1. A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene. (February 2014) Authors: Lohkamp, Laura Nanna; Au, Katja von; Goebel, Hans-Hilmar; Kress, Wolfram; Grieben, Ulrike; Drossel, Karin; Garbes, Lutz; Wirth, Brunhilde; Heppner, Frank L.; Stenzel, Werner Journal: Journal of child neurology Issue: Volume 29:Number 2(2014:Feb.) Page Start: 254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Advances in understanding the role of disease-associated proteins in spinal muscular atrophy. (3rd July 2017) Authors: Hosseinibarkooie, Seyyedmohsen; Schneider, Svenja; Wirth, Brunhilde Journal: Expert review of proteomics Issue: Volume 14:Number 7(2017) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA. (21st July 2020) Authors: Kirschner, Janbernd; Becker, Jutta; Schorling, David; Pechmann, Astrid; Wirth, Brunhilde Journal: Neurology Issue: Volume 95:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse. (11th October 2022) Authors: Overhoff, Melina; Tellkamp, Frederik; Hess, Simon; Tolve, Marianna; Tutas, Janine; Faerfers, Marcel; Ickert, Lotte; Mohammadi, Milad; De Bruyckere, Elodie; Kallergi, Emmanouela; Delle Vedove, Andrea; Nikoletopoulou, Vassiliki; Wirth, Brunhilde; Isensee, Joerg; Hucho, Tim; Puchkov, Dmytro; Isbrand... Journal: EMBO journal Issue: Volume 41:Number 22(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. (February 2018) Authors: Mendoza-Ferreira, Natalia; Coutelier, Marie; Janzen, Eva; Hosseinibarkooie, Seyyedmohsen; Löhr, Heiko; Schneider, Svenja; Milbradt, Janine; Karakaya, Mert; Riessland, Markus; Pichlo, Christian; Torres-Benito, Laura; Singleton, Andrew; Zuchner, Stephan; Brice, Alexis; Durr, Alexandra; Hammerschmid... Journal: Neurology Issue: Volume 4:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Issue 8 (18th May 2019) Authors: Karakaya, Mert; Paketci, Cem; Altmueller, Janine; Thiele, Holger; Hoelker, Irmgard; Yis, Uluc; Wirth, Brunhilde Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy. (4th May 2022) Authors: Schorling, David C.; Kölbel, Heike; Hentschel, Andreas; Pechmann, Astrid; Meyer, Nancy; Wirth, Brunhilde; Rombo, Roman; Sickmann, Albert; Kirschner, Janbernd; Schara‐Schmidt, Ulrike; Lochmüller, Hanns; Roos, Andreas Other Names: Abele Thea Beatrice investigator.; Andres Barbara investigator.; Angelova‐Toshkina Daniela investigator.; Baum Petra investigator.; Baum Tobias investigator.; Baumann Matthias investigator.; Baumgartner Manuela investigator.; Baur Ute investigator.; Becker Benedikt investigator.; Behring Bettina ... Journal: European journal of neurology Issue: Volume 29:Number 7(2022) Page Start: 2084 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I. Issue 2 (18th September 2017) Authors: Krosschell, Kristin J.; Kissel, John T.; Townsend, Elise L.; Simeone, Sarah D.; Zhang, Ren Zhe; Reyna, Sandra P.; Crawford, Thomas O.; Schroth, Mary K.; Acsadi, Gyula; Kishnani, Priya S.; Von Kleist‐Retzow, Jürgen‐Christoph; Hero, Barbara; D'Anjou, Guy; Smith, Edward C.; Elsheikh, Bakri; Simard, ... Journal: Muscle & nerve Issue: Volume 57:Issue 2(2018) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Discrepancy in redetermination of SMN2 copy numbers in children with SMA. (6th August 2019) Authors: Schorling, David Christof; Becker, Jutta; Pechmann, Astrid; Langer, Thorsten; Wirth, Brunhilde; Kirschner, Janbernd Journal: Neurology Issue: Volume 93:Number 6(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. Issue 5 (11th December 2013) Authors: Synofzik, Matthis; Martinez-Carrera, Lilian A; Lindig, Tobias; Schöls, Ludger; Wirth, Brunhilde Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 5(2014) Page Start: 590 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗