1. 29 Development of a novel weight-based steroid emergency plan for patients with Duchenne Muscular Dystrophy. (15th December 2021) Authors: Tollerfield, Sally; Atterbury, Abigail; Wadey (nee Antell), Hannah; Craig, Sian; Smith, Natalie; Sarkozy, Anna; Manzur, Adnan; Dattani, Mehul; Hoskins, Steve; Katugampola, Harshini Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 3 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 49 Evaluation of a new multidisciplinary clinic for the endocrine assessment of patients with duchenne muscular dystrophy. (23rd February 2023) Authors: Malhotra, Neha; Sarkozy, Anna; Allgrove, Jeremy; Brain, Caroline; Manzur, Adnan; Chesover, Alexander Journal: Archives of disease in childhood Issue: Volume 108(2023)Supplement 1 Page Start: A18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 53 The use of virtual focus groups to evaluate and develop the new neuromuscular clinical and physiotherapy provision for non-ambulant boys with Duchenne muscular dystrophy. (15th December 2021) Authors: Burnett, Nicola; Crook, Victoria; Sarkozy, Anna Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 3 Page Start: A20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report. Issue 3 (13th July 2019) Authors: Dolader, Paola; Field, Ella; Sarkozy, Anna; Kaski, Juan Pablo Editors: Dinov, Borislav; Rodríguez-Zanella, Hugo; Gebauer, Roman; Mukherjee, Rahul; Mehta, Vishal Shahil Journal: European heart journal Issue: Volume 3:Issue 3(2019) Page Start: 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. 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) ↗
8. Cover Image, Volume 39, Issue 10. Issue 10 (19th September 2018) Authors: Ferese, Rosangela; Bonetti, Monica; Consoli, Federica; Guida, Valentina; Sarkozy, Anna; Lepri, Francesca Romana; Versacci, Paolo; Gambardella, Stefano; Calcagni, Giulio; Margiotti, Katia; Piceci Sparascio, Francesca; Hozhabri, Hossein; Mazza, Tommaso; Digilio, Maria Cristina; Dallapiccola, Bruno;... Journal: Human mutation Issue: Volume 39:Issue 10(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early clinical and pre-clinical therapy development in Nemaline myopathy. (3rd October 2022) Authors: Fisher, Gemma; Mackels, Laurane; Markati, Theodora; Sarkozy, Anna; Ochala, Julien; Jungbluth, Heinz; Ramdas, Sithara; Servais, Laurent Journal: Expert opinion on therapeutic targets Issue: Volume 26:Number 10(2022) Page Start: 853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Issue 9 (20th November 2009) Authors: De Luca, Alessandro; Sarkozy, Anna; Consoli, Federica; Ferese, Rosangela; Guida, Valentina; Dentici, Maria Lisa; Mingarelli, Rita; Bellacchio, Emanuele; Tuo, Giulia; Limongelli, Giuseppe; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno Journal: Heart Issue: Volume 96:Issue 9(2010) Page Start: 673 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗