Universität zu Köln

Journal Article

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

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

Zilio, Eleonora ORCID: 0000-0003-4356-7675, Piano, Valentina ORCID: 0000-0002-9539-561X and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2022). Mitochondrial Dysfunction in Spinal Muscular Atrophy. Int. J. Mol. Sci., 23 (18). BASEL: MDPI. ISSN 1422-0067

Brown, Sharon J., Kline, Rachel A., Synowsky, Silvia A., Shirran, Sally L., Holt, Ian, Sillence, Kelly A., Claus, Peter ORCID: 0000-0003-3824-9445, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Wishart, Thomas M. and Fuller, Heidi R. (2022). The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap. Cells, 11 (17). BASEL: MDPI. ISSN 2073-4409

Vrettou, Sofia and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2022). S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases. Int. J. Mol. Sci., 23 (24). BASEL: MDPI. ISSN 1422-0067

Buettner, Jannik M., Longang, Josiane K. Sime, Gerstner, Florian, Apel, Katharina S., Blanco-Redondo, Beatriz, Sowoidnich, Leonie, Janzen, Eva, Langenhan, Tobias ORCID: 0000-0002-9061-3809, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Simon, Christian M. (2021). Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models. iScience, 24 (11). CAMBRIDGE: CELL PRESS. ISSN 2589-0042

Keller, Natalie, Paketci, Cem, Edem, Pinar, Thiele, Holger, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy. Eur. J. Med. Genet., 64 (2). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Maehlich, Daniela, Glasmacher, Anne, Mueller, Ilka, Oppermann, Johannes, Grevenstein, David ORCID: 0000-0003-4823-7739, Eysel, Peer, Heilig, Juliane, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Zaucke, Frank ORCID: 0000-0002-7680-9354 and Niehoff, Anja ORCID: 0000-0002-4165-0929 (2021). Expression and Localization of Thrombospondins, Plastin 3, and STIM1 in Different Cartilage Compartments of the Osteoarthritic Varus Knee. Int. J. Mol. Sci., 22 (6). BASEL: MDPI. ISSN 1422-0067

Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum. Mutat., 42 (4). S. 460 - 473. HOBOKEN: WILEY. ISSN 1098-1004

Fedou, Camille, Camus, Mylene, Lescat, Ophelie, Feuillet, Guylene, Mueller, Ilka, Ross, Bryony, Buleon, Marie, Neau, Eric, Alves, Melinda, Goudouneche, Dominique, Breuil, Benjamin, Boizard, Franck, Bardou, Quentin, Casemayou, Audrey, Tack, Ivan, Dreux, Sophie, Batut, Julie, Blader, Patrick ORCID: 0000-0003-3299-6108, Burlet-Schiltz, Odile, Decramer, Stephane, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Klein, Julie ORCID: 0000-0002-3279-0559, Saulnier-Blache, Jean Sebastien, Buffin-Meyer, Benedicte and Schanstra, Joost P. (2021). Mapping of the amniotic fluid proteome of fetuses with congenital anomalies of the kidney and urinary tract identifies plastin 3 as a protein involved in glomerular integrity. J. Pathol., 254 (5). S. 575 - 589. HOBOKEN: WILEY. ISSN 1096-9896

Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Glaeser, Dieter, Nennstiel, Uta, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Burggraf, Siegfried, Roeschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jurgen, Eggermann, Katja, Olgemoeller, Bernhard, Harms, Erik, Schara, Ulrike, Koelbel, Heike and Mueller-Felber, Wolfgang (2021). Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J. Rare Dis., 16 (1). LONDON: BMC. ISSN 1750-1172

Wolff, Lisa ORCID: 0000-0002-7296-0479, Strathmann, Eike A., Mueller, Ilka, Maehlich, Daniela, Veltman, Charlotte, Niehoff, Anja and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2021). Plastin 3 in health and disease: a matter of balance. Cell. Mol. Life Sci., 78 (13). S. 5275 - 5302. BASEL: SPRINGER BASEL AG. ISSN 1420-9071

Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2021). Spinal Muscular Atrophy: In the Challenge Lies a Solution. Trends Neurosci., 44 (4). S. 306 - 323. LONDON: ELSEVIER SCIENCE LONDON. ISSN 1878-108X

Petry-Schmelzer, Jan Niklas ORCID: 0000-0003-0749-3840, Keller, Natalie, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Wunderlich, Gilbert (2021). VPS13D: One Family, Same Mutations, Two Phenotypes. MOV. DISORD. CLIN. PRACT., 8 (5). S. 803 - 807. HOBOKEN: WILEY. ISSN 2330-1619

Pagnamenta, Alistair T., Kaiyrzhanov, Rauan ORCID: 0000-0003-1640-4010, Zou, Yaqun, Da'as, Sahar, I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen ORCID: 0000-0003-1607-0428, Ferla, Matteo P., Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita ORCID: 0000-0001-7351-959X, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A., Yip, Janice, Foley, A. Reghan, Gutowski, Nicholas, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M., Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C., Need, Anna C., Nemeth, Andrea H., Neuhaus, Sarah B., Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W., Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Fakhro, Khalid A., Tajsharghi, Homa, Bonnemann, Carsten G., Taylor, Jenny C. and Houlden, Henry (2021). An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain, 144. S. 584 - 601. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Czibere, Ludwig ORCID: 0000-0002-7508-5841, Burggraf, Siegfried ORCID: 0000-0002-2116-0156, Fleige, Tobias, Glueck, Birgit, Keitel, Lisa Marie, Landt, Olfert, Durner, Juergen, Roeschinger, Wulf, Hohenfellner, Katharina, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Mueller-Felber, Wolfgang, Vill, Katharina and Becker, Marc (2020). High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR. Eur. J. Hum. Genet., 28 (1). S. 23 - 31. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Karakaya, Mert, Paketci, Cem ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am. J. Med. Genet. A, 179 (8). S. 1580 - 1585. HOBOKEN: WILEY. ISSN 1552-4833

Rehorst, Wiebke A., Thelen, Maximilian P., Nolte, Hendrik, Tuerk, Clara, Cirak, Sebahattin, Peterson, Jonathan M., Wong, G. William, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Krueger, Marcus ORCID: 0000-0003-2008-4582, Winter, Dominic and Kye, Min Jeong ORCID: 0000-0002-1323-7256 (2019). Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy. Acta Neuropathol. Commun., 7 (1). LONDON: BMC. ISSN 2051-5960

Torres-Benito, Laura, Schneider, Svenja, Rombo, Roman, Ling, Karen K., Grysko, Vanessa, Upadhyay, Aaradhita, Kononenko, Natalia L., Rigo, Frank, Bennett, C. Frank and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice. Am. J. Hum. Genet., 105 (1). S. 221 - 231. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Upadhyay, Aaradhita, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Kaczmarek, Anna, Torres-Benito, Laura, Mendoza-Ferreira, Natalia, Overhoff, Melina, Rombo, Roman, Grysko, Vanessa, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Kononenko, Natalia L. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological. Front. Molec. Neurosci., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-5099

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

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

Mendoza-Ferreira, Natalia, Coutelier, Marie ORCID: 0000-0002-0261-7210, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Loehr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus ORCID: 0000-0003-2592-5045, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni ORCID: 0000-0001-9368-8657 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol.-Genet., 4 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Janzen, Eva, Mendoza-Ferreira, Natalia, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Hupperich, Kristina, Tschanz, Theresa, Grysko, Vanessa, Riessland, Markus ORCID: 0000-0003-2592-5045, Hammerschmidt, Matthias, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Torres-Benito, Laura and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain, 141. S. 2343 - 2362. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Krosschell, Kristin J., Kissel, John T., Townsend, Elise L., Simeone, Sarah D., Zhang, Ren Zhe, Reyna, Sandra P., Crawford, Thomas O., Schroth, Mary K., Acsadi, Gyula, Kishnani, Priya S., Von Kleist-Retzow, Juergen-Christoph, Hero, Barbara, D'Anjou, Guy, Smith, Edward C., Elsheikh, Bakri, Simard, Louise R., Prior, Thomas W., Scott, Charles B., Lasalle, Bernard, Sakonju, Ai, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Swoboda, Kathryn J. (2018). CLINICAL TRIAL OF L-CARNITINE AND VALPROIC ACID IN SPINAL MUSCULAR ATROPHY TYPE I. Muscle Nerve, 57 (2). S. 193 - 200. HOBOKEN: WILEY. ISSN 1097-4598

Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromusc. Disord., 28 (2). S. 103 - 116. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Finkel, Richard S., Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromusc. Disord., 28 (3). S. 197 - 208. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Strathmann, Eike A., Peters, Miriam, Hosseinibarkooie, Seyyedmohsen, Rigo, Frank W., Bennett, C. Frank, Zaworski, Phillip G., Chen, Karen S., Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice. PLoS One, 13 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Goncalves, Ines do Carmo G., Brecht, Johanna, Thelen, Maximilian P., Rehorst, Wiebke A., Peters, Miriam, Lee, Hyun Ju, Motameny, Susanne, Torres-Benito, Laura, Ebrahimi-Fakhari, Darius ORCID: 0000-0002-0026-4714, Kononenko, Natalia L., Altmueller, Janine, Vilchez, David ORCID: 0000-0002-0801-0743, Sahin, Mustafa, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Kye, Min Jeong ORCID: 0000-0002-1323-7256 (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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

Diao, Yupu, Cui, Liyuan, Chen, Yuqing, Burbridge, Timothy J., Han, Wenqi, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Sestan, Nenad, Crair, Michael C. and Zhang, Jiayi ORCID: 0000-0002-1575-0723 (2018). Reciprocal Connections Between Cortex and Thalamus Contribute to Retinal Axon Targeting to Dorsal Lateral Geniculate Nucleus. Cereb. Cortex, 28 (4). S. 1168 - 1183. CARY: OXFORD UNIV PRESS INC. ISSN 1460-2199

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

Shorrock, Hannah K., van der Hoorn, Dinja, Boyd, Penelope J., Hurtado, Maica Llavero, Lamont, Douglas J., Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Sleigh, James N. ORCID: 0000-0002-3782-9045, Schiavo, Giampietro, Wishart, Thomas M., Groen, Ewout J. N. and Gillingwater, Thomas H. (2018). UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy. Brain, 141. S. 2878 - 2895. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Advances in understanding the role of disease-associated proteins in spinal muscular atrophy. Expert Rev. Proteomics, 14 (7). S. 581 - 593. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1744-8387

Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza ORCID: 0000-0002-6295-127X, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Galehdari, Hamid, Bonnemann, Carsten G., Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. Brain, 140. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016. Eur. J. Hum. Genet., 25. S. S37 - 2. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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

Rademacher, Sebastian ORCID: 0000-0002-1592-9838, Verheijen, Bert M., Hensel, Niko, Peters, Miriam, Bora, Gamze, Brandes, Gudrun, de Sa, Renata Vieira, Heidrich, Natascha, Fischer, Silke, Brinkmann, Hella, van der Pol, W. Ludo, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Pasterkamp, R. Jeroen and Claus, Peter ORCID: 0000-0003-3824-9445 (2017). Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA). Hum. Mol. Genet., 26 (20). S. 3946 - 3960. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian ORCID: 0000-0003-1693-9699, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am. J. Hum. Genet., 100 (2). S. 297 - 316. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

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

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

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

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

Hosseinibarkooie, Seyyedmohsen, Peters, Miriam, Torres-Benito, Laura, Rastetter, Raphael H., Hupperich, Kristina, Hoffmann, Andrea, Mendoza-Ferreira, Natalia, Kaczmarek, Anna, Janzen, Eva, Milbradt, Janine, Lamkemeyer, Tobias, Rigo, Frank, Bennett, C. Frank, Guschlbauer, Christoph, Bueschges, Ansgar, Hammerschmidt, Matthias, Riessland, Markus ORCID: 0000-0003-2592-5045, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Clemen, Christoph S. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2016). The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. Am. J. Hum. Genet., 99 (3). S. 647 - 666. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Rahe, Julia, Becker, Jutta, Fink, Gereon R. ORCID: 0000-0002-8230-1856, Kessler, Josef, Kukolja, Juraj ORCID: 0000-0003-1569-3287, Rahn, Andreas, Rosen, Jan B., Szabados, Florian, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Kalbe, Elke (2015). Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success. Front. Aging Neurosci., 7. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1663-4365

Martinez-Carrera, Lilian A. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2015). Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein. Front. Neurosci., 9. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-453X

Kaczmarek, Anna, Schneider, Svenja, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Riessland, Markus ORCID: 0000-0003-2592-5045 (2015). Investigational therapies for the treatment of spinal muscular atrophy. Expert Opin. Investig. Drugs, 24 (7). S. 867 - 882. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1744-7658

Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Barkats, Martine, Martinat, Cecile, Sendtner, Michael ORCID: 0000-0002-4737-2974 and Gillingwater, Thomas H. (2015). Moving towards treatments for spinal muscular atrophy: hopes and limits. Expert Opin Emerg. Drugs, 20 (3). S. 353 - 357. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1744-7623

Zheng, Xiaoxu, Reho, John J., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Fisher, Steven A. (2015). TRA2 beta controls Mypt1 exon 24 splicing in the developmental maturation of mouse mesenteric artery smooth muscle. Am. J. Physiol.-Cell Physiol., 308 (4). S. C289 - 8. BETHESDA: AMER PHYSIOLOGICAL SOC. ISSN 1522-1563

Zheng, Xiaoxu, Reho, John J., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Fisher, Steven A. (2015). TRA2 beta controls Mypt1 exon 24 splicing in the developmental maturation of mouse mesenteric artery smooth muscle. Am. J. Physiol.-Cell Physiol., 308 (4). S. C289 - 8. BETHESDA: AMER PHYSIOLOGICAL SOC. ISSN 1522-1563

Synofzik, Matthis ORCID: 0000-0002-2280-7273, Martinez-Carrera, Lilian A., Lindig, Tobias, Schoels, Ludger and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2014). Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J. Neurol. Neurosurg. Psychiatry, 85 (5). S. 590 - 593. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-330X

Wishart, Thomas M., Mutsaers, Chantal A., Riessland, Markus ORCID: 0000-0003-2592-5045, Reimer, Michell M., Hunter, Gillian, Hannam, Marie L., Eaton, Samantha L., Fuller, Heidi R., Roche, Sarah L., Somers, Eilidh, Morse, Robert, Young, Philip J., Lamont, Douglas J., Hammerschmidt, Matthias, Joshi, Anagha, Hohenstein, Peter ORCID: 0000-0001-8548-4734, Morris, Glenn E., Parson, Simon H., Skehel, Paul A., Becker, Thomas ORCID: 0000-0003-2578-0819, Robinson, Iain M., Becker, Catherina G., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Gillingwater, Thomas H. (2014). Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy. J. Clin. Invest., 124 (4). S. 1821 - 1835. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Komlosi, Katalin, Hadzsiev, Kinga, Garbes, Lutz, Carrera, Lilian A. Martinez, Pal, Endre ORCID: 0000-0001-6525-0754, Sigurosson, Johann Haukur, Magnusson, Olafur, Melegh, Bela and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2014). Exome sequencing identifies Laing distal myopathy MYH7 meutation in a Roma family previously diagnosed with distal neuronopathy. Neuromusc. Disord., 24 (2). S. 156 - 162. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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

Lohkamp, Laura Nanna, von Au, Katja, Goebel, Hans-Hilmar, Kress, Wolfram, Grieben, Ulrike, Drossel, Karin, Garbes, Lutz, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Heppner, Frank L. and Stenzel, Werner (2014). A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene. J. Child Neurol., 29 (2). S. 254 - 260. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1708-8283

Kye, Min Jeong ORCID: 0000-0002-1323-7256, Niederst, Emily D., Wertz, Mary H., Goncalves, Ines do Carmo G., Akten, Bikem, Dover, Katarzyna Z., Peters, Miriam, Riessland, Markus ORCID: 0000-0003-2592-5045, Neveu, Pierre ORCID: 0000-0003-4939-3418, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Kosik, Kenneth S., Sardi, S. Pablo, Monani, Umrao R., Passini, Marco A. and Sahin, Mustafa (2014). SMN regulates axonal local translation via miR-183/mTOR pathway. Hum. Mol. Genet., 23 (23). S. 6318 - 6332. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Roberts, Jacqueline M., Ennajdaoui, Hanane, Edmondson, Carina, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Sanford, Jeremy R. and Chen, Bin (2014). Splicing Factor TRA2B Is Required for Neural Progenitor Survival. J. Comp. Neurol., 522 (2). S. 372 - 393. HOBOKEN: WILEY. ISSN 1096-9861

van Dijk, Fleur S., Zillikens, M. Carola, Micha, Dimitra ORCID: 0000-0001-7890-4411, Riessland, Markus ORCID: 0000-0003-2592-5045, Marcelis, Carlo L. M., de Die-Smulders, Christine E., Milbradt, Janine, Franken, Anton A., Harsevoort, Arjan J., Lichtenbelt, Klaske D., Pruijs, Hans E., Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M., Bakker, Astrid D., Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J., Verkerk, Annemieke J. M. H., Uitterlinden, Andre G., Maugeri, Alessandra, Sistermans, Erik A., Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Simon, Marleen E. H. and Pals, Gerard ORCID: 0000-0003-4091-7115 (2013). PLS3 Mutations in X-Linked Osteoporosis with Fractures. N. Engl. J. Med., 369 (16). S. 1529 - 1537. WALTHAM: MASSACHUSETTS MEDICAL SOC. ISSN 1533-4406

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

Mutsaers, Chantal A., Wishart, Thomas M., Lamont, Douglas J., Riessland, Markus ORCID: 0000-0003-2592-5045, Schreml, Julia, Comley, Laura H., Murray, Lyndsay M., Parson, Simon H., Lochmueller, Hanns, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Talbot, Kevin ORCID: 0000-0001-5490-1697 and Gillingwater, Thomas H. (2011). Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum. Mol. Genet., 20 (22). S. 4334 - 4345. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Noelle, Anna, Zeug, Andre ORCID: 0000-0001-9858-5841, van Bergeijk, Jeroen, Toenges, Lars, Gerhard, Ralf, Brinkmann, Hella, Al Rayes, Sarah, Hensel, Niko, Schill, Yvonne, Apkhazava, David, Jablonka, Sibylle ORCID: 0000-0002-4517-3760, O'mer, Jana, Srivastav, Ratnesh Kumar, Baasner, Anne, Lingor, Paul ORCID: 0000-0001-9362-7096, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Ponimaskin, Evgeni, Niedenthal, Rainer, Grothe, Claudia and Claus, Peter ORCID: 0000-0003-3824-9445 (2011). The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin. Hum. Mol. Genet., 20 (24). S. 4865 - 4879. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083