A novel AARS mutation in a family with dominant myeloneuropathy von Motley, William W, Griffin, Laurie B, Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S

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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation von Beijer, D., Kim, H.J., Guo, L., O'Donovan, K., Mademan, I., Deconinck, T., Schil, K. van, Fare, C.M., Drake, L.E., Ford, A.F., Kochanski, A., Kabzinska, D., Dubuisson, N., Bergh, P. van den, Voermans, N.C., Lemmers, R.J.L.F., Maarel, S.M. van der, Bonner, D., Sampson, J.B., Wheeler, M.T., Mehrabyan, A., Palmer, S., Jonghe, P. de, Shorter, J., Taylor, J.P., Baets, J.

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies von Salter, CG, Beijer, D, Hardy, H, Barwick, KES, Bower, M, Mademan, I, De Jonghe, P, Deconinck, T, Russell, MA, McEntagart, MM, Chioza, BA, Blakely, RD, Chilton, JK, De Bleecker, J, Baets, J, Baple, EL, Walk, D, Crosby, AH

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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy von Tsai, Pei-Chien, Soong, Bing-Wen, Mademan, Inès, Huang, Yen-Hua, Liu, Chia-Rung, Hsiao, Cheng-Tsung, Wu, Hung-Ta, Liu, Tze-Tze, Liu, Yo-Tsen, Tseng, Yen-Ting, Lin, Kon-Ping, Yang, Ueng-Cheng, Chung, Ki Wha, Choi, Byung-Ok, Nicholson, Garth A, Kennerson, Marina L, Chan, Chih-Chiang, De Jonghe, Peter, Cheng, Tzu-Hao, Liao, Yi-Chu, Züchner, Stephan, Baets, Jonathan, Lee, Yi-Chung

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Defects of mutant DNMT1 are linked to a spectrum of neurological disorders von Baets, Jonathan, Duan, Xiaohui, Wu, Yanhong, Smith, Gordon, Seeley, William W, Mademan, Inès, McGrath, Nicole M, Beadell, Noah C, Khoury, Julie, Botuyan, Maria-Victoria, Mer, Georges, Worrell, Gregory A, Hojo, Kaori, DeLeon, Jessica, Laura, Matilde, Liu, Yo-Tsen, Senderek, Jan, Weis, Joachim, Van den Bergh, Peter, Merrill, Shana L, Reilly, Mary M, Houlden, Henry, Grossman, Murray, Scherer, Steven S, De Jonghe, Peter, Dyck, Peter J, Klein, Christopher J

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Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy von Abbott, Jamie A., Meyer‐Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel‐Vanagaite, Lina, Züchner, Stephan, Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher

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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation von Beijer, Danique, Kim, Hong Joo, Guo, Lin, O'Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M, Drake, Lauren E, Ford, Alice F, Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C, Lemmers, Richard Jlf, van der Maarel, Silvère M, Bonner, Devon, Sampson, Jacinda B, Wheeler, Matthew T, Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J Paul, Baets, Jonathan

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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum von Mademan, Inès, Harmuth, Florian, Giordano, Ilaria, Timmann, Dagmar, Magri, Stefania, Deconinck, Tine, Claaßen, Jens, Jokisch, Daniel, Genc, Gencer, Di Bella, Daniela, Romito, Silvia, Schüle, Rebecca, Züchner, Stephan, Taroni, Franco, Klockgether, Thomas, Schöls, Ludger, De Jonghe, Peter, Bauer, Peter, Consortium, Eoa, Baets, Jonathan, Synofzik, Matthis

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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 von KORNAK, Uwe, MADEMAN, Inès, POU-SERRADELL, Adolf, VILCHEZ, Juan J, BEETZ, Christian, DECONINCK, Tine, TIMMERMAN, Vincent, KAETHER, Christoph, DE JONGHE, Peter, HÜBNER, Christian A, GAL, Andreas, AMLING, Michael, SCHINKE, Marte, MUNDLOS, Stefan, BAETS, Jonathan, KURTH, Ingo, VOIGT, Martin, KRAWITZ, Peter, HECHT, Jochen, BARVENCIK, Florian, SCHINKE, Thorsten, GIESSELMANN, Sebastian, TIMO BEIL, F

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De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy von Mademan, Inès, Deconinck, Tine, Dinopoulos, Argirios, Voit, Thomas, Schara, Ulrike, Devriendt, Koenraad, Meijers, Björn, Lerut, Evelyne, De Jonghe, Peter, Baets, Jonathan

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A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis von Yiş, Uluç, Mademan, Inès, Kavukçu, Salih, Baets, Jonathan

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Cover Image, Volume 39, Issue 3 von Abbott, Jamie A., Meyer-Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel-Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher

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De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy von Mademan, Inès, Deconinck, Tine, Dinopoulos, Argirios, Voit, Thomas, Schara, Ulrike, Devriendt, Koenraad, Meijers, Björn, Lerut, Evelyne, De Jonghe, Peter, Baets, Jonathan

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies von Salter, Claire G, Beijer, Danique, Hardy, Holly, Barwick, Katy E S, Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A, McEntagart, Meriel M, Chioza, Barry A, Blakely, Randy D, Chilton, John K, De Bleecker, Jan, Baets, Jonathan, Baple, Emma L, Walk, David, Crosby, Andrew H

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Aggregates of Mutant DNMT1 Are Linked to a Spectrum of Neurological Disorders (S34.007) von Baets, Jonathan, Duan, Xiaohui, Wu, Yanhong, Smith, Gordon, Seeley, William, Mademan, Ines, McGrath, Nicole, Beadell, Noah, Khoury, Julie, Botuyan, Maria-Victoria, Mer, Georges, Worrell, Gregory, Hojo, Kaori, Delone, Jessica, Laura, Matilde, Liu, Yo-Tsen, Senderek, Jan, Weis, Joachim, Van den Bergh, Peter, Merrill, Shana, Reilly, Mary, Houlden, Henry, Grossman, Murray, Scherer, Steven, De Jonghe, Peter, Dyck, Peter, Klein, Christopher

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies von Salter, Claire G, Beijer, Danique, Hardy, Holly, Barwick, Katy ES, Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A, McEntagart, Meriel M, Chioza, Barry A, Blakely, Randy D, Chilton, John K, De Bleecker, Jan, Baets, Jonathan, Baple, Emma L, Walk, David, Crosby, Andrew H

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A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis von Yiş, Uluç, Mademan, Inès, Kavukçu, Salih, Baets, Jonathan

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