Author Brockmann, Knut

• 2024 | Journal Article | 
  ​ ​Applicability and clinical utility of the German rivermead post-concussion symptoms questionnaire in proxies of children after traumatic brain injury: an instrument validation study​
  Bockhop, F.; Greving, S.; Zeldovich, M.; Krenz, U.; Cunitz, K.; Timmermann, D. & Kieslich, M. et al.​ (2024) 
  BMC Neurology, 24(1) art. 133​.​ DOI: https://doi.org/10.1186/s12883-024-03587-2 
  ​Details  DOI 

• 2024 | Journal Article
  ​ ​Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases​
  Graessner, H.; Reinhard, C.; Bäumer, T.; Baumgärtner, A.; Brockmann, K.; Brüggemann, N. & Bültmann, E. et al.​ (2024) 
  Orphanet Journal of Rare Diseases, 19(1).​ DOI: https://doi.org/10.1186/s13023-024-03023-1 
  ​Details  DOI 

• 2024 | Journal Article | Erratum
  ​ ​Corrigendum: Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years​
  Zeldovich, M.; Krol, L.; Timmermann, D.; Krenz, U.; Arango-Lasprilla, J. C.; Gioia, G. & Brockmann, K. et al.​ (2024) 
  Frontiers in Neurology, 15 art. 1372640​.​ DOI: https://doi.org/10.3389/fneur.2024.1372640 
  ​Details  DOI 

• 2023 | Journal Article | 
  ​ ​A Multidimensional Approach to Assessing Factors Impacting Health-Related Quality of Life after Pediatric Traumatic Brain Injury​
  von Steinbuechel, N.; Krenz, U.; Bockhop, F.; Koerte, I. K.; Timmermann, D.; Cunitz, K. & Zeldovich, M. et al.​ (2023) 
  Journal of Clinical Medicine, 12(12) pp. 3895​.​ DOI: https://doi.org/10.3390/jcm12123895 
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• 2023 | Journal Article | 
  ​ ​Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome​
  Serpieri, V.; Mortarini, G.; Loucks, H.; Biagini, T.; Micalizzi, A.; Palmieri, I. & Dempsey, J. C et al.​ (2023) 
  Journal of Medical Genetics,.​ DOI: https://doi.org/10.1136/jmg-2022-108725 
  ​Details  DOI 

• 2023 | Journal Article
  ​ ​Moebius syndrome and gastroschisis—The second case of a rare association​
  Brockmann, K. & Kaulfuß, S.​ (2023) 
  American Journal of Medical Genetics Part A, art. ajmg.a.63411​.​ DOI: https://doi.org/10.1002/ajmg.a.63411 
  ​Details  DOI 

• 2023 | Journal Article | 
  ​ ​Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years​
  Zeldovich, M.; Krol, L.; Timmermann, D.; Krenz, U.; Arango-Lasprilla, J. C.; Gioia, G. & Brockmann, K. et al.​ (2023) 
  Frontiers in Neurology, 14.​ DOI: https://doi.org/10.3389/fneur.2023.1266828 
  ​Details  DOI 

• 2022 | Journal Article | 
  ​ ​Health-Related Quality of Life after Pediatric Traumatic Brain Injury: A Qualitative Comparison of Perspectives of Children and Adolescents after TBI and a Comparison Group without a History of TBI​
  Timmermann, D.; Krenz, U.; Schmidt, S.; Lendt, M.; Salewski, C.; Brockmann, K. & von Steinbüchel, N.​ (2022) 
  Journal of Clinical Medicine, 11(22) pp. 6783​.​ DOI: https://doi.org/10.3390/jcm11226783 
  ​Details  DOI 

• 2021 | Journal Article | Research Paper | 
  ​ ​Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy​
  Reinert, M.-C.; Pacheu-Grau, D.; Catarino, C. B.; Klopstock, T.; Ohlenbusch, A.; Schittkowski, M. & Wilichowski, E. et al.​ (2021) 
  Orphanet Journal of Rare Diseases, 16(1) art. 64​.​ DOI: https://doi.org/10.1186/s13023-021-01690-y 
  ​Details  DOI  PMID  PMC 

• 2021 | Journal Article | Research Paper | 
  ​ ​Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state​
  Yigit, G.; Sheffer, R.; Daana, M.; Li, Y.; Kaygusuz, E.; Mor-Shakad, H. & Altmüller, J. et al.​ (2021) 
  Journal of Medical Genetics, 59(6) pp. 549​-553​.​ DOI: https://doi.org/10.1136/jmedgenet-2021-107769 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article | 
  ​ ​The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood​
  Döring, J. H.; Saffari, A.; Bast, T.; Brockmann, K.; Ehrhardt, L.; Fazeli, W. & Janzarik, W. G. et al.​ (2020) 
  Biomedicines, 8(11) pp. 456​.​ DOI: https://doi.org/10.3390/biomedicines8110456 
  ​Details  DOI 

• 2020 | Journal Article | Research Paper | 
  ​ ​A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome​
  Drivas, T. G.; Li, D.; Nair, D.; Alaimo, J. T.; Alders, M.; Altmüller, J. & Barakat, T. S. et al.​ (2020) 
  European Journal of Human Genetics, 28(10) pp. 1422​-1431​.​ DOI: https://doi.org/10.1038/s41431-020-0654-4 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article | 
  ​ ​A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome​
  Koehler, K.; Schuelke, M.; Hell, A. K. ; Huebner, A.; Schittkowski, M. & Brockmann, K.​ (2020) 
  American Journal of Medical Genetics. Part A, 182(3) pp. 570​-575​.​ DOI: https://doi.org/10.1002/ajmg.a.61435 
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• 2019 | Journal Article | 
  ​ ​Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice​
  Pringsheim, M.; Mitter, D.; Schröder, S.; Warthemann, R.; Plümacher, K.; Kluger, G. & Baethmann, M. et al.​ (2019) 
  Annals of Clinical and Translational Neurology, 6(4) pp. 655​-668​.​ DOI: https://doi.org/10.1002/acn3.735 
  ​Details  DOI  PMID  PMC 

• 2016 | Conference Abstract
  ​ ​Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene​
  Brauns, B.; Schubert, S.; Lehmann, J.; Laspe, P.; Koerner, A.; Brockmann, K. & Schoen, M. P. et al.​ (2016)
  Experimental Dermatology, 25(3) ​43rd Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung-e-V (ADF)​, Vienna, AUSTRIA.
  Hoboken​: Wiley-blackwell.
  ​Details  WoS 

• 2016 | Journal Article | 
  ​ ​Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study​
  Wente, S.; Schroeder, S.; Buckard, J. A.; Buettel, H.-M.; von Deimling, F.; Diener, W. & Haeussler, M. et al.​ (2016) 
  Orphanet Journal of Rare Diseases, 11 art. 104​.​ DOI: https://doi.org/10.1186/s13023-016-0486-z 
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• 2016 | Journal Article
  ​ ​Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum​
  Smogavec, M.; Cleall, A.; Hoyer, J.; Lederer, D.; Nassogne, M.-C.; Palmer, E. E. & Deprez, M. et al.​ (2016) 
  Journal of Medical Genetics, 53(12) pp. 820​-827​.​ DOI: https://doi.org/10.1136/jmedgenet-2016-103880 
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• 2016 | Journal Article
  ​ ​Transition of Adolescents with Chronic Neurologic Disorders into Adult Health Care​
  Albers, L.; Koch, E.-L.; Lingen, M.; von Kries, R. & Brockmann, K.​ (2016) 
  Klinische Pädiatrie, 228(5) pp. 251​-256​.​ DOI: https://doi.org/10.1055/s-0042-111690 
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• 2016 | Journal Article
  ​ ​Magnetic Resonance Imaging Spectrum of Succinate Dehydrogenase-Related Infantile Leukoencephalopathy​
  Helman, G.; Caldovic, L.; Whitehead, M. T.; Simons, C.; Brockmann, K.; Edvardson, S. & Bai, R. et al.​ (2016) 
  Annals of Neurology, 79(3) pp. 379​-386​.​ DOI: https://doi.org/10.1002/ana.24572 
  ​Details  DOI  PMID  PMC  WoS 

• 2016 | Journal Article | 
  ​ ​Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)​
  Micalizzi, A.; Poretti, A.; Romani, M.; Ginevrino, M.; Mazza, T.; Aiello, C. & Zanni, G. et al.​ (2016) 
  European Journal of Human Genetics, 24(9) pp. 1262​-1267​.​ DOI: https://doi.org/10.1038/ejhg.2016.19 
  ​Details  DOI  PMID  PMC  WoS 

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