Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Knierim, Ellen, Hirata, Hiromi, Wolf, Nicole I., Morales-Gonzalez, Susanne, Schottmann, Gudrun, Tanaka, Yu, Rudnik-Schöneborn, Sabine, Orgeur, Mickael, Zerres, Klaus, Vogt, Stefanie, van Riesen, Anne, Gill, Esther, Seifert, Franziska, Zwirner, Angelika, Kirschner, Janbernd, Goebel, Hans Hilmar, Hübner, Christoph, Stricker, Sigmar, Meierhofer, David, Stenzel, Werner, Schuelke, Markus
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V, Lucke, Barbara, Pottinger, Caroline, Abdelhamed, Zakia A, Parry, David A, Szymanska, Katarzyna, Diggle, Christine P, van Riesen, Anne, Morgan, Joanne E, Markham, Grace, Ellis, Ian, Manzur, Adnan Y, Markham, Alexander F, Shires, Mike, Helliwell, Tim, Scoto, Mariacristina, Hübner, Christoph, Bonthron, David T, Taylor, Graham R, Sheridan, Eamonn, Muntoni, Francesco, Carr, Ian M, Schuelke, Markus, Johnson, Colin A
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Predictors of outcome in patients with cerebral palsy following selective dorsal rhizotomy
Weinbrecht-Mischkewitz, Max, Wittmack, Elisa, Hentschel, Franziska, Sarpong-Bengelsdorf, Akosua, Funk, Julia, Schulz, Matthias, Wolter, Simone, Schneider, Joanna, Thomale, Ulrich-Wilhelm, Kaindl, Angela M., Bittigau, Petra, van Riesen, Anne K.
Published in Early human development (01.01.2025)
Published in Early human development (01.01.2025)
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Motor and functional outcome of selective dorsal rhizotomy in children with spastic diplegia at 12 and 24 months of follow-up
Sargut, Tarik Alp, Haberl, Hannes, Wolter, Simone, Tafelski, Sascha, van Riesen, Anne, Linhard, Maijana, Kaindl, Angela M., Thomale, Ulrich-Wilhelm, Schulz, Matthias
Published in Acta neurochirurgica (01.10.2021)
Published in Acta neurochirurgica (01.10.2021)
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Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single‐Arm, Multicenter Study with a Subsequent Randomized Double‐Blind Crossover (STIM‐CP)
Koy, Anne, Kühn, Andrea A., Huebl, Julius, Schneider, Gerd‐Helge, Riesen, Anne K., Eckenweiler, Matthias, Rensing‐Zimmermann, Cornelia, Coenen, Volker Arnd, Krauss, Joachim K., Saryyeva, Assel, Hartmann, Hans, Haeussler, Martin, Volkmann, Jens, Matthies, Cordula, Horn, Annette, Schnitzler, Alfons, Vesper, Jan, Gharabaghi, Alireza, Weiss, Daniel, Bevot, Andrea, Marks, Warren, Pomykal, Angela, Monbaliu, Elegast, Borck, Guntram, Mueller, Joerg, Prinz‐Langenohl, Reinhild, Dembek, Till, Visser‐Vandewalle, Veerle, Wirths, Jochen, Schiller, Petra, Hellmich, Martin, Timmermann, Lars
Published in Movement disorders (01.04.2022)
Published in Movement disorders (01.04.2022)
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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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GRIN2A-related disorders: genotype and functional consequence predict phenotype
Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R
Published in Brain (London, England : 1878) (01.01.2019)
Published in Brain (London, England : 1878) (01.01.2019)
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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
Averdunk, Luisa, Donkervoort, Sandra, Horn, Denise, Waldmüller, Stephan, Syeda, Safoora, Neuhaus, Sarah B., Chao, Katherine R., van Riesen, Anne, Gauck, Darja, Haack, Tobias, Japp, Anna S., Lee, Unaa, Bönnemann, Carsten G., Mayatepek, Ertan, Distelmaier, Felix
Published in Neuropediatrics (01.10.2022)
Published in Neuropediatrics (01.10.2022)
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Frequency distribution in intraoperative stimulation-evoked EMG responses during selective dorsal rhizotomy in children with cerebral palsy—part 2: gender differences and left-biased asymmetry
Wolter, Simone, Haberl, Hannes, Spies, Claudia, Sargut, T. Alp, Martin, John H., Tafelski, Sascha, van Riesen, Anne, Küchler, Ingeborg, Wegner, Brigitte, Scholtz, Kathrin, Thomale, Ulrich-W., Michael, Theodor, Murphy, James F., Schulz, Matthias
Published in Child's nervous system (01.09.2020)
Published in Child's nervous system (01.09.2020)
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Effect of Deep Brain Stimulation of the Globus Pallidus Internus on Quality of Life in Young Patients with Dyskinetic Cerebral Palsy (STIM-CP): a Prospective Single-Arm Multicenter Trial with a Double-Blind Cross-Over at 12-Months Follow-up
Koy, Anne, Kühn, Andrea A, van Riesen, Anne, Huebl, Julius, Korinthenberg, Rudolf, Coenen, Volker A, Krauss, Joachim K, Wloch, Andreas, Lorenz, Delia, Haussler, Martin, Schnitzler, Alfons, Vesper, Jan, Alesch, Francois, Lehmacher, Walter, Mueller, Joerg, Borck, Guntram, Witt, Karsten, Baumer, Tobias, Berweck, Steffen, Schroder, Sebastian, Voges, Jurgen, Langenohl, Reinhild Prinz, Vandewalle, Veerle Visser, Hellmich, Martin, Timmermann, Lars, investigators, STIM CP
Published in Journal of clinical trials (2017)
Published in Journal of clinical trials (2017)
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