MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Por Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.
Publicado no Hum Mutat (2019)

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

Por Minnerop, Martina, Kurzwelly, Delia, Rattay, Tim W, Timmann, Dagmar, Hengel, Holger, Synofzik, Matthis, Stendel, Claudia, Horvath, Rita, Schüle, Rebecca, Ramirez, Alfredo
Publicado no Brain (2018)

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

Por Stendel, Claudia, D’Adamo, Maria Cristina, Wiessner, Manuela, Dusl, Marina, Cenciarini, Marta, Belia, Silvia, Nematian-Ardestani, Ehsan, Bauer, Peter, Senderek, Jan, Klopstock, Thomas, Pessia, Mauro
Publicado no Int J Mol Sci (2020)

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

Por Arnaud, Estelle, Zenker, Jennifer, de Preux Charles, Anne-Sophie, Stendel, Claudia, Roos, Andreas, Médard, Jean-Jacques, Tricaud, Nicolas, Kleine, Henning, Luscher, Bernhard, Weis, Joachim, Suter, Ueli, Senderek, Jan, Chrast, Roman
Publicado em 2009

Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

Por Horn, Michael, Baumann, Reto, Pereira, Jorge A., Sidiropoulos, Páris N. M., Somandin, Christian, Welzl, Hans, Stendel, Claudia, Lühmann, Tessa, Wessig, Carsten, Toyka, Klaus V., Relvas, João B., Senderek, Jan, Suter, Ueli
Publicado em 2012

Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III...

Por Feil, Katharina, Adrion, Christine, Teufel, Julian, Bösch, Sylvia, Claassen, Jens, Giordano, Ilaria, Hengel, Holger, Jacobi, Heike, Klockgether, Thomas, Klopstock, Thomas, Nachbauer, Wolfgang, Schöls, Ludger, Stendel, Claudia, Uslar, Ellen, van de Warrenburg, Bart, Berger, Ingrid, Naumann, Ivonne, Bayer, Otmar, Müller, Hans-Helge, Mansmann, Ulrich, Strupp, Michael
Publicado no BMC Neurol (2017)

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Por Senderek, Jan, Garvey, Sean M., Krieger, Michael, Guergueltcheva, Velina, Urtizberea, Andoni, Roos, Andreas, Elbracht, Miriam, Stendel, Claudia, Tournev, Ivailo, Mihailova, Violeta, Feit, Howard, Tramonte, Jeff, Hedera, Peter, Crooks, Kristy, Bergmann, Carsten, Rudnik-Schöneborn, Sabine, Zerres, Klaus, Lochmüller, Hanns, Seboun, Eric, Weis, Joachim, Beckmann, Jacques S., Hauser, Michael A., Jackson, Charles E.
Publicado em 2009

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Por Stendel, Claudia , Roos, Andreas , Deconinck, Tine , Pereira, Jorge , Castagner, François , Niemann, Axel , Kirschner, Janbernd , Korinthenberg, Rudolf , Ketelsen, Uwe-Peter , Battaloglu, Esra , Parman, Yesim , Nicholson, Garth , Ouvrier, Robert , Seeger, Jürgen , Jonghe, Peter De , Weis, Joachim , Krüttgen, Alexander , Rudnik-Schöneborn, Sabine , Bergmann, Carsten , Suter, Ueli , Zerres, Klaus , Timmerman, Vincent , Relvas, João B. , Senderek, Jan 
Publicado em 2007

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

Por Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas
Publicado no Neurol Genet (2020)

International Paediatric Mitochondrial Disease Scale

Por Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.
Publicado no J Inherit Metab Dis (2016)

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Por Synofzik, Matthis, Smets, Katrien, Mallaret, Martial, Di Bella, Daniela, Gallenmüller, Constanze, Baets, Jonathan, Schulze, Martin, Magri, Stefania, Sarto, Elisa, Mustafa, Mona, Deconinck, Tine, Haack, Tobias, Züchner, Stephan, Gonzalez, Michael, Timmann, Dagmar, Stendel, Claudia, Klopstock, Thomas, Durr, Alexandra, Tranchant, Christine, Sturm, Marc, Hamza, Wahiba, Nanetti, Lorenzo, Mariotti, Caterina, Koenig, Michel, Schöls, Ludger, Schüle, Rebecca, de Jonghe, Peter, Anheim, Mathieu, Taroni, Franco, Bauer, Peter
Publicado no Brain (2016)

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Por Bartesaghi, Luca, Wang, Yiqiao, Fontanet, Paula, Wanderoy, Simone, Berger, Finja, Wu, Haohao, Akkuratova, Natalia, Bouçanova, Filipa, Médard, Jean-Jacques, Petitpré, 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, Chrast, Roman
Publicado no Cell Rep (2019)

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Por Senderek, Jan, Bergmann, Carsten, Stendel, Claudia, Kirfel, Jutta, Verpoorten, Nathalie, De Jonghe, Peter, Timmerman, Vincent, Chrast, Roman, H. G. Verheijen, Mark, Lemke, Greg, Battaloglu, Esra, Parman, Yesim, Erdem, Sevim, Tan, Ersin, Topaloglu, Haluk, Hahn, Andreas, Müller-Felber, Wolfgang, Rizzuto, Nicolò, Fabrizi, Gian Maria, Stuhrmann, Manfred, Rudnik-Schöneborn, Sabine, Züchner, Stephan, Michael Schröder, J., Buchheim, Eckhard, Straub, Volker, Klepper, Jörg, Huehne, Kathrin, Rautenstrauss, Bernd, Büttner, Reinhard, Nelis, Eva, Zerres, Klaus
Publicado em 2003

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease

Por Azzedine, Hamid, Zavadakova, Petra, Planté-Bordeneuve, Violaine, Vaz Pato, Maria, Pinto, Nuno, Bartesaghi, Luca, Zenker, Jennifer, Poirot, Olivier, Bernard-Marissal, Nathalie, Arnaud Gouttenoire, Estelle, Cartoni, Romain, Title, Alexandra, Venturini, Giulia, Médard, Jean-Jacques, Makowski, Edward, Schöls, Ludger, Claeys, Kristl G., Stendel, Claudia, Roos, Andreas, Weis, Joachim, Dubourg, Odile, Leal Loureiro, José, Stevanin, Giovanni, Said, Gérard, Amato, Anthony, Baraban, Jay, LeGuern, Eric, Senderek, Jan, Rivolta, Carlo, Chrast, Roman
Publicado em 2013

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

Por Schöls, Ludger, Rattay, Tim W, Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J, Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marques, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M, Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thomas, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca
Publicado no Brain (2017)

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Por Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S, Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmüller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A, Stirnberg, Rüdiger, Sturm, Marc, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca
Publicado no Brain (2017)

Transcriptional regulator PRDM12 is essential for human pain perception

Por Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan
Publicado no Nat Genet (2015)