1. 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) ↗
2. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Issue 4 (3rd March 2019) Authors: Dominov, Janice A.; Uyan, Özgün; McKenna‐Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Kergourlay, Virginie; Bartoli, Marc; Levy, Nicolas; Hudson, Judith; Evangelista, Teresinha; Lochmuller, Hanns; Krahn, Martin; Rufibach, Laura; Hegde, Madhuri; Brown, Robert H. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Issue 12 (1st December 2018) Authors: Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Tanner, Alice; Ankala, Arunkanth; Schneider, Thomas; da Silva, Cristina; Beadling, Randall; Alexander, John J.; Askree, Syed Hussain; Whitt, Zachary; Bean, Lora; Collins, Christin; Khadilkar, Satish; Gaitonde, Pradnya; Dastur, R... Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 12(2018) Page Start: 1574 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. Issue 10 (7th May 2018) Authors: Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K; Mayhew, Anna; Smith, Fiona E; Moore, Ursula R; Blamire, Andrew M; Carlier, Pierre G; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramar... Other Names: author non-byline.; Arrieta Adrienne author non-byline.; Feng Jia author non-byline.; Hwang Esther author non-byline.; Lee Elaine author non-byline.; Illa Isabel author non-byline.; Gallardo Eduard author non-byline.; Hernández Irene Pedrosa author non-byline.; Jimeno Izaskun Belmonte author non... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 10(2018) Page Start: 1071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. Issue 11 (29th January 2018) Authors: Moore, Ursula R; Jacobs, Marni; Fernandez-Torron, Roberto; Jang, Jiji; James, Meredith K; Mayhew, Anna; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Cnaan, Avital; Carlier, Pierre G; Blamire, Andrew; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; D... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 11(2018) Page Start: 1224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. (August 2016) Authors: Harris, Elizabeth; Bladen, Catherine L.; Mayhew, Anna; James, Meredith; Bettinson, Karen; Moore, Ursula; Smith, Fiona E.; Rufibach, Laura; Cnaan, Avital; Bharucha-Goebel, Diana X.; Blamire, Andrew M.; Bravver, Elena; Carlier, Pierre G.; Day, John W.; Díaz-Manera, Jordi; Eagle, Michelle; Grieben, ... Journal: Neurology Issue: Volume 2:Number 4(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. Issue 3 (3rd April 2022) Authors: Reyngoudt, Harmen; Smith, Fiona E.; Caldas de Almeida Araújo, Ericky; Wilson, Ian; Fernández‐Torrón, Roberto; James, Meredith K.; Moore, Ursula R.; Díaz‐Manera, Jordi; Marty, Benjamin; Azzabou, Noura; Gordish, Heather; Rufibach, Laura; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Boisserie, Jean... Journal: Journal of cachexia, sarcopenia and muscle Issue: Volume 13:Issue 3(2022) Page Start: 1850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Water T2 could predict functional decline in patients with dysferlinopathy. Issue 6 (4th September 2022) Authors: Moore, Ursula; Caldas de Almeida Araújo, Ericky; Reyngoudt, Harmen; Gordish‐Dressman, Heather; Smith, Fiona E.; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; Day, John W.; Jones, Kristi J.; Bharucha‐Goebel, Diana X.; Salort‐Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Pa... Journal: Journal of cachexia, sarcopenia and muscle Issue: Volume 13:Issue 6(2022) Page Start: 2888 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗