1. New aspects on patients affected by dysferlin deficient muscular dystrophy. Issue 9 (14th June 2009) Authors: Klinge, Lars; Aboumousa, Ahmed; Eagle, Michelle; Hudson, Judith; Sarkozy, Anna; Vita, Gianluca; Charlton, Richard; Roberts, Mark; Straub, Volker; Barresi, Rita; Lochmüller, Hanns; Bushby, Kate Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81:Issue 9(2010) Page Start: 946 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. Issue 3 (13th March 2013) Authors: Pfeffer, Gerald; Barresi, Rita; Wilson, Ian J; Hardy, Steven A; Griffin, Helen; Hudson, Judith; Elliott, Hannah R; Ramesh, Aravind V; Radunovic, Aleksandar; Winer, John B; Vaidya, Sujit; Raman, Ashok; Busby, Mark; Farrugia, Maria E; Ming, Alec; Everett, Chris; Emsley, Hedley C A; Horvath, Rita; S... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 3(2014) Page Start: 331 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?. Issue 10 (31st May 2016) Authors: Alshaikh, Nahla; Brunklaus, Andreas; Davis, Tracey; Robb, Stephanie A; Quinlivan, Ros; Munot, Pinki; Sarkozy, Anna; Muntoni, Francesco; Manzur, Adnan Y Journal: Archives of disease in childhood Issue: Volume 101:Issue 10(2016) Page Start: 957 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials. Issue 11 (10th October 2020) Authors: Silwal, Arpana; Sarkozy, Anna; Scoto, Mariacristina; Ridout, Deborah; Schmidt, Anne; Laverty, Aidan; Henriques, Matilde; D'Argenzio, Luigi; Main, Marion; Mein, Rachael; Manzur, Adnan Y; Abel, Francois; Al‐Ghamdi, Fouad; Genetti, Casie A; Ardicli, Didem; Haliloglu, Goknur; Topaloglu, Haluk; Beggs,... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 11(2020) Page Start: 2288 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. Issue 7 (3rd February 2018) Authors: Sarkozy, Anna; Torelli, Silvia; Mein, Rachael; Henderson, Matt; Phadke, Rahul; Feng, Lucy; Sewry, Caroline; Ala, Pierpaolo; Yau, Michael; Bertoli, Marta; Willis, Tracey; Hammans, Simon; Manzur, Adnan; Sframeli, Maria; Norwood, Fiona; Rakowicz, Wojtek; Radunovic, Aleksandar; Vaidya, Sujit S; Parto... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 7(2018) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Bisphosphonate use in Duchenne Muscular Dystrophy – why, when to start and when to stop?. (2nd April 2016) Authors: Wood, Claire L.; Marini Bettolo, Chiara; Bushby, Kate; Straub, Volker; Rawlings, David; Sarkozy, Anna; Owen, Catherine; Cheetham, Timothy D. Journal: Expert opinion on orphan drugs Issue: Volume 4:Number 4(2016:Apr.) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GGPS1‐associated muscular dystrophy with and without hearing loss. Issue 9 (23rd July 2022) Authors: Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S.; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier‐Barrot, Sandrine; Isapof... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 9(2022) Page Start: 1465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Issue 8 (4th May 2016) Authors: Rodríguez Cruz, Pedro M; Belaya, Katsiaryna; Basiri, Keivan; Sedghi, Maryam; Farrugia, Maria Elena; Holton, Janice L; Liu, Wei Wei; Maxwell, Susan; Petty, Richard; Walls, Timothy J; Kennett, Robin; Pitt, Matthew; Sarkozy, Anna; Parton, Matt; Lochmüller, Hanns; Muntoni, Francesco; Palace, Jacqueli... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 8(2016) Page Start: 802 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Two recurrent mutations are associated with GNE myopathy in the North of Britain. Issue 12 (2nd April 2014) Authors: Chaouch, Amina; Brennan, Kathryn M; Hudson, Judith; Longman, Cheryl; McConville, John; Morrison, Patrick J; Farrugia, Maria E; Petty, Richard; Stewart, Willie; Norwood, Fiona; Horvath, Rita; Chinnery, Patrick F; Costigan, Donald; Winer, John; Polvikoski, Tuomo; Healy, Estelle; Sarkozy, Anna; Evan... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 12(2014) Page Start: 1359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Issue 8 (6th June 2017) Authors: Nasca, Alessia; Scotton, Chiara; Zaharieva, Irina; Neri, Marcella; Selvatici, Rita; Magnusson, Olafur Thor; Gal, Aniko; Weaver, David; Rossi, Rachele; Armaroli, Annarita; Pane, Marika; Phadke, Rahul; Sarkozy, Anna; Muntoni, Francesco; Hughes, Imelda; Cecconi, Antonella; Hajnóczky, György; Donati,... Journal: Human mutation Issue: Volume 38:Issue 8(2017) Page Start: 970 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗