View Article and Find Full Text PDF
November 2016

Neuronal-specific deficiency of the splicing factor Tra2b causes apoptosis in neurogenic areas of the developing mouse brain.

PLoS One 2014 19;9(2):e89020. Epub 2014 Feb 19.

Institute of Human Genetics, University of Cologne, Cologne, Germany ; Institute of Genetics, University of Cologne, Cologne, Germany ; Center for Molecular Medicine, University of Cologne, Cologne, Germany.

View Article and Find Full Text PDF
January 2015