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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.

    Artikel in Zeitschriften

  • Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D’Amico, Adele; Deconinck, Nicolas; Desguerre, Isabelle; Erazo-Torricelli, Ricardo; Gurgel-Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S.; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M.; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Alvarez, Rachel; Muntoni, Francesco; Pierson, Tyler M.; Gómez-Andrés, David; Reghan Foley, A.; Quijano-Roy, Susana; Bönnemann, Carsten G.; Bonne, Gisèle
    International retrospective natural history study of LMNA-related congenital muscular dystrophy
    In: Brain Communications Jg. 3 (2021) Nr. 3, 75
  • Servais, Laurent; Straathof, Chiara S.M.; Schara, Ulrike; Klein, Andrea; Leinonen, Mika; Hasham, Shabir; Meier, Thomas; De Waele, Liesbeth; Gordish-Dressman, Heather; McDonald, Craig M.; Mayer, Oscar H.; Voit, Thomas; Mercuri, Eugenio; Buyse, Gunnar M.
    Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. 1, S. 5 - 16
  • Mayer, O. H.; Leinonen, M.; Servais, L.; Straathof, C.; Schara, Ulrike; Voit, Thomas; Mercuri, E.; Buyse, G.; Syros Investigators
    Evaluating the effect of long-term idebenone treatment on respiratory morbidity in patients with Duchenne muscular dystrophy (DMD)
    In: European Respiratory Journal (ERJ) Jg. 54 (2019) Nr. Suppl. 63,
  • McDonald, Craig M; Campbell, Craig; Torricelli, Ricardo Erazo; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Osorio, Andrés Nascimento; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B; Sweeney, H Lee; Topaloglu, Haluk; Tulinius, Már; Vilchez, Juan J; Voit, Thomas; Wong, Brenda; Elfring, Gary; Kroger, Hans; Luo, Xiaohui; McIntosh, Joseph; Ong, Tuyen; Riebling, Peter; Souza, Marcio; Spiegel, Robert J; Peltz, Stuart W; Mercuri, Eugenio; Alfano, Lindsay N; Eagle, Michelle; James, Meredith K; Lowes, Linda; Mayhew, Anna; Mazzone, Elena S; Nelson, Leslie; Rose, Kristy J; Abdel-Hamid, Hoda Z; Apkon, Susan D; Barohn, Richard J; Bertini, Enrico; Bloetzer, Clemens; de Vaud, Lausanne Canton; Butterfield, Russell J; Chabrol, Brigitte; Chae, Jong-Hee; Jongno-gu, Daehak-ro; Comi, Giacomi Pietro; Darras, Basil T; Dastgir, Jahannaz; Desguerre, Isabelle; Escobar, Raul G; Finanger, Erika; Guglieri, Michela; Hughes, Imelda; Iannaccone, Susan T; Jones, Kristi J; Karachunski, Peter; Kudr, Martin; Lotze, Timothy; Mah, Jean K; Mathews, Katherine; Nevo, Yoram; Parsons, Julie; Péréon, Yann; de Queiroz Campos Araujo, Alexandra Prufer; Renfroe, J Ben; de Resende, Maria Bernadete Dutra; Ryan, Monique; Selby, Kathryn; Tennekoon, Gihan; Vita, Giuseppe
    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD) : a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
    In: Lancet Jg. 390 (2017) Nr. 10101, S. 1489 - 1498
  • Meier, Thomas; Rummey, Christian; Leinonen, Mika; Spagnolo, Paolo; Mayer, Oscar H.; Buyse, Gunnar M.; Bernert, G.; Knipp, F.; Goemans, N.; Van den Hauwe, M.; Voit, Thomas; Doppler, V.; Gidaro, T.; Cuisset, J.-M.; Coopman, S.; Schara, Ulrike; Lutz, Sabine; Kirschner, J.; Borell, S.; Will, M.; D'Angelo, M.G.; Brighina, E.; Gandossini, S.; Gorni, K.; Falcier, E.; Politano, L.; D'Ambrosio, P.; Taglia, A.; Verschuuren, J.J.G.M.; Straathof, C.S.M.; Vílchez Padilla, J.J.; Muelas Gómez, N.; Sejersen, T.; Hovmöller, M.; Jeannet, P.-Y.; Bloetzer, C.; Iannaccone, S.; Castro, D.; Tennekoon, G.; Finkel, R.; Bönnemann, C.; McDonald, C.; Henricson, E.; Joyce, N.; Apkon, S.; Richardson, R.C.
    Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. 4, S. 307 - 314
  • Buyse, G.M.; Voit, Thomas; Schara, Ulrike; Straathof, C.S.M.; D’Angelo, M.G.; Bernert, G.; Cuisset, J.-M.; Finkel, Richard S.; Goemans, N.; Rummey, Christian; Leinonen, Mika; Mayer, Oscar H.; Spagnolo, Paolo; Meier, Thomas; McDonald, Craig M.; Knipp, F.; Van den Hauwe, M.; Doppler, V.; Gidaro, T.; Coopman, S.; Lutz, S.; Kirschner, J.; Borell, S.; Will, M.; Brighina, E.; Gandossini, S.; Gorni, K.; Falcier, E.; Politano, L.; D’Ambrosio, P.; Taglia, A.; Verschuuren, J.J.G.M.; Vílchez Padilla, J.J.; Muelas Gómez, N.; Sejersen, T.; Hovmöller, M.; Jeannet, P.-Y.; Bloetzer, C.; Iannaccone, S.; Castro, D.; Tennekoon, G.; Bönnemann, C.; Henricson, E.; Joyce, N.; Apkon, S.; Richardson, R.C.
    Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
    In: Pediatric Pulmonology Jg. 52 (2017) Nr. 4, S. 508 - 515
  • Meier, T.; Buyse, G.; Finkel, R.; Voit, Thomas; Cuisset, J.; McDonald, C.; Goemans, N.; Leinonen, M.; Bernert, G.; Straathof, C.; D'Angelo, M.; Schara, Ulrike; Rummey, C.; Spagnolo, P.
    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. S156
  • Meier, Thomas; Voit, Thomas; Schara, Ulrike; Straathof, Chiara S. M.; D'Angelo, M. Grazia; Bernert, Günther; Cuisset, Jean-Marie; Finkel, Richard S.; Goemans, Nathalie; Rummey, Christian; Leinonen, Mika; Spagnolo, Paolo; Buyse, Gunnar M.; Knipp, F.; Buyse, Gunnar M.; Hauwe, M. van den; Doppler, V.; Gidaro, T.; Cuisset, J.-M.; Coopman, S.; Lutz, Sabine; Kirschner, J.; Borell, S.; Will, M.; D'Angelo, M. G.; Brighina, E.; Gandossini, S.; Gorni, K.; Falcier, E.; Politano, L.; D'Ambrosio, P.; Taglia, A.; Verschuuren, J. J. G. M.; Straathof, C. S. M.; Vílchez Padilla, J. J.; Muelas Gómez, N.; Sejersen, T.; Hovmöller, M.; Jeannet, P.-Y.; Bloetzer, C.; Iannaccone, S.; Castro, D.; Tennekoon, G.; Bönnemann, C.; McDonald, C.; Henricson, E.; Joyce, N.; Apkon, S.; Richardson, R. C.
    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. 8, S. 473 - 480
  • Buyse, G.; Voit, Thomas; Schara, Ulrike; Straathof, C.; DAngelo, M.; Bernert, G.; Cuisset, J.; Finkel, R.; Goemans, N.; Rummey, C.; Leinonen, M.; Mayer, O.; Spagnolo, P.; Meier, T.; McDonald, C.
    Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. S156 - S157
  • Annoussamy, M.; Chabanon, A.; Phelep, A.; Hogrel, J. Y.; Carlier, P.; Fournier, E.; Hermosilla, R.; Ramey, G.; Czech, C.; Lowes, L.; Pereon, Y.; Cances, C.; Cuisset, J.; Laugel, V.; Vuillerot, C.; Daron, A.; Goemans, N.; Schara, Ulrike; Voit, Thomas; Servais, L.
    A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 195
  • Buyse, Gunnar M; Voit, Thomas; Schara, Ulrike; Straathof, Chiara S M; D'Angelo, M Grazia; Bernert, Günther; Cuisset, Jean-Marie; Finkel, Richard S; Goemans, Nathalie; McDonald, Craig M; Rummey, Christian; Meier, Thomas; DELOS Study Group; Lutz, S
    Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS) : a double-blind randomised placebo-controlled phase 3 trial
    In: Lancet Jg. 385 (2015) Nr. 9979, S. 1748 - 1757
  • Buyse, G.; Voit, Thomas; Schara, Ulrike; Straathof, C.; D'Angelo, M.; Bernert, G.; Cuisset, J.; Finkel, R.; Goemans, N.; McDonald, C.; Rummey, C.; Meier, T.
    Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroids
    In: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 305
  • Annoussamy, M.; Landy, H.; Ramsdell, D.; Nelken, M.; Muntoni, F.; Bonnemann, C.; Bharucha, D.; Dowling, J. J.; Amburgey, K.; Lilien, C.; Ollivier, G.; Laporte, J.; Biancalana, V.; Schara, Ulrike; Cuisset, J. M.; DAmico, A.; Deconinck, N.; Jeannet, P. Y.; Klein, A.; Fluss, J.; Mayer, M.; Seferian, A. M.; Le Moing, A. G.; Gidaro, T.; Hogrel, J. Y.; Mingozzi, F.; Buj-Bello, A.; Voit, Thomas; Servais, L.
    An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy
    In: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 806 - 806
  • Mademan, Inès; Deconinck, Tine; Dinopoulos, Argirios; Voit, Thomas; Schara, Ulrike; Devriendt, Koenraad; Meijers, Björn; Lerut, Evelyne; Jonghe, Peter De; Baets, Jonathan
    De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
    In: Neurology Jg. 81 (2013) Nr. 22, S. 1953 - 1958
  • Cirak, Sebahattin; Foley, Aileen Reghan; Herrmann, Ralf; Willer, Tobias; Yau, Shu; Stevens, Elizabeth; Torelli, Silvia; Brodd, Lina; Kamynina, Alisa; Vondracek, Petr; Roper, Helen; Longman, Cheryl; Korinthenberg, Rudolf; Marrosu, Gianni; Nürnberg, Peter; Michele, Daniel E.; Plagnol, Vincent; Hurles, Matt; Moore, Steven A.; Sewry, Caroline A.; Campbell, Kevin P.; Voit, Thomas; Muntoni, Francesco
    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
    In: Brain: A Journal of Neurology Jg. 136 (2013) Nr. 1, S. 269 - 281
  • Guergueltcheva, Velina; Müller, Juliane S.; Dusl, Marina; Senderek, Jan; Oldfors, Anders; Lindbergh, Christopher; Maxwell, Susan; Colomer, Jaume; Mallebrera, Cecilia Jimenez; Nascimento, Andres; Vilchez, Juan J.; Muelas, Nuria; Kirschner, Janbernd; Nafissi, Shahriar; Kariminejad, Ariana; Nilipour, Yalda; Bozorgmehr, Bita; Najmabadi, Hossein; Rodolico, Carmelo; Sieb, Jörn P.; Schlotter, Beate; Schoser, Benedikt; Herrmann, Ralf; Voit, Thomas; Steinlein, Ortrud K.; Najafi, Abdolhamid; Urtizberea, Andoni; Soler, Doriette M.; Muntoni, Francesco; Hanna, Michael G.; Chaouch, Amina; Straub, Volker; Bushby, Kate; Palace, Jacqueline; Beeson, David; Abicht, Angela; Lochmüller, Hanns
    Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
    In: Journal of Neurology Jg. 259 (2012) Nr. 5, S. 838 - 850
  • Senderek, Jan; Müller, Juliane S.; Dusl, Marina; Strom, Tim M.; Guergueltcheva, Velina; Diepolder, Irmgard; Laval, Steven H.; Maxwell, Susan; Cossins, Judy; Krause, Sabine; Muelas, Nuria; Vilchez, Juan J.; Colomer, Jaume; Mallebrera, Cecilia Jimenez; Nascimento, Andres; Nafissi, Shahriar; Kariminejad, Ariana; Nilipour, Yalda; Bozorgmehr, Bita; Najmabadi, Hossein; Rodolico, Carmelo; Sieb, Jörn P.; Steinlein, Ortrud K.; Schlotter, Beate; Schoser, Benedikt; Kirschner, Janbernd; Herrmann, Ralf; Voit, Thomas; Oldfors, Anders; Lindbergh, Christopher; Urtizberea, Andoni; Von Der Hagen, Maja; Hübner, Angela; Palace, Jacqueline; Bushby, Kate; Straub, Volker; Beeson, David; Abicht, Angela; Lochmüller, Hanns
    Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
    In: The American Journal of Human Genetics Jg. 88 (2011) Nr. 2, S. 162 - 172
  • Lommel, Mark; Cirak, Sebahattin; Willer, Tobias; Hermann, Richard; Uyanik, Goekhan; van Bokhoven, Hans; Körner, Christof; Voit, Thomas; Baric, Ivo; Hehr, Ute; Strahl, Sabine
    Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies
    In: Neurology Jg. 74 (2010) Nr. 2, S. 157 - 164
  • Cirak, Sebahattin; Von Deimling, Florian; Sachdev, Shrikesh; Errington, Wesley J.; Herrmann, Ralf; Bönnemann, Carsten; Brockmann, Knut; Hinderlich, Stephan; Lindner, Tom H.; Steinbrecher, Alice; Hoffmann, Katrin; Privé, Gilbert G.; Hannink, Mark; Nürnberg, Peter; Voit, Thomas
    Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
    In: Brain: A Journal of Neurology Jg. 133 (2010) Nr. 7, S. 2123 - 2135
  • Aboumousa, Ahmed; Hoogendijk, Jessica; Charlton, Richard; Barresi, Rita; Herrmann, Ralf; Voit, Thomas; Hudson, Judith; Roberts, Mark; Hilton-Jones, David; Eagle, Michelle; Bushby, Kate; Straub, Volker
    Caveolinopathy – New mutations and additional symptoms
    In: Neuromuscular Disorders Jg. 18 (2008) Nr. 7, S. 572 - 578
  • Klepper, Jörg; Heringhaus, Anja; Wurthmann, Cornelius; Voit, Thomas
    Expect the unexpected : favourable outcome in Munchausen by proxy syndrome
    In: European Journal of Pediatrics volume Jg. 167 (2008) Nr. 9, S. 1085 - 1088
  • Dohna-Schwake, Christian; Podlewski, P.; Voit, Thomas; Mellies, Uwe
    Non-invasive ventilation reduces respiratory tract infections in children with neuromuscular disorders
    In: Pediatric Pulmonology Jg. 43 (2008) Nr. 1, S. 67 - 71
  • Rice, G.; Patrick, T.; Parmar, R.; Taylor, C. F.; Aeby, A.; Aicardi, J.; Artuch, R.; Montalto, S. A.; Bacino, C. A.; Barroso, B.; Baxter, P.; Benko, W. S.; Bergmann, C.; Bertini, E.; Biancheri, R.; Blair, E. M.; Blau, N.; Bonthron, D. T.; Briggs, T.; Brueton, L. A.; Brunner, H. G.; Burke, C. J.; Carr, I. M.; Carvalho, D. R.; Chandler, K. E.; Christen, H. J.; Corry, P. C.; Cowan, F. M.; Cox, H.; D'Arrigo, S.; Dean, J.; De Laet, C.; De Praeter, C.; Dery, C.; Ferrie, C. D.; Flintoff, K.; Frints, S. G.; Garcia-Cazorla, A.; Gener, B.; Goizet, C.; Goutieres, F.; Green, A. J.; Guet, A.; Hamel, B. C.; Hayward, B. E.; Heiberg, A.; Hennekam, R. C.; Husson, M.; Jackson, A. P.; Jayatunga, R.; Jiang, Y. H.; Kant, S. G.; Kao, A.; King, M. D.; Kingston, H. M.; Klepper, Jörg; van der Knaap, M. S.; Kornberg, A. J.; Kotzot, D.; Kratzer, W.; Lacombe, D.; Lagae, L.; Landrieu, P. G.; Lanzi, G.; Leitch, A.; Lim, M. J.; Livingston, J. H.; Lourenco, C. M.; Lyall, E. G.; Lynch, S. A.; Lyons, M. J.; Marom, D.; McClure, J. P.; McWilliam, R.; Melancon, S. B.; Mewasingh, L. D.; Moutard, M. L.; Nischal, K. K.; Ostergaard, J. R.; Prendiville, J.; Rasmussen, M.; Rogers, R. C.; Roland, D.; Rosser, E. M.; Rostasy, K.; Roubertie, A.; Sanchis, A.; Schiffmann, R.; Scholl-Burgi, S.; Seal, S.; Shalev, S. A.; Corcoles, C. S.; Sinha, G. P.; Soler, D.; Spiegel, R.; Stephenson, J. B.; Tacke, U.; Tan, T. Y.; Till, M.; Tolmie, J. L.; Tomlin, P.; Vagnarelli, F.; Valente, E. M.; Van Coster, R. N.; Van der Aa, N.; Vanderver, A.; Vles, J. S.; Voit, Thomas; Wassmer, E.; Weschke, B.; Whiteford, M. L.; Willemsen, M. A.; Zankl, A.; Zuberi, S. M.; Orcesi, S.; Fazzi, E.; Lebon, P.; Crow, Y. J.
    Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    In: The American Journal of Human Genetics (AJHG) Jg. 81 (2007) Nr. 4, S. 713 - 725
  • Amthor, Helge; Macharia, Raymond; Navarrete, Roberto; Schuelke, Markus; Brown, Susan C.; Otto, Anthony; Voit, Thomas; Muntoni, Francesco; Vrbova, Gerta; Partridge, Terence; Zammit, Peter; Bunger, Lutz; Patel, Ketan
    Correction for Amthor et al., Lack of myostatin results in excessive muscle growth but impaired force generation
    In: Proceedings of the National Academy of Sciences of the United States of America (PNAS) Jg. 104 (2007) Nr. 10, S. 4240
  • van Reeuwijk, J.; Grewal, P. K.; Salih, M. A.; Beltrán-Valero de Bernabé, D.; McLaughlan, J. M.; Michielse, C. B.; Herrmann, Ralf; Hewitt, J. E.; Steinbrecher, A.; Seidahmed, M. Z.; Shaheed, M. M.; Abomelha, A.; Brunner, H. G.; van Bokhoven, H.; Voit, Thomas
    Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
    In: Human Genetics Jg. 121 (2007) Nr. 6, S. 685 - 690
  • Amthor, Helge; Macharia, Raymond; Navarrete, Roberto; Schuelke, Markus; Brown, Susan C.; Otto, Anthony; Voit, Thomas; Muntoni, Francesco; Vrbóva, Gerta; Partridge, Terence; Zammit, Peter; Bunger, Lutz; Patel, Ketan
    Lack of myostatin results in excessive muscle growth but impaired force generation
    In: Proceedings of the National Academy of Sciences of the United States of America (PNAS) Jg. 104 (2007) Nr. 6, S. 1835 - 1840
  • Weiss, Claudia; Jakubiczka, Sibylle; Huebner, Angela; Klopocki, Eva; Kress, Wolfram; Voit, Thomas; Hübner, Christoph; Schuelke, Markus
    Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities
    In: Muscle & Nerve Jg. 35 (2007) Nr. 3, S. 396 - 401
  • Dohna-Schwake, Christian; Voit, Thomas; Mellies, Uwe
    Chest infections in young neuromuscular patients : The critical importance of preserving Vital Capacity - Reply
    In: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 614 - 615
  • Kishnani, P. S.; Nicolino, M.; Voit, Thomas; Rogers, R. C.; Tsai, A. C.; Waterson, J.; Herman, G. E.; Amalfitano, A.; Thurberg, B. L.; Richards, S.; Davison, M.; Corzo, D.; Chen, Y. T.
    Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
    In: The Journal of Pediatrics Jg. 149 (2006) Nr. 1, S. 89 - 97
  • Assmann, B.; Göhlich, G.; Baethmann, M.; Wevers, R. A.; Van Gennip, A. H.; Van Kuilenburg, A. B.; Dietrich, C.; Wagner, L.; Rotteveel, J. J.; Schaper, J.; Mayatepek, E.; Hoffmann, G. F.; Voit, Thomas
    Clinical Findings and a Therapeutic Trial in the First Patient with β-Ureidopropionase Deficiency
    In: Neuropediatrics Jg. 37 (2006) Nr. 1, S. 20 - 25
  • Wallot, Michael; Dohna-Schwake, Christian; Auth, Marcus Karl-Heinz; Nadalin, Silvio; Fiedler, Melanie; Malagó, M.; Broelsch, C.; Voit, Thomas
    Disseminated adenovirus infection with respiratory failure in pediatric liver transplant recipients : Impact of intravenous cidofovir and inhaled nitric oxide
    In: Pediatric Transplantation Jg. 10 (2006) Nr. 1, S. 121 - 127
  • Cirak, Sebahattin; Uyanik, Goekhan; Herrmann, Ralf; Gross, Claudia; Hehr, Ute; Voit, Thomas
    Expanding the spectrum of POMT1 mutations : limb-girdle muscular dystrophy with mental retardation and microcephaly (LGMD2K)
    In: Neuromuscular Disorders Jg. 16 (2006) Nr. Suppl. 1, S. 77
  • van Kuilenburg, A. B.; Meinsma, R.; Assman, B.; Hoffman, G. F.; Voit, Thomas; Ribes, A.; Lorente, I.; Busch, R.; Mayatepek, E.; Abeling, N. G.; Wevers, R. A.; Rutsch, F.; van Gennip, A. H.
    Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency
    In: Nucleosides, Nucleotides & Nucleic Acids Jg. 25 (2006) Nr. 9-11, S. 1093 - 1098
  • Dohna-Schwake, Christian; Ragette, Regine; Teschler, Helmut; Voit, Thomas; Mellies, Uwe
    IPPB-assisted coughing in neuromuscular disorders
    In: Pediatric Pulmonology Jg. 41 (2006) Nr. 6, S. 551 - 557
  • Penner, Juliane; Mantey, Lars R.; Elgavish, Sharona; Ghaderi, Darius; Cirak, Sebahattin; Berger, Markus; Krause, Sabine; Lucka, Lothar; Voit, Thomas; Mitrani-Rosenbaum, Stella; Hinderlich, Stephan
    Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy
    In: Biochemistry Jg. 45 (2006) Nr. 9, S. 2968 - 2977
  • Lamont, P. J.; Udd, B.; Mastaglia, F. L.; de Visser, M.; Hedera, P.; Voit, Thomas; Bridges, L. R.; Fabian, V.; Rozemuller, A.; Laing, N. G.
    Laing early onset distal myopathy : slow myosin defect with variable abnormalities on muscle biopsy
    In: Journal of Neurology, Neurosurgery and Psychiatry Jg. 77 (2006) Nr. 2, S. 208 - 215
  • Crow, Y. J.; Leitch, A.; Hayward, B. E.; Garner, A.; Parmar, R.; Griffith, E.; Ali, M.; Semple, C.; Aicardi, J.; Babul-Hirji, R.; Baumann, C.; Baxter, P.; Bertini, E.; Chandler, K. E.; Chitayat, D.; Cau, D.; Déry, C.; Fazzi, E.; Goizet, C.; King, M. D.; Klepper, Jörg; Lacombe, D.; Lanzi, G.; Lyall, H.; Martínez-Frías, M. L.; Mathieu, M.; McKeown, C.; Monier, A.; Oade, Y.; Quarrell, O. W.; Rittey, C. D.; Rogers, R. C.; Sanchis, A.; Stephenson, J. B.; Tacke, U.; Till, M.; Tolmie, J. L.; Tomlin, P.; Voit, Thomas; Weschke, B.; Woods, C. G.; Lebon, P.; Bonthron, D. T.; Ponting, C. P.; Jackson, A. P.
    Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    In: Nature Genetics Jg. 38 (2006) Nr. 8, S. 910 - 916
  • Crow, Y. J.; Hayward, B. E.; Parmar, R.; Robins, P.; Leitch, A.; Ali, M.; Black, D. N.; van Bokhoven, H.; Brunner, H. G.; Hamel, B. C.; Corry, P. C.; Cowan, F. M.; Frints, S. G.; Klepper, Jörg; Livingston, J. H.; Lynch, S. A.; Massey, R. F.; Meritet, J. F.; Michaud, J. L.; Ponsot, G.; Voit, Thomas; Lebon, P.; Bonthron, D. T.; Jackson, A. P.; Barnes, D. E.; Lindahl, T.
    Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    In: Nature Genetics Jg. 38 (2006) Nr. 8, S. 917 - 920
  • Cirak, S.; Klepper, Jörg; Abunada, M.; Rodenburg, R.; Stehling, Florian; Herrmann, Ralf; Schroder, J. M.; Smeitink, J.; Nuernberg, P.; Voit, Thomas
    Novel nuclear encoded autosomal recessive mitochondriopathy
    In: Neuromuscular disorders Jg. 16 (2006) Nr. 9-10, S. 660
  • Dohna-Schwake, Christian; Ragette, Regine; Teschler, Helmut; Voit, Thomas; Mellies, Uwe
    Predictors of severe chest infections in pediatric neuromuscular disorders
    In: Neuromuscular Disorders Jg. 16 (2006) Nr. 5, S. 325 - 328
  • Mercuri, E.; Topaloglu, H.; Brockington, M.; Berardinelli, A.; Pichiecchio, A.; Santorelli, F.; Rutherford, M.; Talim, B.; Ricci, E.; Voit, Thomas; Muntoni, F.
    Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
    In: Archives of Neurology Jg. 63 (2006) Nr. 2, S. 251 - 257
  • Muntoni, F.; Voit, Thomas
    133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 11, S. 794 - 801
  • Bertini, E.; Burghes, A.; Bushby, K.; Estournet-Mathiaud, B.; Finkel, R. S.; Hughes, R. A.; Iannaccone, S. T.; Melki, J.; Mercuri, E.; Muntoni, F.; Voit, Thomas; Reitter, B.; Swoboda, K. J.; Tiziano, D.; Tizzano, E.; Topaloglu, H.; Wirth, B.; Zerres, K.
    134th ENMC International Workshop : Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 11, S. 802 - 816
  • Verhoeven, N. M.; Wallot, Michael; Huck, J. H.; Dirsch, O.; Ballauff, Antje; Neudorf, Ulrich; Salomons, G. S.; van der Knaap, M. S.; Voit, Thomas; Jakobs, C.
    A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
    In: Journal of Inherited Metabolic Disease (JIMD) Jg. 28 (2005) Nr. 2, S. 169 - 179
  • Straussberg, R.; Basel-Vanagaite, L.; Kivity, S.; Dabby, R.; Cirak, S.; Nurnberg, P.; Voit, Thomas; Mahajnah, M.; Inbar, D.; Saifi, G. M.; Lupski, J. R.; Delague, V.; Megarbane, A.; Richter, A.; Leshinsky, E.; Berkovic, S. F.
    An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures
    In: Neurology Jg. 64 (2005) Nr. 1, S. 142 - 144
  • Ito, Y.; Gertsen, E.; Oguni, H.; Nakayama, T.; Matsuo, M.; Funatsuka, M.; Voit, Thomas; Klepper, Jörg; Osawa, M.
    Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
    In: Brain and Development Jg. 27 (2005) Nr. 4, S. 311 - 317
  • Morava, E.; Wopereis, S.; Coucke, P.; Gillessen-Kaesbach, G.; Voit, Thomas; Smeitink, J.; Wevers, R.; Grünewald, S.
    Defective protein glycosylation in patients with cutis laxa syndrome
    In: European Journal of Human Genetics Jg. 13 (2005) Nr. 4, S. 414 - 421
  • Klinge, Lars; Straub, V.; Neudorf, Ulrich; Voit, Thomas
    Enzyme replacement therapy in classical infantile pompe disease : results of a ten-month follow-up study
    In: Neuropediatrics Jg. 36 (2005) Nr. 1, S. 6 - 11
  • Loeffen, J.; Smeets, R.; Voit, Thomas; Hoffmann, G.; Smeitink, J.
    Fumarase deficiency presenting with periventricular cysts
    In: Journal of Inherited Metabolic Disease (JIMD) Jg. 28 (2005) Nr. 5, S. 799 - 800
  • Baumann, U.; Duhme, V.; Knerr, I.; Pronicka, E.; Auth, Marcus Karl-Heinz; Voit, Thomas
    Lektin-reaktives Alpha-Fetoprotein bei Patienten mit Tyrosinämie Typ I
    In: Klinische Pädiatrie Jg. 217 (2005) Nr. 3, S. 142 - 146
  • Jungbluth, H.; Zhou, H.; Hartley, L.; Halliger-Keller, B.; Messina, S.; Longman, C.; Brockington, M.; Robb, S. A.; Straub, V.; Voit, Thomas; Swash, M.; Ferreiro, A.; Bydder, G.; Sewry, C. A.; Müller, C.; Muntoni, F.
    Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
    In: Neurology Jg. 65 (2005) Nr. 12, S. 1930 - 1935
  • Senderek, J.; Krieger, M.; Stendel, C.; Bergmann, C.; Moser, M.; Breitbach-Faller, N.; Rudnik-Schöneborn, S.; Blaschek, A.; Wolf, N. I.; Harting, I.; North, K.; Smith, J.; Muntoni, F.; Brockington, M.; Quijano-Roy, S.; Renault, F.; Herrmann, Ralf; Hendershot, L. M.; Schröder, J. M.; Lochmüller, H.; Topaloglu, H.; Voit, Thomas; Weis, J.; Ebinger, F.; Zerres, K.
    Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    In: Nature Genetics Jg. 37 (2005) Nr. 12, S. 1312 - 1314
  • Vainzof, M.; Richard, P.; Herrmann, Ralf; Jimenez-Mallebrera, C.; Talim, B.; Yamamoto, L. U.; Ledeuil, C.; Mein, R.; Abbs, S.; Brockington, M.; Romero, N. B.; Zatz, M.; Topaloglu, H.; Voit, Thomas; Sewry, C.; Muntoni, F.; Guicheney, P.; Tomé, F. M.
    Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy : a collective experience of five international centers
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 588 - 594
  • Auth, Marcus Karl-Heinz; Kim, H. S.; Beste, M.; Bonzel, Klaus Eugen; Baumann, U.; Ballauff, Antje; Wallot, Michael; Borchers, T.; Vester, Udo; Grasemann, Corinna; Hauffa, Berthold; Hoyer, Peter Friedrich; Gerken, Guido; Voit, Thomas
    Removal of metabolites, cytokines and hepatic growth factors by extracorporeal liver support in children
    In: Journal of Pediatric Gastroenterology and Nutrition Jg. 40 (2005) Nr. 1, S. 54 - 59
  • Mellies, Uwe; Stehling, Florian; Dohna-Schwake, Christian; Ragette, Regine; Teschler, Helmut; Voit, Thomas
    Respiratory failure in Pompe disease : treatment with noninvasive ventilation
    In: Neurology Jg. 64 (2005) Nr. 8, S. 1465 - 1467
  • Mellies, Uwe; Dohna-Schwake, Christian; Voit, Thomas
    Respiratory function assessment and intervention in neuromuscular disorders
    In: Current Opinion in Neurology Jg. 18 (2005) Nr. 5, S. 543 - 547
  • Klinge, Lars; Straub, V.; Neudorf, Ulrich; Schaper, J.; Bosbach, T.; Görlinger, Klaus; Wallot, Michael; Richards, S.; Voit, Thomas
    Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease : results of a phase II clinical trial
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 1, S. 24 - 31
  • Klepper, Jörg; Scheffer, H.; Leiendecker, B.; Gertsen, E.; Binder, S.; Leferink, M.; Hertzberg, C.; Näke, A.; Voit, Thomas; Willemsen, M. A.
    Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome : a 2- to 5-year follow-up of 15 children enrolled prospectively
    In: Neuropediatrics Jg. 36 (2005) Nr. 5, S. 302 - 308
  • Torelli, S.; Brown, S. C.; Brockington, M.; Dolatshad, N. F.; Jimenez, C.; Skordis, L.; Feng, L. H.; Merlini, L.; Jones, D. H.; Romero, N.; Wewer, U.; Voit, Thomas; Sewry, C. A.; Noguchi, S.; Nishino, I.; Muntoni, F.
    Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 12, S. 836 - 843
  • Brown, Susan C; Torelli, Silvia; Brockington, Martin; Yuva, Yeliz; Jimenez, Cecilia; Feng, Lucy; Anderson, Louise; Ugo, Isabella; Kroger, Stephan; Bushby, Kate; Voit, Thomas; Sewry, Caroline; Muntoni, Francesco
    Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
    In: The American Journal of Pathology Jg. 164 (2004) Nr. 2, S. 727 - 737
  • Wallot, Michael; Metzger-Boddien, Christoph; Auth, Marcus Karl-Heinz; Kehle, Johannes; Enders, Gisela; Dirsch, Olaf; Fiedler, Melanie; Voit, Thomas
    Acute liver failure associated with Coxsackie virus B2 infection in a neonate
    In: European Journal of Pediatrics Jg. 163 (2004) Nr. 2, S. 116 - 117
  • Amthor, Helge; Egelhof, Thomas; McKinnell, Iain; Ladd (M.), Mark E.; Janssen, Isabelle; Weber, Johannes; Sinn, Hannsjörg; Schrenk, Hans-Hermann; Forsting, Michael; Voit, Thomas; Straub, Volker
    Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI
    In: Neuromuscular Disorders Jg. 14 (2004) Nr. 12, S. 791 - 796
  • Poppe, M.; Bourke, J.; Eagle, M.; Frosk, P.; Wrogemann, K.; Greenberg, C.; Muntoni, F.; Voit, Thomas; Straub, V.; Hilton-Jones, D.; Shirodaria, C.; Bushby, K.
    Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
    In: Annals of Neurology Jg. 56 (2004) Nr. 5, S. 738 - 741
  • Ohtsuka-Tsurumi, E.; Saito, Y.; Yamamoto, T.; Voit, Thomas; Kobayashi, M.; Osawa, M.
    Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system
    In: Developmental Brain Research Jg. 152 (2004) Nr. 2, S. 121 - 127
  • Mercuri, E.; Lampe, A.; Straub, V.; Yuva, Y.; Longman, C.; Wright, M.; Brown, S.; Sewry, C.; Bonnemann, C.; Kinali, M.; Brockington, M.; Hausser, I.; Hilton Jones, D.; Voit, Thomas; Bushby, K.; Muntoni, F.
    Congenital muscular dystrophy with short stature, proximal contractures and distal laxity
    In: Neuropediatrics Jg. 35 (2004) Nr. 4, S. 224 - 229
  • Abel, A.; Fonknechten, N.; Hofer, A.; Dürr, A.; Cruaud, C.; Voit, Thomas; Weissenbach, J.; Brice, A.; Klimpe, S.; Auburger, G.; Hazan, J.
    Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
    In: Neurogenetics Jg. 5 (2004) Nr. 4, S. 239 - 243
  • Klepper, Jörg; Diefenbach, Sonja; Kohlschütter, Alfried; Voit, Thomas
    Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome
    In: Prostaglandins, Leukotrienes and Essential Fatty Acids Jg. 70 (2004) Nr. 3, S. 321 - 327
  • Saito, Y.; Yamamoto, T.; Ohtsuka-Tsurumi, E.; Oka, A.; Mizuguchi, M.; Itoh, M.; Voit, Thomas; Kato, Y.; Kobayashi, M.; Saito, K.; Osawa, M.
    Fukutin expression in mouse non-muscle somatic organs : its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
    In: Brain and Development Jg. 26 (2004) Nr. 7, S. 469 - 479
  • Piao, X.; Hill, R. S.; Bodell, A.; Chang, B. S.; Basel-Vanagaite, L.; Straussberg, R.; Dobyns, W. B.; Qasrawi, B.; Winter, R. M.; Innes, A. M.; Voit, Thomas; Ross, M. E.; Michaud, J. L.; Déscarie, J. C.; Barkovich, A. J.; Walsh, C. A.
    G protein-coupled receptor-dependent development of human frontal cortex
    In: Science Jg. 303 (2004) Nr. 5666, S. 2033 - 2036
  • Oliveira, J. R.; Spiteri, E.; Sobrido, M. J.; Hopfer, S.; Klepper, Jörg; Voit, Thomas; Gilbert, J.; Wszolek, Z. K.; Calne, D. B.; Stoessl, A. J.; Hutton, M.; Manyam, B. V.; Boller, F.; Baquero, M.; Geschwind, D. H.
    Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)
    In: Neurology Jg. 63 (2004) Nr. 11, S. 2165 - 2167
  • Mirzaa, G.; Dodge, N. N.; Glass, I.; Day, C.; Gripp, K.; Nicholson, L.; Straub, V.; Voit, Thomas; Dobyns, W. B.
    Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus : a rare brain malformation syndrome associated with mental retardation and seizures
    In: Neuropediatrics Jg. 35 (2004) Nr. 6, S. 353 - 359
  • Beltran-Valero de Bernabé, D.; Voit, Thomas; Longman, C.; Steinbrecher, A.; Straub, V.; Yuva, Y.; Herrmann, Ralf; Sperner, J.; Korenke, C.; Diesen, C.; Dobyns, W. B.; Brunner, H. G.; van Bokhoven, H.; Brockington, M.; Muntoni, F.
    Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
    In: Journal of Medical Genetics (eJMG) Jg. 41 (2004) Nr. 5, S. e61
  • Meredith, C.; Herrmann, Ralf; Parry, C.; Liyanage, K.; Dye, D. E.; Durling, H. J.; Duff, R. M.; Beckman, K.; de Visser, M.; van der Graaff, M. M.; Hedera, P.; Fink, J. K.; Petty, E. M.; Lamont, P.; Fabian, V.; Bridges, L.; Voit, Thomas; Mastaglia, F. L.; Laing, N. G.
    Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
    In: The American Journal of Human Genetics Jg. 75 (2004) Nr. 4, S. 703 - 708
  • Schröder, J. M.; Hackel, V.; Wanders, R. J.; Göhlich-Ratmann, G.; Voit, Thomas
    Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency
    In: Acta Neuropathologica Jg. 108 (2004) Nr. 2, S. 154 - 167
  • Dohna-Schwake, Christian; Ragette, Regine; Mellies, Uwe; Straub, V.; Teschler, Helmut; Voit, Thomas
    Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I
    In: Neurology Jg. 62 (2004) Nr. 3, S. 513 - 514
  • Mellies, Uwe; Dohna-Schwake, Christian; Stehling, Florian; Voit, Thomas
    Sleep disordered breathing in spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 14 (2004) Nr. 12, S. 797 - 803
  • Muntoni, Francesco; Voit, Thomas
    The congenital muscular dystrophies in 2004 : a century of exciting progress
    In: Neuromuscular Disorders Jg. 14 (2004) Nr. 10, S. 635 - 649
  • Voit, Thomas
    The pediatric neurologist of the 21st century needs an encyclopedic mind
    In: Neuropediatrics Jg. 35 (2004) Nr. 6, S. 319 - 320
  • van Kuilenburg, André B P; Meinsma, Rutger; Beke, Eva; Assmann, Birgit; Ribes, Antonia; Lorente, Isabel; Busch, Rebekka; Mayatepek, Ertan; Abeling, Nico G.; van Cruchten, Arno; Stroomer, Alida; van Lenthe, Henk; Zoetekouw, Lida; Kulik, Willem; Hoffmann, Georg F; Voit, Thomas; Wevers, Ron A; Rutsch, Frank; van Gennip, Albert H
    beta-Ureidopropionase deficiency : an inborn error of pyrimidine degradation associated with neurological abnormalities
    In: Human Molecular Genetics Jg. 13 (2004) Nr. 22, S. 2793 - 2801
  • Muntoni, F.; Valero de Bernabe, B.; Bittner, R.; Blake, D.; van Bokhoven, H.; Brockington, M.; Brown, S.; Bushby, K.; Campbell, K. P.; Fiszman, M.; Gruenewald, S.; Merlini, L.; Quijano-Roy, S.; Romero, N.; Sabatelli, P.; Sewry, C. A.; Straub, Volker; Talim, B.; Topaloglu, H.; Voit, Thomas; Yurchenco, P. D.; Urtizberea, J. A.; Wewer, U. M.; Guicheney, P.
    114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands : (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 579 - 588
  • Tournev, I.; Herrmann, Ralf; Cirak, Sebahattin; Guegueltcheva, V.; Goebel, H.; Ishpekova, B.; Svrakova, L.; Aneva, L.; Petkov, R.; Kamenov, O.; Tzankov, B.; Docheva, P.; Voit, Thomas
    An autosomal recessive distal myopathy with cardiac involvement linked to 9p-q1 in Bulgarian gypsies
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 618 - 618
  • Chang, B. S.; Piao, X.; Bodell, A.; Basel-Vanagaite, L.; Straussberg, R.; Dobyns, W. B.; Qasrawi, B.; Winter, R. M.; Innes, A. M.; Voit, Thomas; Grant, P. E.; Barkovich, A. J.; Walsh, C. A.
    Bilateral frontoparietal polymicrogyria : clinical and radiological features in 10 families with linkage to chromosome 16
    In: Annals of Neurology Jg. 53 (2003) Nr. 5, S. 596 - 606
  • Moghadaszadeh, Behzad; Albrechtsen, Reidar; Guo, Ling T.; Zaik, Michaela; Kawaguchi, Nobuko; Borup, Rehannah H.; Kronqvist, Pauliina; Schroder, Henrik D.; Davies, Kay E.; Voit, Thomas; Nielsen, Finn C.; Engvall, Eva; Wewer, Ulla M.
    Compensation for dystrophin-deficiency : ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins
    In: Human Molecular Genetics Jg. 12 (2003) Nr. 19, S. 2467 - 2479
  • Mellies, Uwe; Ragette, Regine; Schwake, Christian; Boehm, H.; Voit, Thomas; Teschler, Helmut
    Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 2, S. 123 - 128
  • Klepper, Jörg; Flörcken, Anne; Fischbarg, Jorge; Voit, Thomas
    Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
    In: European Journal of Pediatrics Jg. 162 (2003) Nr. 2, S. 84 - 89
  • Schwake, Christian; Mellies, Uwe; Ragette, Regine; Voit, Thomas; Teschler, Helmut
    Hyperinsufflationsassistiertes Hustenmanöver bei neuromuskulären Erkrankungen
    In: Monatsschrift Kinderheilkunde Jg. 151 (2003) Nr. 3, S. 269 - 273
  • Mellies, Uwe; Ragette, Regine; Dohna-Schwake, Christian; Boehm, H.; Voit, Thomas; Teschler, Helmut
    Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders
    In: European Respiratory Journal (ERJ) Jg. 22 (2003) Nr. 4, S. 631 - 636
  • Hunter, M.; Bernard, R.; Freitas, E.; Boyer, A.; Morar, B.; Martins, I. J.; Tournev, I.; Jordanova, A.; Guergelcheva, V.; Ishpekova, B.; Kremensky, I.; Nicholson, G.; Schlotter, B.; Lochmüller, H.; Voit, Thomas; Colomer, J.; Thomas, P. K.; Levy, N.; Kalaydjieva, L.
    Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease
    In: Human Mutation Jg. 22 (2003) Nr. 2, S. 129 - 135
  • Longman, C.; Brockington, M.; Torelli, S.; Jimenez-Mallebrera, C.; Kennedy, C.; Khalil, N.; Feng, L.; Saran, R. K.; Voit, Thomas; Merlini, L.; Sewry, C. A.; Brown, S. C.; Muntoni, F.
    Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    In: Human Molecular Genetics Jg. 12 (2003) Nr. 21, S. 2853 - 2861
  • Mellies, Uwe; Schwake, Christian; Ragette, Regine; Bohm, H.; Teschler, Helmut; Voit, Thomas
    Nichtinvasive Beatmung bei neuromuskulären Erkrankungen
    In: Monatsschrift Kinderheilkunde Jg. 151 (2003) Nr. 3, S. 262 - 268
  • Mellies, Uwe; Dohna-Schwake, Christian; Ragette, Regine; Teschler, Helmut; Voit, Thomas
    Nächtliche nichtinvasive Beatmung bei Kindern und Jugendlichen mit neuromuskulären Erkrankungen : Einfluss auf Schlaf und Symptome
    In: Wiener Klinische Wochenschrift Jg. 115 (2003) Nr. 24, S. 855 - 859
  • Mellies, Uwe; Ragette, Regine; Schwake, Christian; Böhm, H.; Teschler, Helmut; Voit, Thomas
    Progrediente neuromuskuläre Erkrankungen : Chronisches Atemmuskelversagen und schlafbezogene Atmungsstörungen
    In: Monatsschrift Kinderheilkunde Jg. 151 (2003) Nr. 3, S. 256 - 261
  • Klepper, Jörg; Schaper, Jörg; Raca, G.; Coryell, J.; Das, S.; Hayflick, S. J.; Voit, Thomas
    Progressive dystonia in a 12-year-old boy
    In: European Journal of Paediatric Neurology Jg. 7 (2003) Nr. 2, S. 85 - 88
  • Klepper, Jörg; De Vivo, D. C.; Webb, D. W.; Klinge, Lars; Voit, Thomas
    Reversible infantile hypoglycorrhachia : possible transient disturbance in glucose transport?
    In: Pediatric Neurology Jg. 29 (2003) Nr. 4, S. 321 - 325
  • Taniguchi, Kyomi; Kobayashi, Kazuhiro; Saito, Kayoko; Yamanouchi, Hideo; Ohnuma, Akira; Hayashi, Yukiko; Manya, Hiroshi; Jin, Dong Kyu; Lee, Munhyang; Parano, Enrico; Falsaperla, Raffaele; Pavone, Piero; Van Coster, Rudy; Talim, Beril; Steinbrecher, Alice; Straub, Volker; Nishino, Ichizo; Topaloglu, Haluk; Voit, Thomas; Endo, Tamao; Toda, Tatsushi
    Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
    In: Human Molecular Genetics Jg. 12 (2003) Nr. 5, S. 527 - 534
  • Merlini, L.; Estournet-Mathiaud, B.; Iannaccone, S.; Melki, J.; Muntoni, F.; Rudnik-Schöneborn, S.; Topaloglu, H.; Vita, G.; Voit, Thomas
    90th ENMC international workshop : European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 2, S. 201 - 210
  • Muntoni, F.; Bertini, E.; Bönnemann, C.; Brockington, M.; Brown, S.; Bushby, K.; Fiszman, M.; Körner, C.; Mercuri, E.; Merlini, L.; Hewitt, J.; Quijano-Roy, S.; Romero, N.; Squarzoni, S.; Sewry, C. A.; Straub, V.; Topaloglu, H.; Haliloglu, G.; Voit, Thomas; Wewer, U.; Guicheney, P.
    98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 9, S. 889 - 896
  • Ferreiro, Ana; Monnier, Nicole; Romero, Norma B.; Leroy, Jean-Paul; Bönnemann, Carsten; Haenggeli, Charles-Antoine; Straub, Volker; Voss, Wolfgang D.; Nivoche, Yves; Jungbluth, Heinz; Lemainque, Arnaud; Voit, Thomas; Lunardi, Joel; Fardeau, Michel; Guicheney, Pascale
    A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
    In: Annals of Neurology Jg. 51 (2002) Nr. 6, S. 750 - 759
  • Straub, Volker; Ratjen, Felix; Amthor, Helge; Voit, Thomas; Grasemann, Hartmut
    Airway nitric oxide in Duchenne muscular dystrophy
    In: The Journal of Pediatrics Jg. 141 (2002) Nr. 1, S. 132 - 134
  • Voit, Thomas; Parano, E.; Straub, V.; Schröder, J. M.; Schaper, J.; Pavone, P.; Falsaperla, R.; Pavone, L.; Herrmann, Ralf
    Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia : a novel form of CMD
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 623 - 630
  • Kano, H.; Kobayashi, K.; Herrmann, Ralf; Tachikawa, M.; Manya, H.; Nishino, I.; Nonaka, I.; Straub, Volker; Talim, B.; Voit, Thomas; Topaloglu, H.; Endo, T.; Yoshikawa, H.; Toda, T.
    Deficiency of alpha-dystroglycan in muscle-eye-brain disease
    In: Biochemical and Biophysical Research Communications (BBRC) Jg. 291 (2002) Nr. 5, S. 1283 - 1286
  • Voit, Thomas
    Editorial Comment
    In: Neuropediatrics Jg. 33 (2002) Nr. 6, S. 279 - 280
  • Kano, Hiroki; Kobayashi, Kazuhiro; Herrmann, Ralf; Tachikawa, Masaji; Manya, Hiroshi; Nishino, Ikuja; Nonaka, I.; Straub, Volker; Talim, Beril; Voit, Thomas; Topaloglu, Haluk; Endo, T.; Yoshikawa, H.; Toda, Tatsushi
    Erratum to “Deficiency of α-dystroglycan in muscle–eye–brain disease”
    In: Biochemical and Biophysical Research Communications (BBRC) Jg. 293 (2002) Nr. 5, S. 1579 - 1579
  • Klepper, Jörg; Voit, Thomas
    Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome : impaired glucose transport into brain-- a review
    In: European Journal of Pediatrics Jg. 161 (2002) Nr. 6, S. 295 - 304
  • Klepper, Jörg; Leiendecker, B.; Bredahl, R.; Athanassopoulos, S.; Heinen, F.; Gertsen, E.; Flörcken, A.; Metz, A.; Voit, Thomas
    Introduction of a ketogenic diet in young infants
    In: Journal of Inherited Metabolic Disease (JIMD) Jg. 25 (2002) Nr. 6, S. 449 - 460
  • Klinge, Lars; Schaper, J.; Wieczorek, Dagmar; Voit, Thomas
    Microlissencephaly in microcephalic osteodysplastic primordial dwarfism : a case report and review of the literature
    In: Neuropediatrics Jg. 33 (2002) Nr. 6, S. 309 - 313
  • Voit, Thomas
    Muscular dystrophies with contractures as predominant features : clinical syndromes
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 718 - 719
  • Beltrán-Valero de Bernabé, D.; Currier, S.; Steinbrecher, Alice; Celli, J.; van Beusekom, E.; van der Zwaag, B.; Kayserili, H.; Merlini, L.; Chitayat, D.; Dobyns, W. B.; Cormand, B.; Lehesjoki, A. E.; Cruces, J.; Voit, Thomas; Walsh, C. A.; van Bokhoven, H.; Brunner, H. G.
    Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
    In: The American Journal of Human Genetics Jg. 71 (2002) Nr. 5, S. 1033 - 1043
  • Ferreiro, Ana; Quijano-Roy, Susana; Pichereau, Claire; Moghadaszadeh, Behzad; Goemans, Nathalie; Bönnemann, Carsten; Jungbluth, Heinz; Straub, Volker; Villanova, Marcello; Leroy, Jean-Paul; Romero, Norma B; Martin, Jean-Jacques; Muntoni, Francesco; Voit, Thomas; Estournet, Brigitte; Richard, Pascale; Fardeau, Michel; Guicheney, Pascale
    Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease : reassessing the nosology of early-onset myopathies
    In: The American Journal of Human Genetics Jg. 71 (2002) Nr. 4, S. 739 - 749
  • Ragette, Regine; Mellies, Uwe; Dohna-Schwake, Christian; Voit, Thomas; Teschler, Helmut
    Patterns and predictors of sleep disordered breathing in primary myopathies
    In: Thorax Jg. 57 (2002) Nr. 8, S. 724 - 728
  • Takashima, Hiroshi; Boerkoel, Cornelius F.; De Jonghe, Peter; Ceuterick, Chantal; Martin, Jean-Jacques; Voit, Thomas; Schröder, J-Michael; Williams, Anna; Brophy, Peter J.; Timmerman, Vincent; Lupski, James R.
    Periaxin mutations cause a broad spectrum of demyelinating neuropathies
    In: Annals of Neurology Jg. 51 (2002) Nr. 6, S. 709 - 715
  • Vorworte / Nachworte

  • Voit, Thomas
    Editorial Comment
    In: Neuropediatrics Jg. 36 (2005) Nr. 6, S. 351 - 352
  • Abstracts

  • Servais, L.; Mayer, O.; McDonald, C.; Straathof, C.; Schara, Ulrike; Voit, Thomas; Mercuri, E.; Buyse, G.
    P.264 SYROS study – long-term reduction in rate of respiratory function decline in patients with Duchenne muscular dystrophy treated with idebenone
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S144
  • Herrmann, Ralf; Cirak, S.; Campbell, K.P.; Korinthenberg, R.; Roper, H.; Voit, Thomas; Nurnberg, P.; Hurles, M.; Muntoni, F.; Kamynina, A.; Longman, C.; Vondracek, P.; Brodd, L.; Torelli, S.; Elisabeth, S.; Marrosu, G.; Willer, T.; Sewry, C.A.; Foley, R.A.; Plagnol, V.; Yau, M.
    Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies
    In: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 812
  • Voit, Thomas; Cirak, S.; Abraham, S.; Karakesisoglou, I.; Parano, E.; Pavone, P.; Falsaperia, R.; Amthor, H.; Schroeder, J.; Muntoni, F.; Guicheney, P.; Nurnberg, P.; Noegel, A.; Herrmann, Ralf
    Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1) : The third nuclear envelopathy with muscular dystrophy
    In: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 833 - 834
  • Merlim, L.; Basoglu, B.; Dohna-Schwake, Christian; Febrer, A.; Hausmanova-Petrusewicz, I.; Jedrzejowska, M.; Luppi, M.; Shapira, Y.; Taustein, I.; Tizzano, E.; Topaloglu, H.; Voit, Thomas; Talim, B.
    EUROSMART : European spinal muscular atrophy randomised placebo-controlled trial of acetyl-L-carnitine in spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 780 - 781
  • Cirak, Sebahattin; Deimling, F. V.; Herrmann, Ralf; Bonnemann, C.; Prive, G.; Nurnberg, P.; Voit, Thomas
    Ubiquitin-proteasome pathway alteration in distal myopathy due to a mutation in a novel kelch protein
    In: European Journal of Pediatrics Jg. 166 (2007) Nr. 3, S. 290
  • Amthor, Helge; Schuelke, M.; Otto, A.; Patel, K.; Partridge, T.; Voit, Thomas; Zammit, P.
    Lack of myostatin results in satellite independent muscle fibre hypertrophy and mitochondrial depletion
    In: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 724
  • Senderek, J.; Krieger, M.; Stendel, C.; North, K.; Muntoni, F.; Quijano-Roy, S.; Ebinger, F.; Schroder, J. M.; Voit, Thomas; Weis, J.; Topaloglu, H.; Zerres, K.
    Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
    In: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 683 - 683
  • Cirak, Sebahattin; Klepper, Jörg; Abunada, M.; Rodenburg, R.; Stehling, Florian; Herrmann, Ralf; Schroder, J. M.; Smeitink, J.; Nuernberg, P.; Voit, Thomas
    Novel nuclear encoded autosomal recessive mitochondriopathy
    In: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 660 - 660
  • Voit, Thomas
    The increasing spectrum of Congenital Muscular Dystrophies
    In: Neuromuscular Disorders Jg. 16 (2006) Nr. Suppl. 1, S. 144
  • Mercuri, E.; Topaloglu, H.; Brockington, M.; Berardinelli, A.; Santorelli, F.; Rutherford, M.; Talim, B.; Ricci, E.; Voit, Thomas; Muntoni, F.
    The spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
    In: Developmental Medicine & Child Neurology Jg. 48 (2006) Nr. Suppl. 104, S. 6
  • Cirak, Sebahattin; von Deimling, F.; Hinderlich, S.; Sandri, M.; Boennemann, C.; Hoffmann, K.; Lindner, T.; Stembrecher, A.; Herrmann, Ralf; Nuernberg, P.; Voit, Thomas
    A Kelch protein is mutated in a novel amosomal dominant distal myopathy
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 717 - 717
  • Wallot, N. A.; Fiedler, M.; Nadalin, Silvio; Voit, Thomas
    Disseminated adenovirus infection and ARDS in pediatric liver transplant recipients : Impact of intravenous cidofovir and inhaled nitric oxide
    In: Pediatric Transplantation Jg. 9 (2005) Nr. Suppl. 6, S. 72
  • Merlini, L.; Dohna-Schwake, Christian; Febrer, A.; Hausmanova-Petruse, I.; Jedrzejonska, M.; Shapira, Y.; Taustein, I.; Luppi, M.; Tizzano, E.; Topaloglu, H.; Voit, Thomas; Talim, B.
    EUROSMART : motor function and muscle strength in 110 patients with spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 724
  • Tournev, I.; Cirak, S.; Herrmann, Ralf; Guergueltcheva, V.; Goebel, H.; Chandler, D.; Ishpekova, B.; Petkov, R.; Tzekov, H.; Aneva, L.; Raychev, R.; Docheva, P.; Kalaydjieva, L.; Voit, Thomas
    Hereditary inclusion body myopathy in Bulgarian gypsies
    In: European Journal of Neurology Jg. 12 (2005) Nr. Suppl. 2, S. 282
  • Lamont, P. J.; Udd, B.; Mastaglia, F. L.; de Visser, M.; Hedera, P.; Voit, Thomas; Bridges, L.; Fabian, V.; Rozemuller, A.; Laing, N. G.
    Laing early-onset distal myopathy - consistent clinical phenotype with variable abnormalities on muscle biopsy
    In: Journal of the Neurological Sciences Jg. 238 (2005) Nr. Suppl. 1, S. S164 - S165
  • Hoogendijk, J. E.; Herrmann, Ralf; Eagle, M.; Roberts, M. E.; Voit, Thomas; Bushby, KMD; Straub, V.
    Limb girdle muscular dystrophies - Dominant forms
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 677 - 678
  • Vainzof, M.; Richard, P.; Herrmann, Ralf; Jimenez-Mallebrera, C.; Talim, B.; Yamamoto, L. U.; Ledeuil, C.; Mein, R.; Abbs, S.; Brockington, M.; Romero, N.; Zatz, M.; Topaloglu, H.; Voit, Thomas; Sewry, C.; Muntoni, F.; Guicheney, P.; Tome, FMS
    Prenatal diagnosis in laminin alpha-2 chain (merosin)-deficient congenital muscular dystrophy : a collective experience of 5 international centers
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 704 - 704
  • Gonzalez, V.; Quijano-Roy, S.; Parain, K.; Bonnemann, C.; Bushby, K.; Castiglioni, C.; Ceuterick, C.; Chaigne, D.; Colomer, J.; Desguerre, I.; de Visser, M.; Elcioglu, N.; Eymard, B.; Fidzianska, A.; Goemans, N.; Jungbluth, H.; Kaindl, A. M.; Labarre-Vila, A.; Leroy, J. P.; Lochmuller, H.; Mayer, M.; Martin, J. J.; Muntoni, F.; Merlini, L.; Pellegrini, N.; Quinlivan, R.; Romero, N. B.; Sewry, C.; Topaloglu, H.; Toutain, A.; Urtizberea, A.; van der Kooi, A.; Viollet, L.; Voit, Thomas; Estournet, B.; Richard, P.; Guicheney, P.; Ferreiro, A.
    SEPN-related myopathy : an emerging entity phenotypical and molecular analysis of 80 cases
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 715 - 715
  • Mercuri, E.; Topaloglu, H.; Brockington, M.; Berardinelli, A.; Pichiecchio, A.; Santorelli, F. M.; Ricci, E.; Rutherford, M.; Voit, Thomas; Muntoni, F.
    The spectrum of brain malformations in patients with FKRP gene mutations
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 715 - 716
  • Herrmann, Ralf; Ratke, J.; Kutzick, C.; Anderson, L.; Barrow, M.; Voit, Thomas; Bushby, K.; Straub, V.
    A new mutation in the transmembrane domain of Caveolin-3 in a patient with percussion-induced rapid muscle contractions
    In: Neuromuscular Disorders Jg. 14 (2004) Nr. 8-9, S. 606 - 607
  • Kishnani, P.; Nicolino, M.; Voit, Thomas; Tsai, C.; Herman, G.; Waterson, J.; Rogers, R.; Levine, J.; Amalfitano, A.; Charrow, J.; Tiller, G.; Schaefer, B.; Kolodny, E.; Corzo, D.; Chen, Y. T.
    Enzyme replacement therapy (ERT) for infantile onset Pompe disease : long term follow-up results
    In: Genetics in Medicine Jg. 6 (2004) Nr. 4, S. 268
  • Kishnani, P.; Nicolino, M.; Voit, Thomas; Tsai, C. H.; Herman, G.; Waterson, J.; Rogers, R. C.; Levine, J.; Amalfitano, A.; Charrow, J.; Tiller, G.; Schaefer, B.; Kolodny, E.; Corzo, D.; Chen, Y. T.
    Enzyme replacement therapy for infantile onset Pompe disease : long term follow-up results
    In: Molecular Genetics and Metabolism Jg. 81 (2004) Nr. 3, S. 169 - 169
  • Dohna-Schwake, Christian; Mellies, Uwe; Stehling, Florian; Voit, Thomas
    Intermittent positive pressure breathing (IPPB) improves peak cough flow in pediatric neuromuscular disorders
    In: Neuromuscular Disorders Jg. 14 (2004) Nr. 8-9, S. 598 - 598
  • Brunn, A.; Ratke, J.; Herrmann, Ralf; Voit, Thomas
    Two novel heterozygous mutations in collagen VI alpha 3 gene leading to Ullrich Congenital Muscular Dystrophy
    In: Acta Neuropathologica Jg. 108 (2004) Nr. 4, S. 363 - 364
  • Brunn, A.; Ratke, J.; Herrmann, Ralf; Voit, Thomas
    Ullrich congenital muscular dystrophy caused by two novel mutations in COL6A3
    In: Neuromuscular Disorders Jg. 14 (2004) Nr. 8-9, S. 615 - 615
  • Meredith, C.; Parry, C.; Herrmann, Ralf; Voit, Thomas; Durling, H.
    Amino-acid variations in the tail region of the beta cardiac myosin heavy chain gene (MYH7) associated with childhood onset distal myopathy (MPD1)
    In: HOMO: Journal of Comparative Human Biology Jg. 54 (2003) Nr. 1, S. 78
  • Vajsar, J.; Cao, P.; Breningstall, G.; Diesen, C.; Dobyns, W.; Herrmann, Ralf; Steinbrecher, A.; Lehesjoki, A. E.; Talim, B.; Toda, T.; Topaloglu, H.; Voit, Thomas; Zhang, W.; Biggar, D.; Hawkins, C.
    Biochemical-genotype/phenotype correlation in muscle-eye-brain disease
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 637 - 637
  • Dohna-Schwake, Christian; Mellies, Uwe; Ragette, Regine; Straub, Volker; Teschler, Helmut; Voit, Thomas
    Comparison of respiratory function in different subgroups of congenital muscular dystrophy
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 656 - 656
  • Kishnani, P.; Voit, Thomas; Nicolino, M.; Tsai, C. H.; Herman, G.; Waterson, J.; Rogers, R. C.; Levine, J.; Amalfitano, A.; Landy, H.; Corzo, D.; Thurberg, B.; Richards, S.; Chen, Y. T.
    Enzyme replacement therapy with recombinant human acid alpha glucosidase (rhGAA) in infantile Pompe disease (IPD) : Results from a Phase 2 study
    In: Pediatric Research Jg. 53 (2003) Nr. 4, Suppl., S. 259A
  • Ben Yaou, R.; Richard, P.; Demay, L.; Merlini, L.; Muntoni, F.; Talim, B.; Toniolo, D.; Van der Kooi, A. J.; de Visser, M.; Voit, Thomas; Wehnert, M. S.; Urtizberea, J. A.; Eymard, B.; Recan, D.; Bonne, G.
    Lamin A/C gene related disorders : the EUROMEN consortium experience
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 657 - 657
  • Steinbrecher, A.; Vajsar, J.; Grieben, U.; Sperner, J.; Straub, Volker; Kobayashi, K.; Herrmann, Ralf; Toda, T.; Voit, Thomas
    Mild muscle-eye-brain disease is compatible with preserved vision and normal-appearing supra- but not infratentorial brain structures on MRI
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 637 - 637
  • Toda, T.; Taniguchi, K.; Kobayashi, K.; Saito, K.; Yamanouchi, H.; Ohnuma, A.; Hayashi, Y. K.; Jin, D. K.; Parano, E.; van Coster, R.; Steinbrecher, A.; Straub, Volker; Nishino, I.; Topaloglu, H.; Voit, Thomas; Endo, T.
    Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
    In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 636 - 636
  • Tournev, L.; Herrmann, Ralf; Guergueltcheva, V.; Goebel, H.; Ishpekova, B.; Svrakova, L.; Aneva, L.; Petkov, R.; Kamenov, O.; Tzankov, B.; Docheva, P.; Voit, Thomas
    A novel autosomal recessive distal myopathy in Bulgarian gypsies
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 720 - 720
  • Herrmann, Ralf; Hertel, S.; Kutzick, C.; Straub, Volker; Voit, Thomas
    A novel caveolin-3 mutation in autosomal dominant rippling muscle disease
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 723 - 723
  • Kobayashi, K.; Taniguchi, K.; Saito, K.; Yamauchi, H.; Jin, D. K.; Parano, E.; Coster, R. V.; Topaloglu, H.; Voit, Thomas; Endo, T.; Toda, T.
    A worldwide distribution and a broader clinical spectrum of muscle-eye-brain disease : a genotype-phenoltype correlation
    In: The American Journal of Human Genetics Jg. 71 (2002) Nr. Suppl. 4, S. 519
  • Mellies, Uwe; Ragette, Regine; Schwake, Christian; Teschler, Helmut; Voit, Thomas
    Daytime predictors of nocturnal hypoventilation in children with progressive neuromuscular diseases
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 32
  • Kano, H.; Kobayashi, K.; Herrmann, Ralf; Voit, Thomas; Topaloglu, H.; Endo, T.; Toda, T.
    Deficiency of -dystroglycan in muscle-eye-brain disease
    In: The American Journal of Human Genetics Jg. 71 (2002) Nr. Suppl. 4, S. 518
  • Ferreiro, A.; Monnier, N.; Romero, N. B.; Leroy, J. P.; Bonneman, C.; Straub, V.; Haenggeli, C. A.; Voit, Thomas; Lunardi, J.; Fardeau, M.; Guicheney, P.
    First description of a recessive form of Central Core Disease, transitorily presenting as Multi-minicore Disease and associated with a homozygous mutation in RYR1
    In: European Journal of Human Genetics Jg. 10 (2002) Nr. Suppl. 1, S. 247
  • Brockington, M.; Yuva, Y.; Torelli, S.; Sewry, C. A.; Mercuri, E.; Brown, S. B.; Muntoni, F.; Blake, D. J.; Bushby, K.; Voit, Thomas
    Limb girdle muscular dystrophy 21 is predominantly associated with a Leu276Ile mutation in the fukutin related-protein gene
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. S89 - S90
  • Mellies, Uwe; Ragette, Regine; Schwake, Christian; Teschler, Helmut; Voit, Thomas
    Long-term effects of noninvasive ventilation in children with neuromuscular diseases
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 6
  • Kobayashi, K.; Taniguchi, K.; Kano, H.; Toda, T.; Yoshida, A.; Manya, H.; Endo, T.; Voit, Thomas; Topaloglu, H.
    Muscle-eye-brain disease caused by mutations in a glycosyltransferase, POMGnT, and selective deficiency of alpha-dystroglycan
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 35
  • Steinbrecher, A.; Herrmann, Ralf; Straub, Volker; Grieben, U.; Sperner, J.; Eckel, U.; Taniguchi, K.; Kobayashi, K.; Toda, T.; Vajsar, J.; Wewer, U. M.; Voit, Thomas
    Muscle-eye-brain-like disease with abnormal expression of alpha-dystroglycan not caused by mutations in POMGnT1 gene
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 105
  • Schroers, A.; Zange, J. Z.; Majidian, F.; Burwinkel, B.; Kubisch, C.; Schroder, R.; Voit, Thomas; Malin, J. P.; Kilimann, M. W.; Vorgerd, M.
    Mutational analysis and non-invasive diagnosis in McArdle's disease
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 752 - 752
  • Steinbrecher, A.; Herrmann, Ralf; Straub, Volker; Stoltenburg-Didinger, G.; Voit, Thomas
    Neuropathological findings of fetal tissues in Walker-Warburg syndrome
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 744 - 744
  • von Deimling, F.; Hoffmann, K.; Lindner, T.; Bonnemann, C.; Herrmann, Ralf; Steinbrecher, A.; Brockmann, K.; Voit, Thomas; Nuernberg, P.
    New form of autosomal dominant distal myopathy with childhood onset with linkage to a new locus
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 768 - 768
  • Straub, Volker; Herrmann, Ralf; Hertel, S.; Taniguchi, K.; Kobayashi, K.; Toda, T.; Voit, Thomas
    Prenatal diagnosis in a family with muscle-eye-brain disease
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 743 - 744
  • Ferreiro, A.; Quijano-Roy, S.; Pichereau, C.; Moghadaszadeh, B.; Goemans, NMLA; Bonnemann, C.; Jungbluth, H.; Straub, V.; Villanova, M.; Leroy, J. P.; Romero, N. B.; Martin, J. J.; Richard, P.; Muntoni, F.; Voit, Thomas; Estournet, B.; Fardeau, M.; Guicheney, P.
    SEPN1 mutations cause classical multi-minicore disease : reappraising the nosology of early-onset myopathies
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 720 - 720
  • Klinge, Lars; Straub, Volker; Neudorf, Ulrich; Görlinger, Klaus; Dittmar, E.; Voit, Thomas
    Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 29
  • Klinge, Lars; Straub, Volker; Neudorf, Ulrich; Görlinger, Klaus; Voit, Thomas
    Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease
    In: European Journal of Human Genetics Jg. 10 (2002) Nr. Suppl. 1, S. 301
  • Klinge, Lars; Straub, Volker; Neudorf, Ulrich; Görlinger, Klaus; Dittmar, E.; Voit, Thomas
    Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 761 - 761
  • Straub, Volker; Amthor, H.; Weber, J.; Voit, Thomas; Forsting, Michael; Egelhof, T.
    Skeletal muscle fiber damage in dystrophic mice detected by contrast agent-enhanced MRI
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 49
  • Kutzick, C.; Herrmann, Ralf; Neumann, B.; Kawaguchi, N.; Straub, Volker; Zaik, M.; Wewer, U.; Voit, Thomas
    Tissue distribution and subcellular localization of zeta-sarcoglycan
    In: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 733 - 733
  • Kutzick, C.; Herrmann, Ralf; Neumann, B.; Straub, Volker; Zaik, M.; Kawaguchi, N.; Wewer, U. M.; Voit, Thomas
    Tissue distribution of zeta-sarcoglycan, a novel member of the sarcoglycan family
    In: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 84
  • Kishnani, P.; Voit, Thomas; Nicolino, M.; Amalfitano, A.; Tsai, C. H.; Herman, G.; Waterson, J.; Rogers, R. C.; Landy, H.; Corzo, D.; Thurberg, B.; Richards, S.; Yong, F. H.; Chen, Y. T.
    Treatment of classical infantile Pompe Disease(CIPD) with recombinant human acid alpha Glucosidase(rhGAA) : Preliminary 6 month data from a phase 2 study
    In: The American Journal of Human Genetics Jg. 71 (2002) Nr. Suppl. 4, S. 582