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2022
Delle Vedove, Andrea, Natarajan, Janani, Zanni, Ginevra, Eckenweiler, Matthias, Muinos-Buehl, Anixa, Storbeck, Markus, Boixet, Jordina Guillen, Barresi, Sabina, Pizzi, Simone, Hoelker, Irmgard, Koerber, Friederike, Franzmann, Titus M., Bertini, Enrico S., Kirschner, Janbernd 
ORCID: 0000-0003-1618-7386, Alberti, Simon, Tartaglia, Marco and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2022).
CAPRIN1(P512L) causes aberrant protein aggregation and associates with early-onset ataxia.
Cell. Mol. Life Sci., 79 (10).
BASEL:
SPRINGER BASEL AG.
ISSN 1420-9071
2019
Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita ORCID: 0000-0002-3099-0100, Neri, Marcella, Incensi, Alex ORCID: 0000-0003-2163-5403, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano ORCID: 0000-0001-6538-5923, Timmerman, Vincent, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Donadio, Vincenzo, Tugnoli, Valeria and Ferlini, Alessandra
(2019).
Report of a novel ATP7A mutation causing distal motor neuropathy.
Neuromusc. Disord., 29 (10).
S. 776 - 786.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
2018
Carrera, Lilian A. Martinez, Gabriel, Elke, Donohoe, Colin D., Hoelker, Irmgard, Mariappan, Aruljothi, Storbeck, Markus, Uhlirova, Mirka ORCID: 0000-0002-5735-8287, Gopalakrishnan, Jay and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2018).
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Hum. Mol. Genet., 27 (10).
S. 1772 - 1785.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2018).
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum. Mutat., 39 (9).
S. 1284 - 1299.
HOBOKEN:
WILEY.
ISSN 1098-1004
2017
Karakaya, Mert, Yilmaz, Sanem, Storbeck, Markus, Hoelker, Irmgard, Heller, Raoul, Serdaroglu, Gul, Gokben, Sarenur, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2017).
PRUNE1: a disease-causing gene for secondary microcephaly.
Brain, 140.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Salpietro, Vincenzo ORCID: 0000-0003-0132-7921, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun ORCID: 0000-0003-2063-7132, Efthymiou, Stephanie, Manole, Andreea ORCID: 0000-0002-9397-8248, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel-Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Houlden, Henry
(2017).
Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome.
Ann. Neurol., 81 (4).
S. 597 - 604.
HOBOKEN:
WILEY.
ISSN 1531-8249
Storbeck, Markus, Eriksen, Beate Horsberg, Unger, Andreas, Hoelker, Irmgard, Aukrust, Ingvild, Martinez-Carrera, Lilian A., Linke, Wolfgang A., Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2017).
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Eur. J. Hum. Genet., 25 (9).
S. 1040 - 1049.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
2016
Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hoelker, Irmgard, Hebbar, Malavika, Shulda, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O'Driscoll, Mary, Loeys, Bart ORCID: 0000-0003-3703-9518 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2016).
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am. J. Hum. Genet., 99 (5).
S. 1206 - 1217.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Heesen, Ludwig, Peitz, Michael, Torres-Benito, Laura, Hoelker, Irmgard, Hupperich, Kristina, Dobrindt, Kristina, Jungverdorben, Johannes, Ritzenhofen, Swetlana, Weykopf, Beatrice, Eckert, Daniela, Hosseini-Barkooie, Seyyed Mohsen, Storbeck, Markus, Fusaki, Noemi, Lonigro, Renata, Heller, Raoul, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Bruestle, Oliver and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2016).
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Cell. Mol. Life Sci., 73 (10).
S. 2089 - 2105.
BASEL:
SPRINGER BASEL AG.
ISSN 1420-9071
Unger, Andreas, Dekomien, Gabriele, Guettsches, Anne, Dreps, Thomas, Kley, Rudolf, Tegenthoff, Martin, Ferbert, Andreas, Weis, Joachim, Heyer, Christoph, Linke, Wolfgang A., Martinez-Carrera, Lilian, Storbeck, Markus, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Hoffjan, Sabine and Vorgerd, Matthias
(2016).
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Neurology, 87 (21).
S. 2235 - 2244.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X
2014
Storbeck, Markus, Hupperich, Kristina, Gaspar, John Antonydas, Meganathan, Kesavan, Carrera, Lilian Martinez, Wirth, Radu, Sachinidis, Agapios and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2014).
Neuronal-Specific Deficiency of the Splicing Factor Tra2b Causes Apoptosis in Neurogenic Areas of the Developing Mouse Brain.
PLoS One, 9 (2).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
2013
Storbeck, Markus
(2013).
Characterization of Neuronal-Specific Tra2b Knock-Out Mice and
Identification of Tra2b Splicing Targets.
PhD thesis, Uniklinik Köln, Institut für Humangenetik.
2011
Grellscheid, Sushma, Dalgliesh, Caroline, Storbeck, Markus, Best, Andrew, Liu, Yilei, Jakubik, Miriam, Mende, Ylva, Ehrmann, Ingrid, Curk, Tomaz ORCID: 0000-0003-4888-7256, Rossbach, Kristina, Bourgeois, Cyril F., Stevenin, James, Grellscheid, David, Jackson, Michael S., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Elliott, David J.
(2011).
Identification of Evolutionarily Conserved Exons as Regulated Targets for the Splicing Activator Tra2 beta in Development.
PLoS Genet., 7 (12).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404