1. Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. Issue 3 (9th July 2016) Authors: Rudnik‐Schöneborn, Sabine; Deden, Florian; Eggermann, Katja; Eggermann, Thomas; Wieczorek, Dagmar; Sellhaus, Bernd; Yamoah, Alfred; Goswami, Anand; Claeys, Kristl G.; Weis, Joachim; Zerres, Klaus Journal: Muscle & nerve Issue: Volume 54:Issue 3(2016) Page Start: 496 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study. (March 2021) Authors: Egenolf, Nadine; Altenschildesche, Caren Meyer zu; Kreß, Luisa; Eggermann, Katja; Namer, Barbara; Gross, Franziska; Klitsch, Alexander; Malzacher, Tobias; Kampik, Daniel; Malik, Rayaz A.; Kurth, Ingo; Sommer, Claudia; Üçeyler, Nurcan Journal: Therapeutic advances in neurological disorders Issue: Volume 14(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Differential diagnosis of vacuolar myopathies in the NGS era. (15th June 2020) Authors: Mair, Dorothea; Biskup, Saskia; Kress, Wolfram; Abicht, Angela; Brück, Wolfgang; Zechel, Sabrina; Knop, Karl Christian; Koenig, Fatima Barbara; Tey, Shelisa; Nikolin, Stefan; Eggermann, Katja; Kurth, Ingo; Ferbert, Andreas; Weis, Joachim Journal: Brain pathology Issue: Volume 30:Number 5(2020) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver–Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely. Issue 4 (30th March 2007) Authors: Eggermann, Thomas; Schönherr, Nadine; Eggermann, Katja; Wollmann, Hartmut Journal: Journal of medical genetics Issue: Volume 44:Issue 4(2007) Page Start: e77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. Issue 2 (1st February 2001) Authors: Eggermann, Thomas; Mergenthaler, Susanne; Eggermann, Katja; Albers, Alexandra; Linnemann, Knud; Fusch, Christoph; Ranke, Michael B; Wollmann, Hartmut A Journal: Journal of medical genetics Issue: Volume 38:Issue 2(2001) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Molecular pathophysiology of human MICU1 deficiency. (22nd February 2021) Authors: Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai‐Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas Journal: Neuropathology & applied neurobiology Issue: Volume 47:Number 6(2021) Page Start: 840 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition. (March 2020) Authors: Quade, Annegret; Thiel, Anne; Kurth, Ingo; Holtgrewe, Manuel; Elbracht, Miriam; Beule, Dieter; Eggermann, Katja; Scholl, Ute I.; Häusler, Martin Journal: European journal of paediatric neurology Issue: Volume 25(2020) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations. Issue 3 (19th December 2013) Authors: Schwanitz, Gesa; Hagh, Javad Karim Zad; Rad, Isa Abdi; Omrani, Mir Davood; Gamerdinger, Ulrike; Schubert, Regine; Elbracht, Miriam; Eggermann, Thomas; Eggermann, Katja; Spengler, Sabrina; Schüler, Herdit; Gogiel, Magdalena Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 736 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. (15th December 2020) Authors: Senderek, Jan; Lassuthova, Petra; Kabzińska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Dräger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, D... Journal: Neurology Issue: Volume 95:Number 24(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗