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Journal Article
Al Kabbani, Mohamed Aghyad, Wunderlich, Gilbert, Koeler, Christoph and Zempel, Hans (2022). AAV-based gene therapy approaches for genetic forms of tauopathies and related neurogenetic disorders. Biocell, 46 (4). S. 847 - 854. HENDERSON: TECH SCIENCE PRESS. ISSN 1667-5746
Balke, Maryam, Lehmann, Helmar C., Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Wunderlich, Gilbert (2017). 30-year-old Patient with suspected Marfan Syndrome and Progressive Gait disturbance. Dtsch. Med. Wochenschr., 142 (13). S. 982 - 986. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-4413
Dafsari, Hormos Salimi, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Wunderlich, Gilbert, Daimagueler, Huelya-Sevcan, Karaca, Ezgi ORCID: 0000-0002-4926-7991, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tulay ORCID: 0000-0002-4644-2774, Kloss, Manja, Horn, Annette, Pauls, Amande, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne and Cirak, Sebahattin (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J. Hum. Genet., 64 (8). S. 803 - 814. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X
Dunkl, Veronika, Rau, Isabella, Wunderlich, Gilbert, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Lehmann, Helmar C. (2016). Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon. J. Neurol. Sci., 367. S. 81 - 83. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1878-5883
Flossdorf, Pia, Haupt, Walter F., Brunn, Anna, Deckert, Martina, Fink, Gereon R. ORCID: 0000-0002-8230-1856, Lehmann, Helmar C. and Wunderlich, Gilbert (2018). Long-Time Course of Idiopathic Small Fiber Neuropathy. Eur. Neurol., 79 (3-4). S. 161 - 166. BASEL: KARGER. ISSN 1421-9913
Hagenacker, Tim, Wurster, Claudia D., Guenther, Rene, Schreiber-Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Weiler, Markus, Ziegler, Andreas, Kuttler, Josua, Koch, Jan C., Schneider, Ilka, Wunderlich, Gilbert, Schloss, Natalie, Lehmann, Helmar C., Cordts, Isabell, Deschauer, Marcus, Lingor, Paul ORCID: 0000-0001-9362-7096, Kamm, Christoph, Stolte, Benjamin, Pietruck, Lena, Totzeck, Andreas, Kizina, Kathrin, Monninghoff, Christoph, von Velsen, Otgonzul, Ose, Claudia, Reichmann, Heinz, Forsting, Michael, Pechmann, Astrid, Kirschner, Janbernd, Ludolph, Albert C., Hermann, Andreas and Kleinschnitz, Christoph (2020). Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol., 19 (4). S. 317 - 326. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465
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
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
Kruse, Teresa, Lehmann, Helmar C., Braumann, Bert, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Wunderlich, Gilbert (2020). The Maximum Bite Force for Treatment Evaluation in Severely Affected Adult SMA Patients-Protocol for a Longitudinal Study. Front. Neurol., 11. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-2295
Lehmann, Helmar C., Schoser, Benedikt, Wunderlich, Gilbert, Berlit, Peter and Fink, Gereon R. ORCID: 0000-0002-8230-1856 (2021). Neuromuscular complications of SARS-CoV-2 infection-Part 2: muscle disorders. Nervenarzt, 92 (6). S. 548 - 556. NEW YORK: SPRINGER. ISSN 1433-0407
Lehmann, Helmar C., Schoser, Benedikt, Wunderlich, Gilbert, Berlit, Peter and Fink, Gereon R. ORCID: 0000-0002-8230-1856 (2021). Neuromuscular complications of SARS-CoV-2 infections-Part 1: peripheral nerves. Nervenarzt, 92 (6). S. 540 - 548. NEW YORK: SPRINGER. ISSN 1433-0407
Menden, Benita, Gutschalk, Alexander, Wunderlich, Gilbert and Haack, Tobias B. (2022). Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia. Mov. Disord., 37 (5). S. 1113 - 1116. HOBOKEN: WILEY. ISSN 1531-8257
Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique ORCID: 0000-0001-6593-7644, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hoelker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan and Wirth, Brunhilde (2020). De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am. J. Hum. Genet., 107 (4). S. 763 - 778. CAMBRIDGE: CELL PRESS. ISSN 1537-6605
Okur, Derya, Daimaguler, Hulya Sevcan, Danyeli, Ayca Ersen, Tekgul, Hasan, Wang, Haicui, Wunderlich, Gilbert, Cirak, Sebahattin and Yis, Uluc (2019). Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia. Turk. J. Pediatr., 61 (6). S. 931 - 937. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301
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
Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stoebe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan ORCID: 0000-0002-7416-9568, Schwaibold, Eva M. C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten and Haack, Tobias B. (2022). Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia. Neurol.-Genet., 8 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839
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
Rabenstein, Monika, Abicht, Angela, Brunn, Anna, Lehmann, Helmar and Wunderlich, Gilbert (2022). Persistent hypokalaemia and intermittent muscle weakness. Practic. Neurol., 22 (6). S. 518 - 521. LONDON: BMJ PUBLISHING GROUP. ISSN 1474-7766
Schneider, Christian, Gielen, Joerg, Roeth, Philip, Albrecht, Philipp, Schroeter, Michael, Fink, Gereon R. ORCID: 0000-0002-8230-1856, Wunderlich, Gilbert and Lehmann, Helmar C. (2020). Quantitative serological antibody testing for suspected neuroborreliosis. J. Neurol., 267 (5). S. 1476 - 1482. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1459
Schneider, Christian, Wassermann, Meike K., Grether, Nicolai B., Fink, Gereon R. ORCID: 0000-0002-8230-1856, Wunderlich, Gilbert and Lehmann, Helmar C. (2021). Motor unit number estimation in adult patients with spinal muscular atrophy treated with nusinersen. Eur. J. Neurol., 28 (9). S. 3022 - 3030. HOBOKEN: WILEY. ISSN 1468-1331
Schneider, Christian, Wunderlich, Gilbert, Bleistein, Johannes, Fink, Gereon R. ORCID: 0000-0002-8230-1856, Deckert, Martina, Brunn, Anna and Lehmann, Helmar Christoph (2017). Lymphocyte antigens targetable by monoclonal antibodies in non-systemic vasculitic neuropathy. J. Neurol. Neurosurg. Psychiatry, 88 (9). S. 756 - 761. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-330X
Sprenger-Svacina, Alina, Haensch, Johannes, Weiss, Kilian ORCID: 0000-0003-4295-4585, Hokamp, Nils Grosse, Maintz, David, Schlamann, Marc, Fink, Gereon R. ORCID: 0000-0002-8230-1856, Schloss, Natalie, Laukamp, Kai, Wunderlich, Gilbert, Lehmann, Helmar C. and Lichtenstein, Thorsten (2023). MRI correlates of motoneuron loss in SMA. J. Neurol., 270 (1). S. 503 - 511. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1459
Svacina, Martin K. R., Meissner, Anika, Schweitzer, Finja, Ladwig, Anne, Sprenger-Svacina, Alina, Klein, Ines, Wuestenberg, Hauke, Kohle, Felix ORCID: 0000-0002-4429-0367, Schneider, Christian, Grether, Nicolai B., Wunderlich, Gilbert, Fink, Gereon R. ORCID: 0000-0002-8230-1856, Klein, Florian ORCID: 0000-0003-1376-1792, Di Cristanziano, Veronica and Lehmann, Helmar C. (2022). Antibody response after COVID-19 vaccination in intravenous immunoglobulin-treated immune neuropathies. Eur. J. Neurol., 29 (11). S. 3380 - 3389. HOBOKEN: WILEY. ISSN 1468-1331