Brockmann, Knut

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

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 706

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., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics

Fetal and Pediatric Neurological DisordersBarrier Structure and Function Studies

Cited by 145

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., et al. (2014) · Human Molecular Genetics

Muscle Physiology and DisordersConnective tissue disorders research

Cited by 143

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M. J., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., et al. (2016) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 124

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., et al. (2014) · Journal of Medical Genetics

Genomics and Rare DiseasesDevelopmental Biology and Gene Regulation

Cited by 115

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., et al. (2014) · Brain

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 109

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. M. F., Athanassopoulos, S., Villagran, R., Skjeldal, O. H., Wilichowski, E., et al. (2002) · Annals of Neurology

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 81

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., Benoit, V., Maystadt, I., Noakes, C., et al. (2016) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 56

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy

Baumann, M., Korenke, C., Weddige-Diedrichs, A., Wilichowski, E., Hunneman, D., Wilken, B., Brockmann, K., Klingebiel, T., Niethammer, D., Kühl, J., et al. (2003) · European Journal of Pediatrics

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 47

Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany

Kahlert, E., Blaschke, M., Brockmann, K., Freiberg, C., Janssen, O. E., Stahnke, N., Strik, D., Merkel, M., Mann, A., Liesenkötter, K.-P., et al. (2019) · Endocrine Connections

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Cited by 14