K. Hoertnagel

Most-cited papers

1. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

   V. Tiranti, K. Hoertnagel, R. Carrozzo, C. Galimberti +14 more

   1998American Journal of Human Genetics536 citations Open access

   Semantic Scholar

   Save

2. Burkitt Lymphoma in the Mouse

   A. Kovalchuk, Chen-Feng Qi, T. Torrey, L. Taddesse-Heath +9 more

   2000Journal of Experimental Medicine215 citations Open access

   Semantic Scholar

   Save

3. Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

   V. Tiranti, M. Jaksch, Sabine Hofmann, C. Galimberti +9 more

   1999Annals of Neurology128 citations

   Semantic Scholar

   Save

4. FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

   D. Mitter, M. Pringsheim, M. Kaulisch, K. Plümacher +37 more

   2017Genetics in Medicine94 citations Open access

   Semantic Scholar

   Save

5. Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.

   C. von Stülpnagel, M. Ensslen, R. Møller, Deb K. Pal +17 more

   2017European journal of paediatric neurology36 citations

   Semantic Scholar

   Save

6. New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation.

   J. Kuemmerle-Deschner, T. Welzel, K. Hoertnagel, I. Tsiflikas +8 more

   2020Rheumatology33 citations

   Semantic Scholar

   Save

7. Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient

   I. Karin, I. Borggraefe, C. Catarino, Christoph Kuhm +6 more

   2017Journal of Neurology17 citations

   Semantic Scholar

   Save

8. Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation

   H. Hoelz, E. Coppenrath, K. Hoertnagel, T. Roser +3 more

   2018Clinical EEG and Neuroscience16 citations Open access

   Semantic Scholar

   Save

9. Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters

   Eva-Katharina Willimsky, A. Munzig, K. Mayer, S. Biskup +10 more

   2020Neuropediatrics8 citations Open access

   Semantic Scholar

   Save

10. SAT0614 New variant in the il1rn-gene associated with late onset and atypical presentation of dira

    J. Kuemmerle-Deschner, K. Hoertnagel, S. Schlipf, S. Hansmann +4 more

    2018Saturday, 16 JUNE 20182 citations Open access

    Semantic Scholar

    Save

11. Unusual genetic findings in 900 patients clinically diagnosed with hereditary retinal dystrophies

    N. Gloeckle, S. Kohl, J. Mohr, K. Bengesser +5 more

    20150 citations

    Semantic Scholar

    Save

12. MUTATIONS IN GRIN2B IN WEST SYNDROME AND INTELLECTUAL DISABILITY WITH CHILDHOOD-ONSET FOCAL EPILEPSY

    Lemke, R. Hendrickx, Kirsten Geider, L. Bodó +16 more

    20140 citations

    Semantic Scholar

    Save

13. Gene construct and use thereof

    A. Polack, K. Hoertnagel, J. Wolf, S. Muecke

    19950 citations

    Semantic Scholar

    Save