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Anzahl der Publikationen: 5
Zeitschriftenartikel
Høyer, Helle 
ORCID: https://orcid.org/0000-0002-5445-0520; Hilmarsen, Hilde T.; Sunder-Plassmann, Raute; Braathen, Geir J.; Andersen, Peter M; Beetz, Christian ORCID: https://orcid.org/0000-0001-7061-2895; Hacker, Sandra; Holla, Øystein L. ORCID: https://orcid.org/0000-0002-7697-857X; Kurth, Ingo; Löscher, Wolfgang N.; Reiter, Simone B. C. F.; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan und Auer-Grumbach, Michaela
(2022):
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 1024-1026
[PDF, 2MB]
ORCID: https://orcid.org/0000-0002-5445-0520; Hilmarsen, Hilde T.; Sunder-Plassmann, Raute; Braathen, Geir J.; Andersen, Peter M; Beetz, Christian ORCID: https://orcid.org/0000-0001-7061-2895; Hacker, Sandra; Holla, Øystein L. ORCID: https://orcid.org/0000-0002-7697-857X; Kurth, Ingo; Löscher, Wolfgang N.; Reiter, Simone B. C. F.; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan und Auer-Grumbach, Michaela
(2022):
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 1024-1026
[PDF, 2MB]
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan
(2021):
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
In: Brain, Bd. 144: S. 1422-1434
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah; Bennett, James T. und Sahin, Mustafa
(2020):
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
In: Brain, Bd. 143: S. 2929-2944
Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej und Auer-Grumbach, Michaela
(2020):
The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME.
In: Neurology, Bd. 95, Nr. 24, E3163-E3179
Auer-Grumbach, Michaela; Toegel, Stefan; Schabhüttl, Maria; Weinmann, Daniela; Chiari, Catharina; Bennett, David L. H.; Beetz, Christian; Klein, Dennis; Andersen, Peter M.; Böhme, Ilka; Fink-Puches, Regina; Gonzalez, Michael; Harms, Matthew B.; Motley, William; Reilly, Mary M.; Renner, Wilfried; Rudnik-Schoeneborn, Sabine; Schlotter-Weigel, Beate; Themistocleous, Andreas C.; Weishaupt, Jochen H.; Ludolph, Albert C.; Wieland, Thomas; Tao, Feifei; Abreu, Lisa; Windhager, Reinhard; Zitzelsberger, Manuela; Strom, Tim M.; Walther, Thomas; Scherer, Steven S.; Züchner, Stephan; Martini, Rudolf und Senderek, Jan
(2016):
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 607-623