Author Brockmann, Knut

• 2005 | Journal Article
  ​ ​Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha​
  Brockmann, K.; Stolpe, S.; Fels, C.; Khan, N.; Kulozik, A. E. & Pekrun, A.​ (2005) 
  Journal of Pediatric Hematology/Oncology, 27(8) pp. 436​-440​.​ DOI: https://doi.org/10.1097/01.mph.0000175409.21342.ea 
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• 2005 | Journal Article
  ​ ​X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene​
  Brockmann, K.; Dumitrescu, A. M.; Best, T. T.; Hanefeld, F. & Refetoff, S.​ (2005) 
  Journal of Neurology, 252(6) pp. 663​-666​.​ DOI: https://doi.org/10.1007/s00415-005-0713-3 
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• 2005 | Journal Article
  ​ ​Malignant ectomesenchymoma of the cerebrum. Case report and discussion of therapeutic options​
  Weiss, E.; Albrecht, C. F.; Herms, J.; Behnke-Mursch, J.; Pekrun, A.; Brockmann, K. & Hess, C. F.​ (2005) 
  European Journal of Pediatrics, 164(6) pp. 345​-349​.​ DOI: https://doi.org/10.1007/s00431-005-1646-7 
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• 2005 | Journal Article
  ​ ​Quantitative proton MRS of Pelizaeus-Merzbacher disease - Evidence of dys- and hypomyelination​
  Hanefeld, F.; Brockmann, K.; Pouwels, P. J. W.; Wilken, B.; Frahm, J. & Dechent, P.​ (2005) 
  Neurology, 65(5) pp. 701​-706​.​ DOI: https://doi.org/10.1212/01.wnl.0000174642.32187.20 
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• 2006 | Journal Article
  ​ ​Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces​
  Groeschel, S.; Brockmann, K.; Dechent, P.; Wilichowski, E.; Frahm, J. & Hanefeld, F.​ (2006) 
  Pediatric Neurology, 34(1) pp. 35​-40​.​ DOI: https://doi.org/10.1016/j.pediatrneurol.2005.05.012 
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• 2007 | Conference Abstract
  ​ ​Paroxysmal exertion-induced dyskinesia, hemolytic anemia and epilepsy: a novel syndrome caused by the combination of an energy deficit and electrolyte shift​
  Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Blazevic, D. & Pekrun, A. et al.​ (2007)
  Epilepsia, 48 pp. 9​-10. ​5th Joint Meeting of the German, Austrian, and Swiss Sections of the International League Against Epilepsy​, Basle, SWITZERLAND.
  Oxford​: Blackwell Publishing.
  ​Details  WoS 

• 2007 | Conference Abstract
  ​ ​Paroxysmal exertion-induced dyskinesia, haemolytic anaemia and epilepsy: Energy deficit and electrolyte shift​
  Weber, Y.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Pekrun, A.; Kempfle, J. & Lehmann-Horn, F.​ (2007)
  Epilepsia, 48 ​27th International Epilepsy Congress​, Singapore, SINGAPORE.
  Oxford​: Blackwell Publishing.
  ​Details  WoS 

• 2007 | Review
  ​ ​Valproic acid-induced pancreatitis: 16 new cases and a review of the literature​
  Gerstner, T.; Buesing, D.; Bell, N.; Longin, E.; Kasper, J.-M.; Klostermann, W.& Hebing, B. et al.​ (2007)
  Journal of Gastroenterology, 42​(1) pp. 39​-48​.​
  Tokyo​: Springer. DOI: https://doi.org/10.1007/s00535-006-1961-4 
  ​Details  DOI  PMID  PMC  WoS 

• 2007 | Journal Article
  ​ ​Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood​
  Brockmann, K.; Becker, P.; Schreiber, G.; Neubert, K.; Brunner, E. & Boennemann, C.​ (2007) 
  Neuromuscular Disorders, 17(7) pp. 517​-523​.​ DOI: https://doi.org/10.1016/j.nmd.2007.03.015 
  ​Details  DOI  PMID  PMC  WoS 

• 2007 | Journal Article
  ​ ​Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy​
  Groeschel, S.; Brockmann, K. & Hanefeld, F.​ (2007) 
  European Journal of Paediatric Neurology, 11(3) pp. 142​-145​.​ DOI: https://doi.org/10.1016/j.ejpn.2006.11.014 
  ​Details  DOI  PMID  PMC  WoS 

• 2007 | Journal Article
  ​ ​Quantitative proton MRS of cerebral metabolites in laminin alpha 2 chain deficiency​
  Brockmann, K.; Dechent, P.; Boennemann, C.; Schreiber, G.; Frahm, J. & Hanefeld, F.​ (2007) 
  Brain and Development, 29(6) pp. 357​-364​.​ DOI: https://doi.org/10.1016/j.braindev.2006.11.003 
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• 2007 | Journal Article
  ​ ​Hypomyelination with atrophy of the basal ganglia and cerebellum - Follow-up and pathology​
  van der Knaap, M. S.; Linnankivi, T.; Paetau, A.; Feigenbaum, A.; Wakusawa, K.; Haginoya, K. & Kohler, W. et al.​ (2007) 
  Neurology, 69(2) pp. 166​-171​.​ DOI: https://doi.org/10.1212/01.wnl.0000265592.74483.a6 
  ​Details  DOI  PMID  PMC  WoS 

• 2008 | Journal Article
  ​ ​Monozygotic twins discordant for Proteus syndrome​
  Brockmann, K.; Happle, R.; Oeffner, F. & Koenig, A.​ (2008) 
  American Journal of Medical Genetics Part A, 146A(16) pp. 2122​-2125​.​ DOI: https://doi.org/10.1002/ajmg.a.32417 
  ​Details  DOI  PMID  PMC  WoS 

• 2008 | Journal Article
  ​ ​GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak​
  Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Maljevic, S. & Margari, L. et al.​ (2008) 
  Journal of Clinical Investigation, 118(6) pp. 2157​-2168​.​ DOI: https://doi.org/10.1172/JCI34438 
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• 2008 | Journal Article
  ​ ​Frequency of GCH1 deletions in dopa-responsive dystonia​
  Zirn, B.; Steinberger, D.; Troidl, C.; Brockmann, K.; von der Hagen, M.; Feiner, C. & Henkel, A. et al.​ (2008) 
  Journal of Neurology Neurosurgery & Psychiatry, 79(2) pp. 183​-186​.​ DOI: https://doi.org/10.1136/jnnp.2007.128413 
  ​Details  DOI  PMID  PMC  WoS 

• 2009 | Conference Abstract
  ​ ​PAROXYSMAL EXERTION-INDUCED DYSKINESIA, HEMOLYTIC ANEMIA AND EPILEPSY: ENERGY DEFICIT AND ELECTROLYTE SHIFT​
  Storch, A.; Weber, Y.; Wuttke, T. V.; Brockmann, K.; Pekrun, A.; Kempfle, J. & Lehmann-Horn, F. et al.​ (2009)
  Epilepsia, 50 pp. 74​-75. , Berlin, GERMANY.
  Malden​: Wiley-blackwell Publishing, Inc.
  ​Details  WoS 

• 2009 | Conference Abstract
  ​ ​GLUT1 MUTATIONS IN PATIENTS WITH PAROXYSMAL EXERTION-INDUCED DYSKINESIA​
  Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Maljevic, S. & Margari, L. et al.​ (2009)
  Epilepsia, 50 ​6th Joint Meeting of the German, Austrian, and Swiss Sections of the International-League-Against-Epilepsy​, Rostock, GERMANY.
  Malden​: Wiley-blackwell Publishing, Inc.
  ​Details  WoS 

• 2009 | Conference Paper
  ​ ​The expanding phenotype of GLUT1-deficiency syndrome​
  Brockmann, K.​ (2009)
  Brain and Development, 31(7) pp. 545​-552. ​3rd German-Japanese Symposium on Pediatric Neurology​, Munich, GERMANY.
  Amsterdam​: Elsevier Science Bv. DOI: https://doi.org/10.1016/j.braindev.2009.02.008 
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• 2009 | Journal Article
  ​ ​Overlap of Moebius and Oromandibular Limb Hypogenesis Syndrome With Gastroschisis and Pulmonary Hypoplasia​
  Brockmann, K.; Backes, H.; Auber, B.; Kriebel, T.; Stellmer, F. & Zoll, B.​ (2009) 
  American Journal of Medical Genetics Part A, 149A(12) pp. 2832​-2837​.​ DOI: https://doi.org/10.1002/ajmg.a.33111 
  ​Details  DOI  PMID  PMC  WoS 

• 2009 | Journal Article | 
  ​ ​Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation​
  Auber, B.; Bruemmer, V.; Zoll, B.; Burfeind, P.; Boehm, D.; Liehr, T. & Brockmann, K. et al.​ (2009) 
  Molecular Cytogenetics, 2 art. 10​.​ DOI: https://doi.org/10.1186/1755-8166-2-10 
  ​Details  DOI  PMID  PMC  WoS 

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