1. The Crystal Structure of the Human Titin:Obscurin Complex Reveals a Conserved yet Specific Muscle M-Band Zipper Module. Issue 4 (27th February 2015) Authors: Pernigo, Stefano; Fukuzawa, Atsushi; Pandini, Alessandro; Holt, Mark; Kleinjung, Jens; Gautel, Mathias; Steiner, Roberto A. Journal: Journal of molecular biology Issue: Volume 427:Issue 4(2015:Feb. 15) Page Start: 718 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. (October 2016) Authors: Hastings, Robert; de Villiers, Carin P.; Hooper, Charlotte; Ormondroyd, Liz; Pagnamenta, Alistair; Lise, Stefano; Salatino, Silvia; Knight, Samantha J.L.; Taylor, Jenny C.; Thomson, Kate L.; Arnold, Linda; Chatziefthimiou, Spyros D.; Konarev, Petr V.; Wilmanns, Matthias; Ehler, Elisabeth; Ghislen... Journal: Circulation Issue: Volume 9:Number 5(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. (10th October 2021) Authors: Savarese, Marco; Vihola, Anna; Jokela, Manu E.; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne Journal: Neurology Issue: Volume 7:Number 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy. Issue 3 (4th March 2022) Authors: Deneubourg, Celine; Ramm, Mauricio; Smith, Luke J.; Baron, Olga; Singh, Kritarth; Byrne, Susan C.; Duchen, Michael R.; Gautel, Mathias; Eskelinen, Eeva-Liisa; Fanto, Manolis; Jungbluth, Heinz Journal: Autophagy Issue: Volume 18:Issue 3(2022) Page Start: 496 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The Axial Alignment of Titin on the Muscle Thick Filament Supports Its Role as a Molecular Ruler. Issue 17 (7th August 2020) Authors: Bennett, Pauline; Rees, Martin; Gautel, Mathias Journal: Journal of molecular biology Issue: Volume 432:Issue 17(2020) Page Start: 4815 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein–protein interactions and protein stability. Issue 12 (12th January 2021) Authors: Fukuzawa, Atsushi; Koch, Daniel; Grover, Sarah; Rees, Martin; Gautel, Mathias Journal: Human molecular genetics Issue: Volume 30:Issue 12(2021) Page Start: 1131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The molecular basis for sarcomere organization in vertebrate skeletal muscle. (August 2021) Authors: Wang, Zhexin; Grange, Michael; Wagner, Thorsten; Kho, Ay Lin; Gautel, Mathias; Raunser, Stefan Journal: Microscopy and microanalysis Issue: Volume 27:Supplement 1(2021) Page Start: 2832 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Current and future therapeutic approaches to the congenital myopathies. (April 2017) Authors: Jungbluth, Heinz; Ochala, Julien; Treves, Susan; Gautel, Mathias Journal: Seminars in cell & developmental biology Issue: Volume 64(2017) Page Start: 191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. (October 2021) Authors: Savarese, Marco; Vihola, Anna; Jokela, Manu E.; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne Journal: Neurology Issue: Volume 7:Number 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Position-dependent effects of titin truncation on the heart. (31st December 2022) Authors: Santiago, Celine; Huttner, Inken G.; Wang, Louis W.; Chand, Renee; Cvetkovska, Jasmina; Zhao, Gunjan; Hesselson, Daniel; Hinits, Yaniv; O'Brien, Ailbhe; Feneley, Michael; Smith, Kelly; Linke, Wolfgang; Gautel, Mathias; Fatkin, Diane Journal: Journal of molecular and cellular cardiology Issue: Volume 173(2022)Supplement Page Start: 20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗