Resultados de procura - Stendel Claudia

Mast Syndrome Outside the Amish Community: SPG21 in Europe por Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas

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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.

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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

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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

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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

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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

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Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial por Feil, Katharina, Adrion, Christine, Boesch, Sylvia, Doss, Sarah, Giordano, Ilaria, Hengel, Holger, Jacobi, Heike, Klockgether, Thomas, Klopstock, Thomas, Nachbauer, Wolfgang, Schöls, Ludger, Steiner, Katharina Marie, Stendel, Claudia, Timmann, Dagmar, Naumann, Ivonne, Mansmann, Ulrich, Strupp, Michael

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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

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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.

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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 

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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

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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.

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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

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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

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Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives por Schischlevskij, Pavel, Cordts, Isabell, Günther, René, Stolte, Benjamin, Zeller, Daniel, Schröter, Carsten, Weyen, Ute, Regensburger, Martin, Wolf, Joachim, Schneider, Ilka, Hermann, Andreas, Metelmann, Moritz, Kohl, Zacharias, Linker, Ralf A., Koch, Jan Christoph, Stendel, Claudia, Müschen, Lars H., Osmanovic, Alma, Binz, Camilla, Klopstock, Thomas, Dorst, Johannes, Ludolph, Albert C., Boentert, Matthias, Hagenacker, Tim, Deschauer, Marcus, Lingor, Paul, Petri, Susanne, Schreiber-Katz, Olivia

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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

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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

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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

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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

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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

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