Universität zu Köln

Journal Article

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

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

Eisenberger, Tobias, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nuernberg, Gudrun, Toliat, Mohammad, Nuernberg, Peter, Muerbe, Dirk and Bolz, Hanno Joern (2018). A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. Genet. Med., 20 (6). S. 614 - 622. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Janzen, Eva, Wolff, Lisa, Mendoza-Ferreira, Natalia, Hupperich, Kristina, Delle Vedove, Andrea, Hosseinibarkooie, Seyyedmohsen, Kye, Min Jeong and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice. Front. Neurosci., 13. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-453X

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

Overhoff, Melina ORCID: 0000-0002-4208-8632, Tellkamp, Frederik ORCID: 0000-0002-0473-7320, Hess, Simon ORCID: 0000-0001-6085-5156, Tolve, Marianna ORCID: 0000-0002-0893-2967, Tutas, Janine, Faerfers, Marcel, Ickert, Lotte, Mohammadi, Milad ORCID: 0000-0003-1755-108X, De Bruyckere, Elodie, Kallergi, Emmanouela, Delle Vedove, Andrea, Nikoletopoulou, Vassiliki, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Isensee, Joerg, Hucho, Tim ORCID: 0000-0002-4147-9308, Puchkov, Dmytro, Isbrandt, Dirk ORCID: 0000-0002-4720-1016, Krueger, Marcus, Kloppenburg, Peter and Kononenko, Natalia L. (2022). Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse. Embo J., 41 (22). HOBOKEN: WILEY. ISSN 1460-2075

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

Thesis

Delle Vedove, Andrea ORCID: 0000-0003-4771-9808 (2023). Identification and Functional Assessment of Novel Neuromuscular Disease-Causing Genes. PhD thesis, Universität zu Köln.