1. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease. (13th July 2021) Authors: Malfatti, Edoardo; Catchpool, Tara; Nouioua, Sonia; Sihem, Hellal; Fournier, Emmanuel; Carlier, Robert Y.; Cardone, Nastasia; Davis, Mark R.; Laing, Nigel G.; Sternberg, Damien; Ravenscroft, Gianina Journal: Neuropathology & applied neurobiology Issue: Volume 48:Number 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Issue 6 (27th July 2018) Authors: Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phi... Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity. Issue 4 (21st February 2018) Authors: Hobbelink, Sanne M. R.; Brockley, Cain R.; Kennedy, Rachel A.; Carroll, Kate; de Valle, Katy; Rao, Padma; Davis, Mark R.; Laing, Nigel G.; Voermans, Nicol C.; Ryan, Monique M.; Yiu, Eppie M. Journal: Brain and behavior Issue: Volume 8:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. Issue 7 (29th April 2014) Authors: Barnett, Christopher P.; Todd, Emily J.; Ong, Royston; Davis, Mark R.; Atkinson, Vanessa; Allcock, Richard; Laing, Nigel; Ravenscroft, Gianina Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation. Issue 1 (29th July 2016) Authors: Huynh, William; Davis, Mark R. Journal: Muscle & nerve Issue: Volume 55:Issue 1(2017) Page Start: E2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy. (20th August 2022) Authors: Folland, Chiara; Johnsen, Russell; Botero Gomez, Adriana; Trajanoski, Daniel; Davis, Mark R.; Moore, Ursula; Straub, Volker; Barresi, Rita; Guglieri, Michela; Hayhurst, Hannah; Schaefer, Andrew M.; Laing, Nigel G.; Lamont, Philipa J.; Ravenscroft, Gianina Journal: Neuropathology & applied neurobiology Issue: Volume 48:Number 7(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Issue 3 (13th January 2018) Authors: Sandaradura, Sarah A.; Bournazos, Adam; Mallawaarachchi, Amali; Cummings, Beryl B.; Waddell, Leigh B.; Jones, Kristi J.; Troedson, Christopher; Sudarsanam, Annapurna; Nash, Benjamin M.; Peters, Gregory B.; Algar, Elizabeth M.; MacArthur, Daniel G.; North, Kathryn N.; Brammah, Susan; Charlton, Ama... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. New era in genetics of early-onset muscle disease: Breakthroughs and challenges. (April 2017) Authors: Ravenscroft, Gianina; Davis, Mark R.; Lamont, Phillipa; Forrest, Alistair; Laing, Nigel G. Journal: Seminars in cell & developmental biology Issue: Volume 64(2017) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Issue 11 (9th September 2020) Authors: Akesson, Lauren S.; Bournazos, Adam; Fennell, Andrew; Krzesinski, Emma I.; Tan, Kenneth; Springer, Amanda; Rose, Katherine; Goranitis, Ilias; Francis, David; Lee, Crystle; Faiz, Fathimath; Davis, Mark R.; Christodoulou, John; Lunke, Sebastian; Stark, Zornitza; Hunter, Matthew F.; Cooper, Sandra T. Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1884 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019) Authors: Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗