1. A Novel NPTX1 de novo Variant in a Late‐Onset Ataxia Patient. Issue 6 (14th March 2022) Authors: Deppe, Jonas; Deininger, Natalie; Lingor, Paul; Haack, Tobias B.; Haslinger, Bernhard; Deschauer, Marcus Journal: Movement disorders Issue: Volume 37:Issue 6(2022) Page Start: 1319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin. Issue 8 (14th June 2022) Authors: Cordts, Isabell; Önder, Demet; Traschütz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiß, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Raut... Journal: Movement disorders Issue: Volume 37:Issue 8(2022) Page Start: 1707 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Issue 8 (12th June 2013) Authors: Sarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H.; Barresi, Rita; Hilton‐Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C.; Krause, Sabine; van den, Peter; Illa, Isabel; Pénisson‐Besnier, Isabelle; De, Liesbeth; Turn... Journal: Human mutation Issue: Volume 34:Issue 8(2013:Aug.) Page Start: 1111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease. Issue 10 (1st September 2022) Authors: Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Göricke, Sophia L.; Lingor, Paul; Brüggemann, Norbert; Münchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack,... Journal: Movement disorders Issue: Volume 37:Issue 10(2022) Page Start: 2147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration. Issue 1 (13th September 2019) Authors: Dusek, Petr; Mekle, Ralf; Skowronska, Marta; Acosta‐Cabronero, Julio; Huelnhagen, Till; Robinson, Simon Daniel; Schubert, Florian; Deschauer, Marcus; Els, Antje; Ittermann, Bernd; Schottmann, Gudrun; Madai, Vince I.; Paul, Friedemann; Klopstock, Thomas; Kmiec, Tomasz; Niendorf, Thoralf; Wuerfel, ... Journal: Movement disorders Issue: Volume 35:Issue 1(2020) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein–associated neurodegeneration. Issue 1 (13th September 2019) Authors: Dusek, Petr; Mekle, Ralf; Skowronska, Marta; Acosta‐Cabronero, Julio; Huelnhagen, Till; Robinson, Simon Daniel; Schubert, Florian; Deschauer, Marcus; Els, Antje; Ittermann, Bernd; Schottmann, Gudrun; Madai, Vince I.; Paul, Friedemann; Klopstock, Thomas; Kmiec, Tomasz; Niendorf, Thoralf; Wuerfel, ... Journal: Movement disorders Issue: Volume 35:Issue 1(2020) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. Issue 12 (17th October 2014) Authors: Böhm, Johann; Chevessier, Frédéric; Koch, Catherine; Peche, G Arielle; Mora, Marina; Morandi, Lucia; Pasanisi, Barbara; Moroni, Isabella; Tasca, Giorgio; Fattori, Fabiana; Ricci, Enzo; Pénisson-Besnier, Isabelle; Nadaj-Pakleza, Aleksandra; Fardeau, Michel; Joshi, Pushpa Raj; Deschauer, Marcus; Ro... Journal: Journal of medical genetics Issue: Volume 51:Issue 12(2014) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. Issue 14 (18th February 2022) Authors: Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M; Hoefele, Julia; Götze, Katharina S; Meitinger, Thomas; Wagner, Matias Journal: Human molecular genetics Issue: Volume 31:Issue 14(2022) Page Start: 2386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Combined Treatment With Pembrolizumab and Allogenic BK Virus-Specific T Cells in Progressive Multifocal Leukoencephalopathy: A Case Report. Issue 5 (September 2021) Authors: Wicklein, Rebecca; Heidegger, Simon; Verbeek, Mareike; Eiz-Vesper, Britta; Maecker-Kolhoff, Britta; Kirschke, Jan Stefan; Page, Agata; Korn, Thomas; Hemmer, Bernhard; Deschauer, Marcus Journal: Neurology Issue: Volume 8:Issue 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Decreased water T2 in fatty infiltrated skeletal muscles of patients with neuromuscular diseases. (10th June 2019) Authors: Schlaeger, Sarah; Weidlich, Dominik; Klupp, Elisabeth; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Ruschke, Stefan; Zimmer, Claus; Rummeny, Ernst J.; Kirschke, Jan S.; Karampinos, Dimitrios C. Journal: NMR in biomedicine Issue: Volume 32:Number 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗