Author Brockmann, Knut

• 2001 | Journal Article
  ​ ​Endocrinological study on growth retardation in Rett syndrome​
  Huppke, P.; Roth, C.; Christen, H.-J.; Brockmann, K. & Hanefeld, F.​ (2001) 
  Acta Paediatrica, 90(11) pp. 1257​-1261​.​
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• 2001 | Journal Article
  ​ ​Myelinopathia centralis diffusa (vanishing white matter disease): Evidence of apoptotic oligodendrocyte degeneration in early lesion development​
  Bruck, W. W.; Herms, J.; Brockmann, K.; Schulz-Schaeffer, W. J. & Hanefeld, F.​ (2001) 
  Annals of Neurology, 50(4) pp. 532​-536​.​ DOI: https://doi.org/10.1002/ana.1227 
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• 2001 | Journal Article | Letter Note
  ​ ​Progressive elevation of liver enzymes in a child treated with sulthiame​
  Brockmann, K. & Hanefeld, F.​ (2001) 
  Neuropediatrics, 32(3) pp. 165​-166​.​ DOI: https://doi.org/10.1055/s-2001-16617 
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• 2001 | Journal Article
  ​ ​Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy​
  Brockmann, K.; Wang, D.; Korenke, C. G.; von Moers, A. ; Ho, Y. Y.; Pascual, J. M. & Kuang, K. et al.​ (2001) 
  Annals of Neurology, 50(4) pp. 476​-485​.​ DOI: https://doi.org/10.1002/ana.1222 
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• 2002 | Journal Article
  ​ ​Eosinophilic fasciitis leading to painless contractures​
  Huppke, P.; Wilken, B.; Brockmann, K.; Sattler, B. & Hanefeld, F.​ (2002) 
  European Journal of Pediatrics, 161(10) pp. 528​-530​.​ DOI: https://doi.org/10.1007/s00431-002-1038-1 
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• 2002 | Journal Article | Letter Note
  ​ ​Juvenile horseplay purpura​
  Brockmann, K. & Diepold, K.​ (2002) 
  ARCHIVES OF DERMATOLOGY, 138(10).​ DOI: https://doi.org/10.1001/archderm.138.10.1384 
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• 2002 | Journal Article
  ​ ​Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency​
  Brockmann, K.; Bjornstad, A.; Dechent, P.; Korenke, C. G.; Smeitink, J.; Trijbels, J. & Athanassopoulos, S. et al.​ (2002) 
  Annals of Neurology, 52(1) pp. 38​-46​.​ DOI: https://doi.org/10.1002/ana.10232 
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• 2002 | Journal Article
  ​ ​Infantile Alexander disease: A GFAP mutation in monozygotic twins and novel mutations in two other patients​
  Meins, M.; Brockmann, K.; Yadav, S.; Haupt, M.; Sperner, J.; Stephani, U. & Hanefeld, F.​ (2002) 
  Neuropediatrics, 33(4) pp. 194​-198​.​ DOI: https://doi.org/10.1055/s-2002-34495 
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• 2002 | Journal Article
  ​ ​EEG features of Glut-1 deficiency syndrome​
  von Moers, A.; Brockmann, K.; Wang, D.; Korenke, C. G.; Huppke, P.; De Vivo, D. C. & Hanefeld, F.​ (2002) 
  Epilepsia, 43(8) pp. 941​-945​.​ DOI: https://doi.org/10.1046/j.1528-1157.2002.50401.x 
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• 2003 | Journal Article
  ​ ​Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation​
  Wilken, B.; Dechent, P.; Brockmann, K.; Finsterbusch, J.; Baumann, M.; Ebell, W. & Korenke, C. G. et al.​ (2003) 
  Neuropediatrics, 34(5) pp. 237​-246​.​
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• 2003 | Journal Article
  ​ ​Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI​
  Brockmann, K.; Finsterbusch, J.; Terwey, B.; Frahm, J.   & Hanefeld, F.​ (2003) 
  Neuroradiology, 45(3) pp. 137​-142​.​ DOI: https://doi.org/10.1007/s00234-002-0931-7 
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• 2003 | Journal Article
  ​ ​Progressive muscle weakness after high-dose steroids in two children with CIDP​
  Rostasy, K.; Diepold, K.; Buckard, J. A.; Brockmann, K.; Wilken, B. & Hanefeld, F.​ (2003) 
  Pediatric Neurology, 29(3) pp. 236​-238​.​ DOI: https://doi.org/10.1016/S0887-8994(03)00222-4 
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• 2003 | Journal Article
  ​ ​Deep cerebral venous sinus thrombosis often presents with neuropsychologic symptoms​
  von Mering, M.; Stiefel, M.; Brockmann, K. & Nau, R.​ (2003) 
  Journal of Clinical Neuroscience, 10(3) pp. 310​-312​.​ DOI: https://doi.org/10.1016/S0967-5868(03)00017-1 
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• 2003 | Journal Article
  ​ ​Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy​
  Baumann, M.; Korenke, C.; Weddige-Diedrichs, A. ; Wilichowski, E.; Hunneman, D. H.; Wilken, B. & Brockmann, K. et al.​ (2003) 
  European Journal of Pediatrics, 162(1) pp. 6​-14​.​ DOI: https://doi.org/10.1007/s00431-002-1097-3 
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• 2003 | Journal Article
  ​ ​Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy​
  Brockmann, K.; Pouwels, P. J.; Dechent, P.; Flanigan, K. M.; Frahm, J. & Hanefeld, F.​ (2003) 
  Brain and Development, 25(1) pp. 45​-50​.​ DOI: https://doi.org/10.1016/s0387-7604(02)00154-7 
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• 2003 | Journal Article
  ​ ​A novel GFAP mutation and disseminated white matter lesions: Adult Alexander disease?​
  Brockmann, K.; Meins, M.; Taubert, A.; Trappe, R.; Grond, M. & Hanefeld, F.​ (2003) 
  European Neurology, 50(2) pp. 100​-105​.​ DOI: https://doi.org/10.1159/000072507 
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• 2004 | Journal Article | Letter Note
  ​ ​Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Krabbe disease​
  Li, Y. J.; Brockmann, K.; Turecek, F.; Scott, C. R. & Gelb, M. H.​ (2004) 
  Clinical Chemistry, 50(3) pp. 638​-640​.​ DOI: https://doi.org/10.1373/clinchem.2003.028381 
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• 2004 | Journal Article
  ​ ​Tarsal tunnel syndrome in a 7-year-old boy​
  Brockmann, K.; Schneider-Sickert, F.; Kolenda, H.; Aden, I. & Hanefeld, F.​ (2004) 
  European Journal of Pediatrics, 163(1) pp. 46​-47​.​ DOI: https://doi.org/10.1007/s00431-003-1360-2 
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• 2004 | Journal Article
  ​ ​A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene​
  Dumitrescu, A. M.; Liao, X. H.; Best, T. B.; Brockmann, K. & Refetoff, S.​ (2004) 
  The American Journal of Human Genetics, 74(1) pp. 168​-175​.​ DOI: https://doi.org/10.1086/380999 
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• 2004 | Journal Article
  ​ ​Myelinopathia centralis diffusa (vanishing white matter disease) in a four-year-old boy​
  Sinzig, J. K.; Seitz, A.; Brockmann, K. & Konig, S.​ (2004) 
  Journal of Neuroradiology, 31(2) pp. 142​-144​.​ DOI: https://doi.org/10.1016/S0150-9861(04)96981-7 
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• 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 
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• 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 
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• 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 
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• 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 
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• 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 
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• 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 
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• 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 
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• 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 
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• 2009 | Journal Article
  ​ ​Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response​
  Rice, G. I.; Bond, J.; Asipu, A.; Brunette, R. L.; Manfield, I. W.; Carr, I. M. & Fuller, J. C. et al.​ (2009) 
  Nature Genetics, 41(7) pp. 829​-U89​.​ DOI: https://doi.org/10.1038/ng.373 
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• 2010 | Journal Article
  ​ ​Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria​
  O'Driscoll, M. C.; Daly, S. B.; Urquhart, J. E.; Black, G. C. M.; Pilz, D. T.; Brockmann, K. & McEntagart, M. et al.​ (2010) 
  The American Journal of Human Genetics, 87(3) pp. 354​-364​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.07.012 
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• 2010 | Journal Article | Letter Note
  ​ ​Identification of a De Novo Mutation in SPG11​
  Denora, P. S.; Brockmann, K.; Ciccolella, M.; Truchetto, J.; Stevanin, G. & Santorelli, F. M.​ (2010) 
  Movement Disorders, 25(4) pp. 501​-503​.​ DOI: https://doi.org/10.1002/mds.22964 
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• 2010 | Journal Article
  ​ ​Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy​
  Cirak, S.; von Deimling, F.; Sachdev, S.; Errington, W. J.; Herrmann, R.; Boennemann, C. & Brockmann, K. et al.​ (2010) 
  Brain, 133 pp. 2123​-2135​.​ DOI: https://doi.org/10.1093/brain/awq108 
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• 2011 | Journal Article | 
  ​ ​A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome​
  Lindhurst, M. J.; Sapp, J. C.; Teer, J. K.; Johnston, J. J.; Finn, E. M.; Peters, K. & Turner, J. et al.​ (2011) 
  New England Journal of Medicine, 365(7) pp. 611​-619​.​ DOI: https://doi.org/10.1056/NEJMoa1104017 
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• 2011 | Journal Article
  ​ ​Familial Intellectual Disability and Autistic Behavior Caused by a Small FMR2 Gene Deletion​
  Stettner, G. M.; Shoukier, M.; Hoeger, C.; Brockmann, K. & Auber, B.​ (2011) 
  American Journal of Medical Genetics Part A, 155A(8) pp. 2003​-2007​.​ DOI: https://doi.org/10.1002/ajmg.a.34122 
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• 2011 | Journal Article | Letter Note
  ​ ​Towards a more palatable treatment for Glut1 deficiency syndrome​
  Brockmann, K.​ (2011) 
  Developmental Medicine & Child Neurology, 53(7) pp. 580​-581​.​ DOI: https://doi.org/10.1111/j.1469-8749.2011.03946.x 
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• 2011 | Journal Article
  ​ ​Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia​
  Namavar, Y.; Barth, P. G.; Kasher, P. R.; van Ruissen, F.; Brockmann, K.; Bernert, G. & Writzl, K. et al.​ (2011) 
  Brain, 134 pp. 143​-156​.​ DOI: https://doi.org/10.1093/brain/awq287 
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• 2011 | Journal Article
  ​ ​Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency​
  Danhauser, K.; Iuso, A.; Haack, T. B.; Freisinger, P.; Brockmann, K.; Mayr, J. A. & Meitinger, T. et al.​ (2011) 
  Molecular Genetics and Metabolism, 103(2) pp. 161​-166​.​ DOI: https://doi.org/10.1016/j.ymgme.2011.03.004 
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• 2012 | Journal Article
  ​ ​A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy​
  Shoukier, M.; Schröder, J.; Zoll, B.; Burfeind, P.; Freiberg, C.; Klinge, L. & Kriebel, T. et al.​ (2012) 
  American Journal of Medical Genetics Part A, 158A(2) pp. 429​-433​.​ DOI: https://doi.org/10.1002/ajmg.a.34427 
  ​Details  DOI 

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