1. ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (10th June 2016) Authors: Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy. (12th January 2021) Authors: Kehrer, Christiane; Elgün, Saskia; Raabe, Christa; Böhringer, Judith; Beck-Wödl, Stefanie; Bevot, Andrea; Kaiser, Nadja; Schöls, Ludger; Krägeloh-Mann, Ingeborg; Groeschel, Samuel Journal: Neurology Issue: Volume 96:Number 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Enlargement of peripheral nerves in Krabbe disease: The diagnostic value of nerve ultrasound. Issue 4 (17th February 2020) Authors: Küpper, Hanna; Kaiser, Nadja; Winter, Natalie; Kehrer, Christiane; Groeschel, Samuel; Bevot, Andrea; Nägele, Thomas; Krägeloh‐Mann, Ingeborg; Grimm, Alexander Journal: Muscle & nerve Issue: Volume 61:Issue 4(2020) Page Start: E24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (8th August 2016) Authors: Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 759 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evaluating the safety of perioperative dexamethasone treatment: A retrospective analysis of a single center pediatric low‐grade glioma cohort. Issue 9 (23rd December 2022) Authors: Gorodezki, David; Zipfel, Julian; Queudeville, Manon; Holzer, Ursula; Bevot, Andrea; Schittenhelm, Jens; Nägele, Thomas; Schuhmann, Martin U.; Ebinger, Martin Journal: International journal of cancer Issue: Volume 152:Issue 9(2023) Page Start: 1875 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Growth in very preterm children: Head growth after discharge is the best independent predictor for cognitive outcome. (December 2016) Authors: Lidzba, Karen; Rodemann, Susanne; Goelz, Rangmar; Krägeloh-Mann, Ingeborg; Bevot, Andrea Journal: Early human development Issue: Volume 103(2016) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies. (10th June 2015) Authors: Kehrer, Martin; Schäferhoff, Karin; Bonin, Michael; Jauch, Anna; Bevot, Andrea; Tzschach, Andreas Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies. (10th June 2015) Authors: Kehrer, Martin; Schäferhoff, Karin; Bonin, Michael; Jauch, Anna; Bevot, Andrea; Tzschach, Andreas Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro. (May 2017) Authors: Krägeloh-Mann, Inge; Harzer, Klaus; Rostásy, Kevin; Beck-Wödl, Stefanie; Bornemann, Antje; Böhringer, Judith; Bevot, Andrea; Beck, Verena; Merkel, Gisela; Pechan, Maria Journal: European journal of paediatric neurology Issue: Volume 21:Number 3(2017:May) Page Start: 522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. LGG-51. Resection extent and BRAF V600E mutation status determine postoperative growth velocity in pediatric Low-grade glioma: Results from a single-center cohort analysis. (3rd June 2022) Authors: Gorodezki, David; Sosa, Jordana; Holzer, Ursula; Queudeville, Manon; Zipfel, Julian; Bevot, Andrea; Schittenhelm, Jens; Nägele, Thomas; Ebinger, Martin; Schuhmann, Martin Journal: Neuro-oncology Issue: Volume 24(2022)Supplement 1 Page Start: i100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗