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Dipl.-Biol. Ralf Herrmann

Funktionen

  • Mitglied/er, Klinik für Allgemeine Pädiatrie mit Schwerpunkt Neuropädiatrie

Aktuelle Veranstaltungen

Keine aktuellen Veranstaltungen.

Vergangene Veranstaltungen (max. 10)

Keine vergangenen Veranstaltungen.

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

  • Subramaniam, Nirojah; Bottek, Jenny; Thiebes, Stephanie; Zec, Kristina; Kudla, Matthias; Soun, Camille; Panal, Elena De Dios; Lill, Julia K.; Pfennig, Aaron; Herrmann, Ralf; Bruderek, Kirsten; Rahmann, Sven; Brandau, Sven; Johansson, Patricia; Reinhardt, Christian; Dürig, Jan; Seiffert, Martina; Bracht, Thilo; Sitek, Barbara; Engel, Daniel Robert
    Proteomic and bioinformatic profiling of neutrophils in CLL reveals functional defects that predispose to bacterial infections
    In: Blood Advances Jg. 5 (2021) Nr. 5, S. 1259 - 1272
    Online Volltext: dx.doi.org/ (Open Access)
  • Serdar, Meray; Kempe, Karina; Herrmann, Ralf; Picard, Daniel; Remke, Marc; Herz, Josephine; Bendix, Ivo; Felderhoff-Müser, Ursula; Sabir, Hemmen
    Involvement of CXCL1/CXCR2 During Microglia Activation Following Inflammation-Sensitized Hypoxic-Ischemic Brain Injury in Neonatal Rats
    In: Frontiers in Neurology Jg. 11 (2020) S. 540878
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Dewan, Monia Vanessa; Herrmann, Ralf; Schweiger, Bernd; Sirin, Selma; Müller, Hanna; Storbeck, Tobias; Dransfeld, Frauke; Felderhoff-Müser, Ursula; Hüning, Britta Maria
    Are Simple Magnetic Resonance Imaging Biomarkers Predictive of Neurodevelopmental Outcome at Two Years in Very Preterm Infants?
    In: Neonatology Jg. 116 (2019) Nr. 4, S. 331 - 340
    Online Volltext: dx.doi.org/
  • Grasemann, Corinna; Herrmann, Ralf; Starschinova, Julia; Gertsen, M.; Palmert, Mark R.; Grasemann, Hartmut
    Effects of fetal exposure to high-fat diet or maternal hyperglycemia on L-arginine and nitric oxide metabolism in lung
    In: Nutrition and Diabetes Jg. 7 (2017) S. e244
    Online Volltext: dx.doi.org/ (Open Access)
  • Grasemannn, Corinna; Unger, Nicole; Hövel, Matthias; Arweiler-Harbeck, Diana; Herrmann, Ralf; Schündeln, Michael; Müller, Oliver; Schweiger, Bernd; Lausch, Ekkehart; Meissner, Thomas; Kiewert, Cordula; Hauffa, Berthold; Shaw, Nick J
    Loss of Functional Osteoprotegerin : More Than a Skeletal Problem
    In: The Journal of Clinical Endocrinology & Metabolism (JCEM) Jg. 102 (2017) Nr. 1, S. 210 - 219
    Online Volltext: dx.doi.org/
  • Schündeln, Michael; Bader, Lena; Kiewert, Cordula; Herrmann, Ralf; Führer, Dagmar; Hauffa, Berthold; Grasemann, Corinna
    Plasma concentrations of osteocalcin are associated with the timing of pubertal progress in boys
    In: Journal of Pediatric Endocrinology and Metabolism (JPEM) Jg. 30 (2017) Nr. 2, S. 141 - 147
    Online Volltext: dx.doi.org/
  • Serdar, Meray; Herz, Josephine; Kempe, Karina; Lumpe, Katharina; Reinboth, Barbara S.; Sizonenko, Stéphane V.; Hou, Xinlin; Herrmann, Ralf; Hadamitzky, Martin; Heumann, Rolf; Hansen, Wiebke; Sifringer, Marco; van de Looij, Yohan; Felderhoff-Müser, Ursula; Bendix, Ivo
    Fingolimod protects against neonatal white matter damage and long-term cognitive deficits caused by hyperoxia
    In: Brain, Behavior and Immunity Jg. 52 (2016) S. 106 - 119
    Online Volltext: dx.doi.org/ (Open Access)
  • Lechtermann, Carolin; Hauffa, Berthold; Herrmann, Ralf; Schündeln, Michael; Gellhaus, Alexandra; Schmidt, Markus; Grasemann, Corinna
    Maternal Vitamin D Status in Preeclampsia : Seasonal Changes Are Not Influenced by Placental Gene Expression of Vitamin D Metabolizing Enzymes
    In: PLoS ONE Jg. 9 (2014) Nr. 8, S. e105558
    Online Volltext: dx.doi.org/ (Open Access)
  • Serdar, M.; Kempe, K.; Lumpe, K.; Reinboth, B. S.; Hou, X. L.; Herrmann, Ralf; Sifringer, M.; Felderhoff-Muser, U.; Bendix, Ivo; Herza, J.
    Sphingosin-1-phosphate-receptor modulation reduces hyperoxia mediated brain injury
    In: Journal of Neuroimmunology Jg. 275 (2014) Nr. 1-2, S. 114
    Online Volltext: dx.doi.org/
  • Karen, Tanja; Schlager, Gerald W.; Bendix, Ivo; Sifringer, Marco; Herrmann, Ralf; Pantazis, Christos; Enot, David; Keller, Matthias; Kerner, Thoralf; Felderhoff-Müser, Ursula
    Effect of Propofol in the Immature Rat Brain on Short- and Long-Term Neurodevelopmental Outcome
    In: PLoS ONE Jg. 8 (2013) Nr. 5, S. e64480
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Grasemann, Corinna; Schündeln, Michael; Hövel, Matthias; Schweiger, Bernd; Bergmann, Christoph; Herrmann, Ralf; Wieczorek, Dagmar; Zabel, Bernhard; Wieland, Regina; Hauffa, Berthold
    Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile paget's disease
    In: The Journal of Clinical Endocrinology & Metabolism (JCEM) Jg. 98 (2013) Nr. 8, S. 3121 - 3126
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/ (Open Access)
  • 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
    Online Volltext: dx.doi.org/
  • Grasemann, Corinna; Devlin, Maureen J.; Rzeczkowska, Paulina A.; Herrmann, Ralf; Horsthemke, Bernhard; Hauffa, Berthold; Grynpas, Marc; Alm, Christina; Bouxsein, Mary L.; Palmert, Mark R.
    Parental Diabetes : The Akita Mouse as a Model of the Effects of Maternal and Paternal Hyperglycemia in Wildtype Offspring
    In: PLoS ONE Jg. 7 (2012) Nr. 11, S. e50210
    Online Volltext: dx.doi.org/ (Open Access)
  • 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
    Online Volltext: dx.doi.org/ (Open Access)
  • Keller, M; Karen, T; Schlager, G W; Prager, S; Felderhoff-Müser, Ursula; Bendix, Ivo; Herrmann, Ralf; Sifringer, M; Pantazis, C
    Impact of Experimental Neonatal Propofol Anaesthesia on Neurodevelopmental Short- and Long-Term Outcome
    In: Pediatric Research Jg. 70 (2011) S. 31 - 31
    Online Volltext: dx.doi.org/
  • Pantazis, Christos; Bendix, Ivo; Herrmann, Ralf; Karen, Tanja; Schlager, Gerald; Keller, Matthias; Felderhoff-Müser, Ursula
    113 The Apoptotic Effect of Propofol in Immature Rat Brain and Possible Neuroprotection by Erythropoietin
    In: Pediatric Research Jg. 68 (2010) Nr. Suppl. 1, S. 60 - 60
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/ (Open Access)
  • Wawrzik, M.; Spiess, A. N.; Herrmann, Ralf; Buiting, Karin; Horsthemke, Bernhard
    Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis
    In: European Journal of Human Genetics Jg. 17 (2009) Nr. 11, S. 1463 - 1470
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/ (Open Access)
  • 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
  • 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
    Online Volltext: dx.doi.org/
  • Kalaydjieva, L.; Lochmüller, H.; Tournev, I.; Baas, F.; Beres, J.; Colomer, J.; Guergueltcheva, V.; Herrmann, Ralf; Karcagi, V.; King, R.; Miyata, T.; Müllner-Eidenböck, A.; Okuda, T.; Milic Rasic, V.; Santos, M.; Talim, B.; Vilchez, J.; Walter, M.; Urtizberea, A.; Merlini, L.
    125th ENMC International Workshop : Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands
    In: Neuromuscular Disorders Jg. 15 (2005) Nr. 1, S. 65 - 71
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/ (Open Access)
  • 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
    Online Volltext: dx.doi.org/ (Open Access)
  • 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
  • Mercuri, E.; Brockington, M.; Straub, Volker; Quijano-Roy, S.; Yuva, Y.; Herrmann, Ralf; Brown, S. C.; Torelli, S.; Dubowitz, V.; Blake, D. J.; Romero, N. B.; Estournet, B.; Sewry, C. A.; Guicheney, P.; Voit, T.; Muntoni, F.
    Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    In: Annals of Neurology Jg. 53 (2003) Nr. 4, S. 537 - 542
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/

    • Abstracts

  • 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
    Online Volltext: dx.doi.org/
  • 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
    Online Volltext: dx.doi.org/
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
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