Achievements
Muscular Dystrophy UK Centre of Clinical Excellence with Research.
Contributing author to 'Allied Health Professionals Neuromuscular Hub: Empowering Allied Health Professionals to support adults living with neuromuscular conditions': Laura Room
National network - SMA REACH Steering Committee: Dr Sithara Ramdas
BPNA Muscle Interest Group Secretary: Dr Sithara Ramdas
Start of recruitment of Active NBS: An International Federated Model for Wearable-derived Remote Longitudinal Motor Monitoring in Young Children With Spinal Muscular Atrophy Compared With Healthy Controls: Active-NBS Study (UK) (Active-NBS UK): (NCT07543003): Dr Charlotte Lilien
Co-lead for National UK SMA Care Exercise workshop: Dr Charlotte Lilien
Presentations at conference
'Development of a clinical follow up pathway for infants diagnosed with Spinal Muscular Atrophy (SMA) through newborn screening (NBS) in the UK” – SMA Europe international clinical care symposium 2025: Francesca Henderson
'Findings from a natural history study of congenital myasthenic syndromes to establish reliable clinical outcome measures' – World Muscle Society Congress 2025: Hayley Ramjattan
Publications
'Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.' Rossini E, Henehan L, Dong YY, Bettolo CM, Munot P, Jungbluth H, Norwood F, Hughes I, Beeson D, Ramdas S, Palace J. Muscle Nerve. 2026 Jan;73(1):79-85. doi: 10.1002/mus.70063. Epub 2025 Nov 18.
'An observational longitudinal study of congenital myasthenic syndromes.' Ramjattan H, Henehan L, Ramdas S, Palace J. Neuromuscul Disord. 2025 Sep;54:106209. doi: 10.1016/j.nmd.2025.106209. Epub 2025 Aug 24.
'Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?' Ramdas S, Dong YY, Munot P, Natera de Benito D, Nascimento Osorio A, Maggi L, Bönnemann CG, McAnally M, Schara-Schmidt U, Della Marina A, Kostera-Pruszczyk A, Milone M, Evoli A, Jungbluth H, Lochmüller H, Beeson D, Reddel S, Palace J. Brain. 2026 Jun 3;149(6):1816-1818. doi: 10.1093/brain/awag035.
'Epidemiology and 10-year clinical care of juvenile myasthenia gravis in England: a retrospective cohort study.' Abbasi A, Bonar K, Zaremba P, Scowcroft A, Nilius S, Tennigkeit F, Jacob S, Ramdas S. BMJ Neurol Open. 2025 Mar 31;7(1):e001000. doi: 10.1136/bmjno-2024-001000. eCollection 2025.
'Mixed connective tissue disease presenting with recurrent rhabdomyolysis.' Kent L, Butterworth R, Hofer M, Giavri E, Brady S. BMJ Case Rep. 2025 Nov 23;18(11):e267167. doi: 10.1136/bcr-2025-267167.
'Access to care for adults living with spinal muscular atrophy in the UK.' Muni-Lofra R, Borland H, Nevin K, Rutherford A, Dungavel A, Michell-Sodhi J, Chatfield S, Pape K, Rose A, Fenty P, Martin G, Narayan S, Bartram E, Emery N, Marco MD, Manchester E, White N, Tomos H, Davies E, Morris F, Carver A, Karkkainen E, Page J, Norwood F, Davis H, Walters RJ, Dougan CF, Shanmugarajah PD, Farrugia ME, Willis TA, Brady S, Kiss-Csenki A, Merrison A, Sedehizadeh S, Brierley C, Davies NP, Galtrey CM, Parton M, Lilleker JB, Hewamadduma C, Bettolo CM. BMJ Neurol Open. 2026 Jun 23;8(1):e001545. doi: 10.1136/bmjno-2025-001545. eCollection 2026.
“The Effect of Corticosteroids on Pulmonary Function in a Large Cohort of Late Adolescents and Adults With Duchenne Muscular Dystrophy.” Pietrusz A, Stimpson G, Astin R, Guglieri M, Desikan M, Schiava M, Brady S, Soleimani B, Freebody J, Nickol A, Michaelides G, Ramdharry G, Savvatis K, James MK, Lofra RM, Bettolo CM, Muntoni F, Quinlivan R. Muscle Nerve. 2026 Sep;74(3):570-579. doi: 10.1002/mus.70312. Epub 2026 Jun 18.
'Emerging Treatment Options for Inclusion Body Myositis.' Lilleker JB, Brady S. Rheum Dis Clin North Am. 2025 Nov;51(4):609-621. doi: 10.1016/j.rdc.2025.07.006. Epub 2025 Sep 9.
'Clinicopathological collaboration in adult muscle disease: a pragmatic pathway to approach diagnostic dilemmas.' Hofer M, Brady S. Pathology. 2025 Mar;57(2):220-229. doi: 10.1016/j.pathol.2024.10.004. Epub 2024 Nov 13.
'A systematic review on motor outcome measures in congenital myopathy.' Woods M, Fisher G, Johnson S, Lilien C, Servais L. Neuromuscul Disord. 2025 Jun;51:105392. doi: 10.1016/j.nmd.2025.105392. Epub 2025 May 17.
'Rehabilitation research in spinal muscular atrophy: a call to action.' Lilien C, Nelson L, Edel L, Forrest D, Estilow T, McGrattan KE, Duong T, Coratti G. J Neuromuscul Dis. 2026 May;13(3):232-247. doi: 10.1177/22143602251364945. Epub 2025 Aug 25.
'Pushing the boundaries: future directions in the management of spinal muscular atrophy.' Moultrie F, Chiverton L, Hatami I, Lilien C, Servais L. Trends Mol Med. 2025 Apr;31(4):307-318. doi: 10.1016/j.molmed.2024.12.006. Epub 2025 Jan 9.
'Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial.' Mazurkiewicz-Bełdzińska M, Servais L, Baranello G, Boespflug-Tanguy O, Day JW, Deconinck NP, Klein A, Masson R, Mercuri EM, Rose KJ, Vlodavets DV, Xiong H, Zanoteli E, El-Khairi M, Gaki E, Kuthiala M, Gorni K, Kletzl H, Palfreeman L, Darras BT; FIREFISH Study Group. Lancet Child Adolesc Health. 2026 Sep;10(9):625-636. doi: 10.1016/S2352-4642(26)00126-4. Epub 2026 Jul 1.
'Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy.' Chesshyre M, Ridout D, Stimpson G, Servais L, Baranello G, Manzur A; UK NorthStar Clinical Network; Muntoni F. Ann Clin Transl Neurol. 2025 Sep;12(9):1732-1742. doi: 10.1002/acn3.70097. Epub 2025 Jun 24.
'A real-world analysis of the impact of X-linked myotubular myopathy on caregivers in the United States.' Duong T, Haselkorn T, Miller B, Coats J, Jensen I, Ward E, Wood M, Graham RJ, Servais L. Orphanet J Rare Dis. 2025 May 12;20(1):224. doi: 10.1186/s13023-025-03583-w.
'Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.' Chesshyre M, Ridout D, Stimpson G, Ricotti V, De Lucia S, Niks EH, Straub V, Servais L, Hogrel JY, Baranello G, Manzur A; UK NorthStar Clinical Network; Muntoni F; iMDEX Network. Dev Med Child Neurol. 2025 Oct;67(10):1280-1289. doi: 10.1111/dmcn.16282. Epub 2025 Mar 14.
'Advancing treatment of spinal muscular atrophy through inhibition of the myostatin signaling pathway.' Finkel RS, Crawford TO, Darras BT, Brown T, Gueye M, Schroth M, Krueger JM, Servais L. Expert Rev Neurother. 2026 Mar;26(3):211-225. doi: 10.1080/14737175.2026.2621405. Epub 2026 Jan 28.
'2025 for neuromuscular diseases: a year of multiple advances.' Servais L. Lancet Neurol. 2026 Jan;25(1):22-24. doi: 10.1016/S1474-4422(25)00438-7.
'Gene therapy approval for Duchenne muscular dystrophy: a European perspective.' Jolly H, Aartsma-Rus A, Bertini E, De Waele L, Haberlova J, Klein A, Niks E, Servais L. Lancet. 2025 May 3;405(10489):1572-1573. doi: 10.1016/S0140-6736(25)00717-2.
