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Anzahl der Publikationen: 30
Zeitschriftenartikel
Zibold, Julia; Lessard, Lola E. R.; Picard, Flavien; da Silva, Lara Gruijs; Zadorozhna, Yelyzaveta; Streichenberger, Nathalie; Belotti, Edwige; Osseni, Alexis; Emerit, Andrea; Errazuriz-Cerda, Elisabeth; Michel-Calemard, Laurence; Menassa, Rita; Coudert, Laurent; Wiessner, Manuela; Stucka, Rolf; Klopstock, Thomas; Simonetti, Francesca; Hutten, Saskia; Nonaka, Takashi; Hasegawa, Masato; Strom, Tim M.; Bernard, Emilien; Ollagnon, Elisabeth; Urtizberea, Andoni; Dormann, Dorothee; Petiot, Philippe; Schaeffer, Laurent; Senderek, Jan und Leblanc, Pascal
(2023):
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
In: Brain
[PDF, 1MB]
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
Lischka, Annette; Lassuthova, Petra; Çakar, Arman; Record, Christopher J.; Lent, Jonas van; Baets, Jonathan; Dohrn, Maike F.; Senderek, Jan; Lampert, Angelika; Bennett, David L.; Wood, John N.; Timmerman, Vincent; Hornemann, Thorsten; Auer-Grumbach, Michaela; Parman, Yesim; Hübner, Christian A.; Elbracht, Miriam; Eggermann, Katja; Geoffrey Woods, C.; Cox, James J.; Reilly, Mary M. und Kurth, Ingo
(2022):
Genetic pain loss disorders.
In: Nature Reviews Disease Primers, Bd. 8, Nr. 1, 41
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
Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan und Pandey, Udai Bhan
(2021):
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
In: Nature Communications, Bd. 12, Nr. 1, 2558
Stendel, Claudia; D'Adamo, Maria Cristina; Wiessner, Manuela; Dusl, Marina; Cenciarini, Marta; Belia, Silvia; Nematian-Ardestani, Ehsan; Bauer, Peter; Senderek, Jan; Klopstock, Thomas und Pessia, Mauro
(2020):
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
In: International Journal of Molecular Sciences, Bd. 21, Nr. 11, 3810
[PDF, 2MB]
Rudnik-Schoeneborn, Sabine; Auer-Grumbach, Michaela und Senderek, Jan
(2020):
Charcot-Marie-Tooth disease and hereditary motor neuropathies - Update 2020.
In: Medizinische Genetik, Bd. 32, Nr. 3: S. 207-219
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
Baumann, Matthias; Schreiber, Herbert; Schlotter-Weigel, Beate; Loescher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter und Senderek, Jan
(2019):
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
In: Clinical Genetics, Bd. 95, Nr. 1: S. 182-186
Bartesaghi, Luca; Wang, Yiqiao; Fontanet, Paula; Wanderoy, Simone; Berger, Finja; Wu, Haohao; Akkuratova, Natalia; Boucanova, Filipa; Medard, Jean-Jacques; Petitpre, Charles; Landy, Mark A.; Zhang, Ming-Dong; Harrer, Philip; Stendel, Claudia; Stucka, Rolf; Dusl, Marina; Kastriti, Maria Eleni; Croci, Laura; Lai, Helen C.; Consalez, Gian Giacomo; Pattyn, Alexandre; Ernfors, Patrik; Senderek, Jan; Adameyko, Igor; Lallemend, Francois; Hadjab, Saida und Chrast, Roman
(2019):
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
In: Cell Reports, Bd. 26, Nr. 13
Dusl, Marina; Moreno, Teresa; Muneii, Francina; Macaya, Alfons; Gratacos, Margarida; Abicht, Angela; Strom, Tim M.; Lochmuller, Hanns und Senderek, Jan
(2019):
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
In: Journal of Neurology, Bd. 266, Nr. 5: S. 1107-1112
Cruz, Pedro M. Rodriguez; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Liu, Wei Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Reed, Umbertina Conti; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Topf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline und Beeson, David
(2019):
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
In: Brain, Bd. 142: S. 1547-1560
Owen, David; Topf, Ana; Preethish-Kumar, Veeramani; Lorenzoni, Paulo Jose; Vroling, Bas; Scola, Rosana Herminia; Dias-Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, Sergi; Gut, Marta; Gut, Ivo; Nalini, Atchayaram und Lochmüller, Hanns
(2018):
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
In: American Journal of Medical Genetics Part A, Bd. 176, Nr. 7: S. 1594-1601
Vill, Katharina; Müller-Felber, Wolfgang; Gläser, Dieter; Kuhn, Marius; Teusch, Veronika; Schreiber, Herbert; Weis, Joachim; Klepper, Jörg; Schirmacher, Anja; Blaschek, Astrid; Wiessner, Manuela; Strom, Tim M.; Draeger, Bianca; Hofmeister-Kiltz, Kristina; Tacke, Moritz; Gerstl, Lucia; Young, Peter; Horvath, Rita und Senderek, Jan
(2018):
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
In: Human Genetics, Bd. 137, Nr. 11-12: S. 911-919
Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole; Desguerre, Isabelle; Wörmann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix und Koch, Johannes
(2018):
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
In: Neuropediatrics, Bd. 49, Nr. 5: S. 330-338
Schlotter-Weigel, Beate und Senderek, Jan
(2018):
Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus.
In: Fortschritte der Neurologie, Psychiatrie, Bd. 86, Nr. 9: S. 566-574
Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten und Senderek, Jan
(2018):
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
In: EMBO Journal, Bd. 37, Nr. 23, e100540
Brauers, Eva; Roos, Andreas; Kollipara, Laxmikanth; Zahedi, René P.; Beckmann, Alf; Mohanadas, Nilane; Bauer, Hartmut; Häusler, Martin; Thoma, Stéphanie; Kress, Wolfram; Senderek, Jan und Weis, Joachim
(2017):
The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.
In: Proteomics Clinical Applications, Bd. 11, Nr. 43132, 1600007
Dijk, Tessa van; Rudnik-Schöneborn, Sabine; Senderek, Jan; Hajmousa, Ghazaleh; Mei, Hailiang; Dusl, Marina; Aronica, Eleonora; Barth, Peter und Baas, Frank
(2017):
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
In: Brain, Bd. 140, e46
Rudnik-Schöneborn, Sabine; Auer-Grumbach, Michaela und Senderek, Jan
(2017):
Hereditary Neuropathies: Update 2017.
In: Neuropediatrics, Bd. 48, Nr. 4: S. 282-293
Kollipara, Laxmikanth; Buchkremer, Stephan; Coraspe, Jose Andres Gonzalez; Hathazi, Denisa; Senderek, Jan; Weis, Joachim; Zahedi, Rene P. und Roos, Andreas
(2017):
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjogren syndrome.
In: Oncotarget, Bd. 8, Nr. 40: S. 68493-68516
Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns und Senderek, Jan
(2017):
Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
In: American Journal of Human Genetics, Bd. 100, Nr. 3: S. 523-536
[PDF, 2MB]
Weis, Joachim; Claeys, Kristl G.; Roos, Andreas; Azzedine, Hamid; Katona, Istvan; Schröder, J. Michael und Senderek, Jan
(2017):
Towards a functional pathology of hereditary neuropathies.
In: Acta Neuropathologica, Bd. 133, Nr. 4: S. 493-515
O'Connor, Emily; Töpf, Ana; Müller, Juliane S.; Cox, Daniel; Evangelista, Teresinha; Colomer, Jaume; Abicht, Angela; Senderek, Jan; Hasselmann, Oswald; Yaramis, Ahmet; Laval, Steven H. und Lochmüller, Hanns
(2016):
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
In: Brain, Bd. 139: S. 2143-2153
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
Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J. und Klopstock, Thomas
(2016):
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 735-743
Kabzinska, Dagmara; Mierzewska, Hanna; Senderek, Jan und Kochanski, Andrzej
(2016):
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
In: Folia Neuropathologica, Bd. 54, Nr. 3: S. 273-281
[PDF, 240kB]
Schreiber, Olivia; Schneiderat, Peter; Kress, Wolfram; Rautenstrauss, Bernd; Senderek, Jan; Schoser, Benedikt und Walter, Maggie C.
(2013):
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A-evidence for "double trouble" overlapping syndromes.
In: BMC Medical Genetics
14:92
[PDF, 1MB]
Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schuele, Rebecca; Haack, Tobias B.; Schoening, Martin; Biskup, Saskia; Rudnik-Schoeneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krueger, Stefan; Kreuz, Friedmar; Bauer, Peter und Schoels, Ludger
(2013):
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
In: Orphanet Journal of Rare Diseases
8:41
[PDF, 1MB]