Publications and communications of Laurent Servais

Dangouloff, T., Chantraine, F., Hennuy, N., Rigo, V., Tribolet, S., Vanden Brande, L., & Servais, L. (2026). Elective Preterm Birth for Earlier Spinal Muscular Atrophy Treatment. Molecular Therapy: Methods and Clinical Development, 201673. doi:10.1016/j.omta.2026.201673

González Barral, C., & Servais, L. (2026). Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials. Journal of Neuromuscular Diseases, 22143602241296280. doi:10.1177/22143602241296280

Poleur, M., Gidaro, T., DELSTANCHE, S., Gurruchaga, J.-M., Tricot, A., Bancel, L., Palfi, S., Servais, L., & Degos, B. (27 November 2025). Wearable inertial device for monitoring Parkinson's disease symptoms: a pilot study in a controlled environment. Scientific Reports, 15 (1), 45479. doi:10.1038/s41598-025-28927-1

Hovhannesyan, K., Helou, L., Charloteaux, B., JACQUEMIN, V., Piazzon, F., Mni, M., Flohimont, C., Fasquelle, C., Mashhadizadeh, D., Dangouloff, T., Bours, V., Servais, L., Palmeira, L., & Boemer, F. (13 November 2025). Analytical Validation of a Genomic Newborn Screening Workflow. International Journal of Neonatal Screening, 11 (4), 91. doi:10.3390/ijns11040091

Boemer, F., & Servais, L. (2025). Genomic Newborn Screening-A Long Road From Pilot to Public Policy. JAMA Pediatrics. doi:10.1001/jamapediatrics.2025.3639

Bartoszek, P., Boemer, F., Hovhannesyan, K., JACQUEMIN, V., Piazzon, F., Mashhadizadeh, D., Bours, V., HELOU, L., Rigo, V., HENNUY, N., Dangouloff, T., & Servais, L. (01 October 2025). Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect. International Ophthalmology Clinics, 65 (4), 47 - 50. doi:10.1097/IIO.0000000000000593

Boemer, F., Hovhannesyan, K., JACQUEMIN, V., Mni, M., Flohimont, C., Mashhadizadeh, D., HELOU, L., Palmeira, L., Dangouloff, T., & Servais, L. (October 2025). Population-based 1st-tier Genomic Newborn Screening : Results of BabyDetect Study [Poster presentation]. ICoNS 2025, Londres, United Kingdom.

Crawford, T. O., Servais, L., Mercuri, E., Kölbel, H., Kuntz, N., Finkel, R. S., Krueger, J., Batley, K., Young, S. D., Marantz, J. L., Song, G., Yao, B., Zhao, G., Rossello, J., Tirucherai, G. S., Mazzone, E. S., Butterfield, R. J., de la Banda, M. G. G., Seferian, A. M., ... Castellano, I. P. (Other coll.). (September 2025). Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet Neurology, 24 (9), 727-739. doi:10.1016/S1474-4422(25)00225-X

Mouraux, C., Dangouloff, T., Poleur, M., Mackels, L., Vanden Brande, L., Daron, A., Servais, L., Maertens de Noordhout, A., & DELSTANCHE, S. (29 August 2025). Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium. Orphanet Journal of Rare Diseases, 20 (1), 464. doi:10.1186/s13023-025-03963-2

Finkel, R. S., Servais, L., Vlodavets, D., Zanoteli, E., Mazurkiewicz-Bełdzińska, M., Jong, Y.-J., Navas-Nazario, A., Al-Muhaizea, M., Araujo, A. P. Q. C., Nelson, L., Wang, Y., Jaber, B., Gorni, K., Kletzl, H., Palfreeman, L., Rabbia, M., Summers, D., Gaki, E., Wagner, K. R., ... Wells, J. (Other coll.). (14 August 2025). Risdiplam in Presymptomatic Spinal Muscular Atrophy. New England Journal of Medicine, 393 (7), 671-682. doi:10.1056/NEJMoa2410120

Olkhovych, N.* , Samonenko, N.* , Shkliarska, T., Hill, S., Grechanina, O., Veropotvelyan, M., Makukh, H., Barvinska, O., Mytsyk, N., Dangouloff, T., Ivanova, T., Servais, L.* , & Gorovenko, N.*. (July 2025). Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme. The Lancet Regional Health. Europe, 54, 101351. doi:10.1016/j.lanepe.2025.101351
* These authors have contributed equally to this work.

Dangouloff, T., Hovhannesyan, K., JACQUEMIN, V., Mashhadizadeh, D., Mni, M., Flohimont, C., HELOU, L., PALMEIRA, L., Pieltain, C., Grandfils, S., Rigo, V., HENNUY, N., Boemer, F., & Servais, L. (June 2025). Dépistage néonatal génomique : vers une identification précoce et ciblée des maladies rares. Percentile, 30 (3), 15-18.

Minten, T., Bick, S., Adelson, S., Gehlenborg, N., Amendola, L. M., Boemer, F., Coffey, A. J., Encina, N., Ferlini, A., Kirschner, J., Russell, B. E., Servais, L., Sund, K. L., Taft, R. J., Tsipouras, P., Zouk, H., ICoNS Gene List Contributors, Green, R. C., Gold, N. B., ... Nusair, A. (2025). Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genetics in Medicine, 101443. doi:10.1016/j.gim.2025.101443

Martin, C., & Servais, L. (April 2025). X-linked myotubular myopathy: an untreated treatable disease. Expert Opinion on Biological Therapy, 25 (4), 379 - 394. doi:10.1080/14712598.2025.2473430

Moultrie, F., Chiverton, L., Hatami, I., Lilien, C., & Servais, L. (April 2025). Pushing the boundaries: future directions in the management of spinal muscular atrophy. Trends in Molecular Medicine, 31 (4), 307 - 318. doi:10.1016/j.molmed.2024.12.006

Chesshyre, M., Ridout, D., Stimpson, G., Ricotti, V., De Lucia, S., Niks, E. H., Straub, V., Servais, L., Hogrel, J.-Y., Baranello, G., Manzur, A., UK NorthStar Clinical Network, Muntoni, F., & iMDEX Network. (2025). Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy. Developmental Medicine and Child Neurology. doi:10.1111/dmcn.16282

Tychon, C., Poleur, M., & Servais, L. (14 March 2025). Walking speed during daily living, a systematic review [Poster presentation]. BAoP Congress, Mons, Belgium.

Servais, L., Dangouloff, T., Muntoni, F., Scoto, M., & Baranello, G. (22 February 2025). Spinal muscular atrophy in the UK: the human toll of slow decisions. The Lancet, 405 (10479), 619 - 620. doi:10.1016/S0140-6736(25)00048-0

González Barral, C., & Servais, L. (2025). Wearable sensors in paediatric neurology. Developmental Medicine and Child Neurology. doi:10.1111/dmcn.16239

Boemer, F., Hovhannesyan, K., Piazzon, F., MINNER, F., Mni, M., Jacquemin, V., Mashhadizadeh, D., BENMHAMMED, N., Bours, V., Jacquinet, A., Harvengt, J., Bulk, S., Dideberg, V., Helou, L., Palmeira, L., Dangouloff, T., BabyDetect Expert Panel, Servais, L., Alkan, S. (Other coll.), ... Vaessen, S. (Other coll.). (28 January 2025). Population-based, first-tier genomic newborn screening in the maternity ward. Nature Medicine, 31 (4), 1339-1350. doi:10.1038/s41591-024-03465-x

Dangouloff, T., Lang, H., BENMHAMMED, N., & Servais, L. (2025). Newborn screening and rapid genomic diagnosis of neuromuscular diseases. Journal of Neuromuscular Diseases, 22143602241296286. doi:10.1177/22143602241296286

Pereira, C. D., Espadas, G., Martins, F., Bertrand, A. T., Servais, L., Sabidó, E., Chevalier, P., da Cruz E Silva, O. A. B., & Rebelo, S. (10 December 2024). LAP1 Interactome Profiling Provides New Insights into LAP1's Physiological Functions. International Journal of Molecular Sciences, 25 (24), 13235. doi:10.3390/ijms252413235

De Waele, L., & Servais, L. (2024). Treatment strategies for patients with spinal muscular atrophy. Expert Review of Neurotherapeutics. doi:10.1080/14737175.2024.2439486

Servais, L. (December 2024). Gene therapy for spinal muscular atrophy: timing is key. The Lancet Regional Health. Europe, 47, 101112. doi:10.1016/j.lanepe.2024.101112

Servais, L., Strijbos, P., Poleur, M., Mirea, A., Butoianu, N., Sansone, V. A., Vuillerot, C., Schara-Schmidt, U., Scoto, M., Seferian, A. M., Previtali, S. C., Tulinius, M., Nascimento, A., Furlong, P., Singh, T., Dreghici, R. D., Goemans, N., Mercuri, E., Straub, V., ... Eggenspieler, D. (29 November 2024). Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint. Scientific Reports, 14 (1), 29681. doi:10.1038/s41598-024-80177-9

Servais, L., & Moreno, C. A. M. (2024). Spinal muscular atrophy in Brazil: from individual treatment to global management. Jornal de Pediatria. doi:10.1016/j.jped.2024.11.001

Prigogine, C., Ruiz, J. M., Cebolla, A. M., Deconinck, N., Servais, L., Gailly, P., Dan, B., & Cheron, G. (November 2024). Cerebellar dysfunction in the mdx mouse model of Duchenne muscular dystrophy: An electrophysiological and behavioural study. European Journal of Neuroscience, 60 (10), 6470 - 6489. doi:10.1111/ejn.16566

Tizzano, E. F., Quijano-Roy, S., Servais, L., Parsons, J. A., Aharoni, S., Lakhotia, A., Finkel, R. S., & RESTORE Study Group. (November 2024). Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec. European Journal of Paediatric Neurology, 53, 18 - 24. doi:10.1016/j.ejpn.2024.08.006

Vrščaj, E., Dangouloff, T., Osredkar, D., Servais, L., & SMA NBS World Study Group. (November 2024). Newborn screening programs for spinal muscular atrophy worldwide in 2023. Journal of Neuromuscular Diseases, 11 (6), 1180 - 1189. doi:10.1177/22143602241288095

Stemmerik, M. G., Tasca, G., Gilhus, N. E., Servais, L., Vicino, A., Maggi, L., Sansone, V., & Vissing, J. (2024). Biological biomarkers in muscle diseases relevant for follow-up and evaluation of treatment. Brain: a Journal of Neurology. doi:10.1093/brain/awae323

Lorentzos, M., Parsons, J. A., Jones, K. J., Servais, L., & Treat NMD Early Diagnosis Workshop Participants. (02 October 2024). Early diagnosis of Duchenne muscular dystrophy - A Treat-NMD international workshop. Neuromuscular Disorders, 45, 104467. doi:10.1016/j.nmd.2024.104467

Vrellaku, B., Sethw Hassan, I., Howitt, R., Webster, C. P., Harriss, E., McBlane, F., Betts, C., Schettini, J., Lion, M., Mindur, J. E., Duerr, M., Shaw, P. J., Kirby, J., Azzouz, M., & Servais, L. (02 October 2024). A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders. Molecular Therapy, 32 (10), 3220 - 3259. doi:10.1016/j.ymthe.2024.07.016

Becker, M. M., Nardes, F., Dangouloff, T., Servais, L., Araujo, A. P. D. Q. C., & Gurgel-Giannetti, J. (October 2024). Why should a 5q spinal muscular atrophy neonatal screening program be started? Arquivos de Neuro-Psiquiatria, 82 (10), 1 - 9. doi:10.1055/s-0044-1791201

Poleur, M., Parinello, G., Vrščaj, E., Kumhera, M., Bisson, C., Aragon-Gawińska, K., Anghelescu, C., Daron, A., Szabo, L., Leanca, M., Mirea, A., Kodsy, S., Saleh, A., Osredkar, D., Haberlova, J., Potulska-Chromik, A., Butoianu, N., Eggenspieler, D., Strijbos, P., & Servais, L. (October 2024). 400P Longitudinal evaluation of ambulatory function with ankle wearable technology in ambulant DMD. Neuromuscular Disorders, 43, 104441.128. doi:10.1016/j.nmd.2024.07.137

Servais, L., Lair, L. L., Connolly, A. M., Byrne, B. J., Chen, K. S., Coric, V., Qureshi, I., Durham, S., Campbell, D. J., Maclaine, G., Marin, J., & Bechtold, C. (24 September 2024). Taldefgrobep Alfa and the Phase 3 RESILIENT Trial in Spinal Muscular Atrophy. International Journal of Molecular Sciences, 25 (19), 10273. doi:10.3390/ijms251910273

Minten, T., Gold, N. B., Bick, S., Adelson, S., Gehlenborg, N., Amendola, L. M., Boemer, F., Coffey, A. J., Encina, N., Ferlini, A., Kirschner, J., Russell, B. E., Servais, L., Sund, K. L., Taft, R. J., Tsipouras, P., Zouk, H., ICoNS Gene List Contributors, Bick, D., ... International Consortium on Newborn Sequencing (ICoNS). (2024). Data-driven prioritization of genetic disorders for global genomic newborn screening programs. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/325175. doi:10.1101/2024.03.24.24304797

Pereira, C. D., Espadas, G., Martins, F., Bertrand, A. T., Servais, L., Sabidó, E., Chevalier, P., da Cruz E Silva, O. A. B., & Rebelo, S. (September 2024). Quantitative proteome analysis of LAP1-deficient human fibroblasts: A pilot approach for predicting the signaling pathways deregulated in LAP1-associated diseases. Biochemistry and Biophysics Reports, 39, 101757. doi:10.1016/j.bbrep.2024.101757

Mackels, L., Mariot, V., Buscemi, L., Servais, L., & Dumonceaux, J. (12 August 2024). Impact of Disease Severity and Disease-Modifying Therapies on Myostatin Levels in SMA Patients. International Journal of Molecular Sciences, 25 (16), 8763. doi:10.3390/ijms25168763

Schroth, M., Deans, J., Arya, K., Castro, D., De Vivo, D. C., Gibbons, M. A., Ionita, C., Kuntz, N. L., Lakhotia, A., Neil Knierbein, E., Scoto, M., Sejersen, T., Servais, L., Tian, C., Waldrop, M. A., & Vázquez-Costa, J. F. (August 2024). Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations. Neurology: Clinical Practice, 14 (4), 200310. doi:10.1212/CPJ.0000000000200310

Dangouloff, T., Hovhannesyan, K., Mashhadizadeh, D., MINNER, F., Mni, M., Helou, L., Piazzon, F., Palmeira, L., Boemer, F., & Servais, L. (30 July 2024). Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children, 11 (8), 926. doi:10.3390/children11080926

Kirschner, J., Bernert, G., Butoianu, N., De Waele, L., Fattal-Valevski, A., Haberlova, J., Moreno, T., Klein, A., Kostera-Pruszczyk, A., Mercuri, E., Quijano-Roy, S., Sejersen, T., Tizzano, E. F., van der Pol, W. L., Wallace, S., Zafeiriou, D., Ziegler, A., Muntoni, F., & Servais, L. (July 2024). 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. European Journal of Paediatric Neurology, 51, 73 - 78. doi:10.1016/j.ejpn.2024.06.001

Ramdas, S., Oskoui, M., & Servais, L. (July 2024). Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians. Drugs, 84 (7), 747 - 762. doi:10.1007/s40265-024-02051-2

Schwotzer, N., El Sissy, C., Desguerre, I., Frémeaux-Bacchi, V., Servais, L., & Fakhouri, F. (July 2024). Thrombotic Microangiopathy as an Emerging Complication of Viral Vector-Based Gene Therapy. Kidney International Reports, 9 (7), 1995 - 2005. doi:10.1016/j.ekir.2024.04.024

Lilien, C., Vrscaj, E., Thapaliya, G., Deconinck, N., De Waele, L., Duong, T., Haberlová, J., Kumhera, M., Peirens, G., Szabo, L., Tahon, V., Tang, W. J., BENMHAMMED, N., Medard, L., & Servais, L. (11 June 2024). Patients' Perceptions of Nusinersen Effects According to Their Responder Status. Journal of Clinical Medicine, 13 (12), 3418. doi:10.3390/jcm13123418

Oskoui, M., Dangouloff, T., & Servais, L. (01 June 2024). Universal Newborn Screening for Spinal Muscular Atrophy. JAMA Pediatrics, 178 (6), 520 - 521. doi:10.1001/jamapediatrics.2024.0489

Poleur, M., Nemr, A., Bancel, L., Parinello, G., Cluzeau, C., Bechichi, Y., DELSTANCHE, S., & Servais, L. (09 April 2024). Digital Outcome Measure Assessing the Motor Function of Patients with Amyotrophic Lateral Sclerosis (P5-11.011) [Poster presentation]. American Academy of Neurology. doi:10.1212/wnl.0000000000205650

Poleur, M., Willekens, B., Degos, B., Ricard, D., Van Pesch, V., Tricot, A., Medard, L., Li, H., Lommers, E., Michaud, M., Strijbos, P., Overell, J., Cluzeau, C., Eggenspieler, D., & Servais, L. (09 April 2024). Reliability and External Validity of Digital Passive Gait Tracking in MS (P6-6.008) [Poster presentation]. American Academy of Neurology. doi:10.1212/wnl.0000000000206099

Sanson, M., Vu Hong, A., Massourides, E., Bourg, N., Suel, L., Amor, F., Corre, G., Bénit, P., Barthelemy, I., Blot, S., Bigot, A., Pinset, C., Rustin, P., Servais, L., Voit, T., Richard, I., & Israeli, D. (28 March 2024). Author Correction: miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy. Scientific Reports, 14 (1), 7441. doi:10.1038/s41598-024-57483-3

Perrin, A., Métay, C., Savarese, M., Ben Yaou, R., Demidov, G., Nelson, I., Solé, G., Péréon, Y., Bertini, E. S., Fattori, F., D'Amico, A., Ricci, F., Ginsberg, M., Seferian, A., Boespflug-Tanguy, O., Servais, L., Chapon, F., Lagrange, E., Gaudon, K., ... Cossée, M. (21 March 2024). Titin copy number variations associated with dominant inherited phenotypes. Journal of Medical Genetics, 61 (4), 369 - 377. doi:10.1136/jmg-2023-109473

Beloribi-Djefaflia, S., Morales, R. J., Fatehi, F., Isapof, A., Servais, L., Leonard-Louis, S., Michaud, M., Verdure, P., Gidaro, T., Pouget, J., Poinsignon, V., Bonello-Palot, N., & Attarian, S. (March 2024). Clinical and genetic features of patients suffering from CMT4J. Journal of Neurology, 271 (3), 1355 - 1365. doi:10.1007/s00415-023-12076-4

Gowda, V., Atherton, M., Murugan, A., Servais, L., Sheehan, J., Standing, E., Manzur, A., Scoto, M., Baranello, G., Munot, P., McCullagh, G., Willis, T., Tirupathi, S., Horrocks, I., Dhawan, A., Eyre, M., Vanegas, M., Fernandez-Garcia, M. A., Wolfe, A., ... Wraige, E. (February 2024). Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom. The Lancet Regional Health. Europe, 37, 100817. doi:10.1016/j.lanepe.2023.100817

Van Tienen, J., van Geenen, C., Voet, N. B., Servais, L., & Voermans, N. C. (26 January 2024). My trial and training journey in X-linked myotubular myopathy: mountains and valleys. Neuromuscular Disorders, 36, 23 - 27. doi:10.1016/j.nmd.2024.01.008

Decostre, V., De Antonio, M., Servais, L., & Hogrel, J.-Y. (2024). Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials. Journal of Neuromuscular Diseases, 11 (4), 777 - 790. doi:10.3233/JND-230182

Mackels, L., & Servais, L. (2024). The Importance of Early Treatment of Inherited Neuromuscular Conditions. Journal of Neuromuscular Diseases, 11 (2), 253 - 274. doi:10.3233/JND-230189

Martí, Y., Aponte Ribero, V., Batson, S., Mitchell, S., Gorni, K., Gusset, N., Oskoui, M., Servais, L., Deconinck, N., McGrattan, K. E., Mercuri, E., & Sutherland, C. S. (2024). A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA). Journal of Neuromuscular Diseases, 11 (5), 889 - 904. doi:10.3233/JND-230248

Minten, T., Adelson, S., Amendola, L., Bick, D., Boemer, F., Coffey, A., Encina, N., Russell, B., Servais, L., Sund, K., Taft, R., Green, R., & Gold, N. (2024). P213: Exploring heterogeneity among gene lists proposed for newborn sequencing. Genetics in Medicine Open, 2, 101110. doi:10.1016/j.gimo.2024.101110

Muntoni, F., Signorovitch, J., Sajeev, G., Done, N., Yao, Z., Goemans, N., McDonald, C., Mercuri, E., Niks, E. H., Wong, B., Vandenborne, K., Straub, V., de Groot, I. J. M., Tian, C., Manzur, A., Dieye, I., Lane, H., Ward, S. J., Servais, L., ... cTAP. (2024). Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study. PLoS ONE, 19 (7), 0304984. doi:10.1371/journal.pone.0304984

Rabbia, M., Guridi Ormazabal, M., Staunton, H., Veenstra, K., Eggenspieler, D., Annoussamy, M., Servais, L., & Strijbos, P. (2024). Stride Velocity 95th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases, 11 (3), 701 - 714. doi:10.3233/JND-230188

Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., Proud, C. M., Shieh, P. B., Tizzano, E. F., Quijano-Roy, S., Desguerre, I., Saito, K., Faulkner, E., Benguerba, K. M., Raju, D., LaMarca, N., Sun, R., Anderson, F. A., & Finkel, R. S. (2024). Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. Journal of Neuromuscular Diseases, 11 (2), 425 - 442. doi:10.3233/JND-230122

Vanden Brande, L., Bauché, S., Pérez-Guàrdia, L., Sternberg, D., Seferian, A. M., Malfatti, E., Silva-Rojas, R., Labasse, C., Chevessier, F., Carlier, P., Eymard, B., Romero, N. B., Laporte, J., Servais, L., Gidaro, T., & Böhm, J. (2024). Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation. Neuropathology and Applied Neurobiology, 50 (1), 12952. doi:10.1111/nan.12952

Shieh, P. B., Kuntz, N. L., Dowling, J. J., Müller-Felber, W., Bönnemann, C. G., Seferian, A. M., Servais, L., Smith, B. K., Muntoni, F., Blaschek, A., Foley, A. R., Saade, D. N., Neuhaus, S., Alfano, L. N., Beggs, A. H., Buj-Bello, A., Childers, M. K., Duong, T., Graham, R. J., ... Rico, S. (December 2023). Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. The Lancet Neurology, 22 (12), 1125 - 1139. doi:10.1016/S1474-4422(23)00313-7

Aponte Ribero, V., Martí, Y., Batson, S., Mitchell, S., Gorni, K., Gusset, N., Oskoui, M., Servais, L., & Sutherland, C. S. (21 November 2023). Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures. Neurology, 101 (21), 2103 - e2113. doi:10.1212/WNL.0000000000207878

Proud, C. M., Mercuri, E., Finkel, R. S., Kirschner, J., De Vivo, D. C., Muntoni, F., Saito, K., Tizzano, E. F., Desguerre, I., Quijano-Roy, S., Benguerba, K., Raju, D., Faulkner, E., & Servais, L. (November 2023). Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. Annals of Clinical and Translational Neurology, 10 (11), 2155 - 2160. doi:10.1002/acn3.51889

Servais, L., Horton, R., Saade, D., Bonnemann, C., Muntoni, F., & 261st ENMC workshop study group. (November 2023). 261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands. Neuromuscular Disorders, 33 (11), 884 - 896. doi:10.1016/j.nmd.2023.09.008

Poleur, M., Tricot, A., Medard, L., Gevenois, N., Lozeve, D., Maertens De Noordhout, A., Bouquiaux, O., Lommers, E., Michaud, M., Annoussamy, M., & Servais, L. (2023). Analytical validation of innovative magneto-inertial outcomes: a controlled environment study. Multiple Sclerosis Journal.

Servais, L. (October 2023). Tamoxifen in children with Duchenne muscular dystrophy. The Lancet Neurology, 22 (10), 872 - 873. doi:10.1016/S1474-4422(23)00288-0

Servais, L., Eggenspieler, D., Poleur, M., Grelet, M., Muntoni, F., Strijbos, P., & Annoussamy, M. (October 2023). First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD. Nature Medicine, 29 (10), 2391 - 2392. doi:10.1038/s41591-023-02459-5

Rogers, M., Motola, S., Bechichi, Y., Cluzeau, C., Terray, T., Berent, A., Panagoulias, J., Duis, J., Eggenspieler, D., & Servais, L. (28 August 2023). Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews. Children, 10 (9), 1462. doi:10.3390/children10091462

Poleur, M., Markati, T., & Servais, L. (02 August 2023). The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review. Orphanet Journal of Rare Diseases, 18 (1), 224. doi:10.1186/s13023-023-02813-3

Weidlich, D., Servais, L., Kausar, I., Howells, R., & Bischof, M. (August 2023). Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England. Neurology and Therapy, 12 (4), 1205 - 1220. doi:10.1007/s40120-023-00489-2

Olkhovych, N., Gorovenko, N., & Servais, L. (22 July 2023). Universal newborn screening for spinal muscular atrophy in Ukraine. The Lancet, 402 (10398), 288 - 289. doi:10.1016/S0140-6736(23)01281-3

Duis, J., Skinner, A., Carson, R., Gouelle, A., Annoussamy, M., Silverman, J. L., Apkon, S., Servais, L., & Carollo, J. (July 2023). Quantitative measures of motor development in Angelman syndrome. American Journal of Medical Genetics. Part A, 191 (7), 1711 - 1721. doi:10.1002/ajmg.a.63192

Aragon-Gawinska, K., Mouraux, C., Dangouloff, T., & Servais, L. (29 June 2023). Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review. Genes, 14 (7), 1377. doi:10.3390/genes14071377

Mercuri, E., Seferian, A. M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., & 4658-102 Study Group. (June 2023). Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping. Neuromuscular Disorders, 33 (6), 476 - 483. doi:10.1016/j.nmd.2023.03.008

HUSTINX, M., Shorrocks, A.-M., & Servais, L. (30 May 2023). Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review. Pharmaceutics, 15 (6), 1626. doi:10.3390/pharmaceutics15061626

Anthony, K., Ala, P., Catapano, F., Meng, J., Domingos, J., Perry, M., Ricotti, V., Maresh, K., Phillips, L. C., Servais, L., Seferian, A. M., De Lucia, S., de Groot, I., Krom, Y. D., Verschuuren, J. G. M., Niks, E. H., Straub, V., Guglieri, M., Voit, T., ... Muntoni, F. (May 2023). T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy. Human Gene Therapy, 34 (9-10), 439 - 448. doi:10.1089/hum.2022.166

Oskoui, M., Day, J. W., Deconinck, N., Mazzone, E. S., Nascimento, A., Saito, K., Vuillerot, C., Baranello, G., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Papp, G., Gorni, K., Kletzl, H., Martin, C., McIver, T., Scalco, R. S., Staunton, H., ... SUNFISH Working Group. (May 2023). Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology, 270 (5), 2531 - 2546. doi:10.1007/s00415-023-11560-1

Oskoui, M., Day, J. W., Deconinck, N., Mazzone, E. S., Nascimento, A., Saito, K., Vuillerot, C., Baranello, G., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Papp, G., Gorni, K., Kletzl, H., Martin, C., McIver, T., Scalco, R. S., Staunton, H., ... SUNFISH Working Group. (May 2023). Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology, 270 (5), 2547 - 2549. doi:10.1007/s00415-023-11658-6

Muntoni, F., Signorovitch, J., Sajeev, G., Lane, H., Jenkins, M., Dieye, I., Ward, S. J., McDonald, C., Goemans, N., Niks, E. H., Wong, B., Servais, L., Straub, V., Guglieri, M., de Groot, I. J. M., Chesshyre, M., Tian, C., Manzur, A. Y., Mercuri, E., ... Association Française Contre Les Myopathies; on behalf of Universitaire Ziekenhuizen Leuven Group, P.-D.-T. U. N. C. N. C. A. T. D. I. G. (11 April 2023). DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials. Neurology, 100 (15), 1540 - e1554. doi:10.1212/WNL.0000000000201626

Mackels, L., Liu, X., Bonne, G., & Servais, L. (07 April 2023). TOR1AIP1-Associated Nuclear Envelopathies. International Journal of Molecular Sciences, 24 (8), 6911. doi:10.3390/ijms24086911

Colloud, S., Metcalfe, T., Askin, S., Belachew, S., Ammann, J., Bos, E., Kilchenmann, T., Strijbos, P., Eggenspieler, D., Servais, L., Garay, C., Konstantakopoulos, A., Ritzhaupt, A., Vetter, T., Vincenzi, C., & Cerreta, F. (29 March 2023). Evolving regulatory perspectives on digital health technologies for medicinal product development. npj Digital Medicine, 6 (1), 56. doi:10.1038/s41746-023-00790-2

Ayyar Gupta, V., Pitchforth, J. M., Domingos, J., Ridout, D., Iodice, M., Rye, C., Chesshyre, M., Wolfe, A., Selby, V., Mayhew, A., Mazzone, E. S., Ricotti, V., Hogrel, J.-Y., Niks, E. H., de Groot, I., Servais, L., Straub, V., Mercuri, E., Manzur, A. Y., ... iMDEX Consortium and the U.K. NorthStar Clinical Network. (2023). Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PLoS ONE, 18 (4), 0283669. doi:10.1371/journal.pone.0283669

Bancel, L., Tricot, A., Guérin, A., Eggenspieler, D., Lilien, C., Poleur, M., & Servais, L. (2023). Digital outcome captures longitudinal degradation of upper-limb function in non-ambulant patients affected by neuromuscular disorders. Neuromuscular Disorders, 33, 80. doi:10.1016/j.nmd.2023.07.079

Muntoni, F., Straub, V., Servais, L., & Mercuri, E. (2023). Letter to the Editor: In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study, and Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases, 10 (6), 1151 - 1153. doi:10.3233/JND-239004

Ngawa, M., Dal Farra, F., Marinescu, A.-D., & Servais, L. (2023). Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy. Therapeutic Advances in Neurological Disorders, 16, 17562864231154335. doi:10.1177/17562864231154335

Ramdas, S., & Servais, L. (January 2023). Good News Never Hurts. European Journal of Paediatric Neurology, 42, 3. doi:10.1016/j.ejpn.2023.01.004

Rogers, M., Motola, S., Eggenspieler, D., Poleur, M., Parinello, G., Lozeve, D., Danon, A., Szabo, L., Aragon-Gawińska, K., Potulska-Chromik, A., Butoianu, N., Anghelescu, C., Mirea, Osredkar, D., Vrščaj, E., Golli, T., Haberlova, J., Kodsy, S., Salah, A., ... Servais, L. (2023). Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy. Neuromuscular Disorders, 33, 81. doi:10.1016/j.nmd.2023.07.080

Rogers, M., Motola, S., Eggenspieler, D., Poleur, M., Parinello, G., Lozeve, D., Danon, A., Szabo, L., Aragon-Gawińska, K., Potulska-Chromik, A., Butoianu, N., Anghelescu, C., Mirea, Osredkar, D., Vrščaj, E., Haberlova, J., Kodsy, S., Salah, A., Strijbos, P., & Servais, L. (2023). Factors affecting the measurement variability of SV95C in ambulant patients with Duchenne muscular dystrophy. Neuromuscular Disorders, 33, 82. doi:10.1016/j.nmd.2023.07.085

Vrščaj, E., Jilkova, M., Aragon-Gawinska, K., Anghelescu, C., Axente, M., Poleur, M., Daron, A., Szabo, L., Mirea, A., Kodsy, S., Saleh, A., Osredkar, D., Haberlova, J., Potulska-Chromik, A., Butoianu, N., Strijbos, P., Eggenspieler, D., & Servais, L. (2023). Longitudinal multi-centric study to assess the digital outcomes issued from wearable magneto-inertial devices in ambulant DMD. Neuromuscular Disorders, 33, 163. doi:10.1016/j.nmd.2023.07.393

Le Goff, L., Seferian, A., Phelep, A., Rippert, P., Mathieu, M.-L., Cances, C., de Lattre, C., Durigneux, J., Gousse, G., Vincent-Genod, D., Ribault, S., Gómez García de la Banda, M., Quijano-Roy, S., Sarret, C., Servais, L., & Vuillerot, C. (2022). Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen. Neurological Sciences. doi:10.1007/s10072-022-06522-w

Schrouff, I., Bethlen, S., Servais, L., & Thirion, T. (09 November 2022). Les nouveaux traitements dans l'amyotrophie spinale: faut-il revoies indications chirurgicales de hanche? [Paper presentation]. 96e congrès de la SOFCOT, Paris, France.

Labasse, C., Brochier, G., Taratuto, A.-L., Cadot, B., Rendu, J., Monges, S., Biancalana, V., Quijano-Roy, S., Bui, M. T., Chanut, A., Madelaine, A., Lacène, E., Beuvin, M., Amthor, H., Servais, L., de Feraudy, Y., Erro, M., Saccoliti, M., Neto, O. A., ... Romero, N. B. (July 2022). Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 10 (1), 101. doi:10.1186/s40478-022-01400-0

Monseur, A., Carlin, B. P., Boulanger, B., Seferian, A., Servais, L., Freitag, C., Thielemans, L., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D’Amico, A., Dowling, J. J., Darras, B. T., Daron, A., Hernandez, A., de Lattre, C., Arnal, J.-M., ... the NatHis-MTM Study Group. (July 2022). Leveraging Natural History Data in One- and Two-Arm Hierarchical Bayesian Studies of Rare Disease Progression. Statistics in Biosciences, 14 (2), 237 - 258. doi:10.1007/s12561-021-09323-5

Zaharieva, I. T., Scoto, M., Aragon-Gawinska, K., Ridout, D., Doreste, B., Servais, L., Muntoni, F., & Zhou, H. (July 2022). Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of Clinical and Translational Neurology, 9 (7), 1011-1026. doi:10.1002/acn3.51579

Dangouloff, T., Hiligsmann, M., Deconinck, N., D'Amico, A., Seferian, A. M., Boemer, F., & Servais, L. (2022). Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Developmental Medicine and Child Neurology. doi:10.1111/dmcn.15286

SCHROUFF, I., BETHLEN, S., Servais, L., THIRION, T., & GEORIS, P. (Other coll.). (23 March 2022). Les nouveaux traitements dans l’amyotrophie spinale : faut-il revoir les indications chirurgicales des luxations de hanche ? [Paper presentation]. SOFOP, Lille, France.

Servais, L., Mercuri, E., Straub, V., Guglieri, M., Seferian, A. M., Scoto, M., Leone, D., Koenig, E., Khan, N., Dugar, A., Wang, X., Han, B., Wang, D., & Muntoni, F. (February 2022). Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic Acid Therapeutics, 32 (1), 29-39. doi:10.1089/nat.2021.0043

Stimpson, G., Raquq, S., Chesshyre, M., Fewtrell, M., Ridout, D., Sarkozy, A., Manzur, A., Ayyar Gupta, V., De Amicis, R., Muntoni, F., Baranello, G., NorthStar Network, & Servais, L. (24 January 2022). Growth pattern trajectories in boys with Duchenne muscular dystrophy. Orphanet Journal of Rare Diseases, 17 (1), 20. doi:10.1186/s13023-021-02158-9

Annoussamy, M., Eggenspieler, D., Seferian, A., Mercuri, E., Straub, V., Muntoni, F., Scoto, M., Poleur, M., Daron, A., Butoianu, N., Mirea, A., Goemans, N., Previtali, S., Tulinius, M., Nascimento, A., Heydemann, P., Panzara, M., Singh, T., Strijbos, P., & Servais, L. (2022). Application for primary endpoint qualification of the 95th centile of stride velocity (SV95C) in Duchenne muscular dystrophy. Neuromuscular Disorders. doi:10.1016/j.nmd.2022.07.099

Dowling, J. J., Müller-Felber, W., Smith, B. K., Bönnemann, C. G., Kuntz, N. L., Muntoni, F., Servais, L., Alfano, L. N., Beggs, A. H., Bilder, D. A., Blaschek, A., Duong, T., Graham, R. J., Jain, M., Lawlor, M. W., Lee, J., Coats, J., Lilien, C., Lowes, L. P., ... INCEPTUS investigators. (2022). INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. Journal of Neuromuscular Diseases, 9 (4), 503-516. doi:10.3233/JND-210781

Hustinx, M., Poleur, M., Daron, A., Maertens De Noordhout, A., Servais, L., & Delstanche, S. (2022). Overlap Between Hereditary Sensory- Motor Neuropathy (HSMN) and Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP). Journal of Neuromuscular Diseases.

Poleur, M., Annoussamy, M., Clavel, L., Buscemi, L., DELSTANCHE, S., Eggenspieler, D., Maertens De Noordhout, A., Bouquiaux, O., Lievens, I., & Servais, L. (2022). Wearable inertial sensors for longitudinal follow-up of patients with amyotrophic lateral sclerosis. Nervno-Myšečnye Bolezni.

Markati, T., De Waele, L., Schara-Schmidt, U., & Servais, L. (November 2021). Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy. Frontiers in Pharmacology, 12, 735912. doi:10.3389/fphar.2021.735912

Lilien, C., Reyngoudt, H., Seferian, A. M., Gidaro, T., Annoussamy, M., Chê, V., Decostre, V., Ledoux, I., Le Louër, J., Guemas, E., Muntoni, F., Hogrel, J.-Y., Carlier, P. G., & Servais, L. (October 2021). Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy. Annals of Clinical and Translational Neurology, 8 (10), 1938-1950. doi:10.1002/acn3.51417

Poleur, M., Annoussamy, M., Eggenspieler, D., DELSTANCHE, S., DARON, A., & Servais, L. (October 2021). Longitudinal follow-up of adult patients with spinal muscular atrophy undergoing nusinersen treatment using an innovative magneto-inertial device. Neuromuscular Disorders, 31, 130. doi:10.1016/j.nmd.2021.07.290

Poleur, M., Ulinici, A., DARON, A., Schneider, O., Farra, F. D., Demonceau, M., Annoussamy, M., Vissière, D., Eggenspieler, D., & Servais, L. (October 2021). Actimyo®: Normative data in a non-controlled environment. Neuromuscular Disorders, 31, 86-S87. doi:10.1016/j.nmd.2021.07.149

Servais, L., Camino, E., Clement, A., McDonald, C. M., Lukawy, J., Lowes, L. P., Eggenspieler, D., Cerreta, F., & Strijbos, P. (August 2021). First Regulatory Qualification of a Novel Digital Endpoint in Duchenne Muscular Dystrophy: A Multi-Stakeholder Perspective on the Impact for Patients and for Drug Development in Neuromuscular Diseases. Digital Biomarkers, 5 (2), 183-190. doi:10.1159/000517411

Poleur, M., Ulinici, A., DARON, A., Schneider, O., Dal Farra, F., Demonceau, M., Annoussamy, M., Vissière, D., Eggenspieler, D., & Servais, L. (2021). Normative data on spontaneous stride velocity, stride length, and walking activity in a non-controlled environment. Orphanet Journal of Rare Diseases. doi:10.1186/s13023-021-01956-5

Amor, F., Vu Hong, A., Corre, G., Sanson, M., Suel, L., Blaie, S., Servais, L., Voit, T., Richard, I., & Israeli, D. (June 2021). Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle, 12 (3), 677-693. doi:10.1002/jcsm.12708

Coratti, G., Pane, M., Brogna, C., Ricotti, V., Messina, S., D'Amico, A., Bruno, C., Vita, G., Berardinelli, A., Mazzone, E., Magri, F., Ricci, F., Mongini, T., Battini, R., Bello, L., Pegoraro, E., Baranello, G., Previtali, S. C., Politano, L., ... Mercuri, E. (June 2021). North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up. PLoS ONE, 16 (6), 0253882. doi:10.1371/journal.pone.0253882

Servais, L., Baranello, G., Scoto, M., DARON, A., & Oskoui, M. (May 2021). Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities. Expert Opinion on Investigational Drugs, 30 (5), 519-527. doi:10.1080/13543784.2021.1904889

Lopez Granados, L., BOEMER, F., Pereira, T., Servais, L., & Morales, I. (April 2021). Cribado neonatal de la atrofia muscular espinal: el momento es ahora. Pediatria de Atencion Primaria, 23.

BECKERS, P., CABERG, J.-H., DIDEBERG, V., Dangouloff, T., den Dunnen, J. T., BOURS, V., Servais, L., & BOEMER, F. (04 February 2021). Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon‑skipping therapy. Scientific Reports, 11, 3011. doi:10.1038/s41598-021-82725-z

Annoussamy, M., Seferian, A. M., DARON, A., Péréon, Y., Cances, C., Vuillerot, C., De Waele, L., Laugel, V., Schara, U., Gidaro, T., Lilien, C., Hogrel, J.-Y., Carlier, P., Fournier, E., Lowes, L., Gorni, K., Ly-Le Moal, M., Hellbach, N., Seabrook, T., ... Servais, L. (February 2021). Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Annals of Clinical and Translational Neurology, 8 (2), 359-373. doi:10.1002/acn3.51281

BOEMER, F., Caberg, J.-H., Beckers, P., Dideberg, V., di Fiore, S., Bours, V., Marie, S., Dewulf, J., Marcelis, L., Deconinck, N., Daron, A., Blasco-Perez, L., Tizzano, E., Hiligsmann, M., Lombet, J., Pereira, T., Lopez-Granados, L., Shalchian-Tehran, S., van Assche, V., ... Servais, L. (2021). Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Scientific Reports, 11 (1), 19922. doi:10.1038/s41598-021-99496-2

Dangouloff, T., Boemer, F., & Servais, L. (2021). Newborn screening of neuromuscular diseases. Neuromuscular Disorders. doi:10.1016/j.nmd.2021.07.008

Dangouloff, T., Botty, C., Beaudart, C., Servais, L., & Hiligsmann, M. (January 2021). Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. Orphanet Journal of Rare Diseases, 16 (1), 47. doi:10.1186/s13023-021-01695-7

Fouarge, E., Monseur, A., Boulanger, B., Annoussamy, M., Seferian, A. M., De Lucia, S., Lilien, C., Thielemans, L., Paradis, K., Cowling, B. S., Freitag, C., Carlin, B. P., & Servais, L. (January 2021). Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. Orphanet Journal of Rare Diseases, 16 (1), 3. doi:10.1186/s13023-020-01663-7

Scaglioni, D., Catapano, F., Ellis, M., Torelli, S., Chambers, D., Feng, L., Beck, M., Sewry, C., Monforte, M., Harriman, S., Koenig, E., Malhotra, J., Popplewell, L., Guglieri, M., Straub, V., Mercuri, E., Servais, L., Phadke, R., Morgan, J., & Muntoni, F. (January 2021). The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy. Acta Neuropathologica Communications, 9 (1), 7. doi:10.1186/s40478-020-01106-1

Dangouloff, T., Servais, L., & Hiligsmann, M. (2020). SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.191 Preliminary data for the cost-effectiveness assessment of the newborn screening for SMA in Belgium. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.08.193

Dangouloff, T., Servais, L., & Hiligsmann, M. (2020). SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.187 Systematic literature review of the economic burden and economic evaluations in spinal muscular atrophy. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.08.189

Veerapandiyan, A., Connolly, A. M., Finkel, R. S., Arya, K., Mathews, K. D., Smith, E. C., Castro, D., Butterfield, R. J., Parsons, J. A., Servais, L., Kuntz, N., Rao, V. K., Brandsema, J. F., Mercuri, E., Centro Clinico Nemo, P. G., & Ciafaloni, E. (July 2020). Spinal muscular atrophy care in the COVID-19 pandemic era. Muscle and Nerve, 62 (1), 46/49. doi:10.1002/mus.26903

Sanson, M., Vu Hong, A., Massourides, E., Bourg, N., Suel, L., Amor, F., Corre, G., Bénit, P., Barthélémy, I., Blot, S., Bigot, A., Pinset, C., Rustin, P., Servais, L., Voit, T., Richard, I., & Israeli, D. (04 June 2020). miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy. Scientific Reports, 10 (1), 9139. doi:10.1038/s41598-020-66016-7

Koch, C., Buono, S., Menuet, A., Robé, A., Djeddi, S., Kretz, C., Gomez-Oca, R., Depla, M., Monseur, A., Thielemans, L., Servais, L., Laporte, J., & Cowling, B. S. (04 May 2020). Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients. Molecular Therapy: Methods and Clinical Development, 17, 1178-1189. doi:10.1016/j.omtm.2020.04.022

Dangouloff, T., Burghes, A., Bertini, E., BOEMER, F., Hiligsmann, M., Mueller-Felber, W., Tiziano, F. D., Young, P., Germanenko, O., De Lemus, M., Ouillade, L., Rucinski, K., Stephenson, K., Farwell, W., Gorni, K., Hjort, M., Kausar, I., Tizzano, E. F., & Servais, L. (January 2020). 244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands. Neuromuscular Disorders, 30 (1), 93-103. doi:10.1016/j.nmd.2019.11.002

BOEMER, F., CABERG, J.-H., DIDEBERG, V., BECKERS, P., Marie, S., Marcelis, L., Bours, V., Dangouloff, T., & Servais, L. (September 2019). (S)un (M)ay (A)rise on SMA : l'espoir d'une region sans amyotrophie spinale. Revue Médicale de Liège, 74 (9), 461-464.

BARREA, C., DEPIERREUX, F., & Servais, L. (2019). Odalisque's Position as a Geste Antagoniste in a Variant Phenotype of Ataxia‐Telangiectasia. Movement Disorders Clinical Practice. doi:10.1002/mdc3.12771

Daron, A., DELSTANCHE, S., Dangouloff, T., & Servais, L. (February 2019). Amyotrophie spinale infantile (R)évolution thérapeutique. Revue Médicale de Liège, 74 (2), 82-85.

Dangouloff, T., BOEMER, F., CABERG, J.-H., DIFIORE, S., BECKERS, P., MARIE, S., MARCELIS, L., & Servais, L. (2019). Reducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience. Neuromuscular Disorders, 29, 132. doi:10.1016/j.nmd.2019.06.339

Dangouloff, T., & Servais, L. (2019). Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives. Therapeutics and Clinical Risk Management, 15, 1153-1161. doi:10.2147/TCRM.S172291

JACQUINET, A., Bonnard, A., Capri, Y., Martin, D., Sadzot, B., Bianchi, E., Servais, L., SACRE, J.-P., Cave, H., & Verloes, A. (January 2019). Oligo-astrocytoma in LZTR1-related Noonan syndrome. European Journal of Medical Genetics, 63 (1), 103617. doi:10.1016/j.ejmg.2019.01.007

Chabanon, A., Seferian, A. M., DARON, A., Pereon, Y., Cances, C., Vuillerot, C., De Waele, L., Cuisset, J.-M., Laugel, V., Schara, U., Gidaro, T., Gilabert, S., Hogrel, J.-Y., Baudin, P.-Y., Carlier, P., Fournier, E., Lowes, L. P., Hellbach, N., Seabrook, T., ... Servais, L. (July 2018). Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS ONE, 13 (7), 0201004. doi:10.1371/journal.pone.0201004

Boussaid, G., Vuillerot, C., Pisco Domingos, J., Dany, A., Ricci, E., Servais, L., & Constant Boyer, F. (2018). Criteres de jugement pour les essais cliniques dans les maladies neuromusculaires. MS. Medecine Sciences, 34 Hors serie n degrees 2, 49-50. doi:10.1051/medsci/201834s216

Dangouloff, T., Hiligsmann, M., CABERG, J.-H., BOEMER, F., & Servais, L. (2018). Development of a decision-analytic model for the economic evaluation of newborn screening for spinal muscular atrophy. Neuromuscular Disorders, 28 (S29–S146), 59. doi:10.1016/j.nmd.2018.06.125

Domenger, C., Allais, M., Francois, V., Leger, A., Lecomte, E., Montus, M., Servais, L., Voit, T., Moullier, P., Audic, Y., & Le Guiner, C. (2018). RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect. Molecular Therapy: Nucleic Acids, 10, 277-291. doi:10.1016/j.omtn.2017.12.008

Mariot, V., Joubert, R., Hourde, C., Feasson, L., Hanna, M., Muntoni, F., Maisonobe, T., Servais, L., Bogni, C., Le Panse, R., Benvensite, O., Stojkovic, T., Machado, P. M., Voit, T., Buj-Bello, A., & Dumonceaux, J. (November 2017). Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches. Nature Communications, 8 (1), 1859. doi:10.1038/s41467-017-01486-4

Le Guiner, C., Servais, L., Montus, M., Larcher, T., Fraysse, B., Moullec, S., Allais, M., Francois, V., Dutilleul, M., Malerba, A., Koo, T., Thibaut, J.-L., Matot, B., Devaux, M., Le Duff, J., Deschamps, J.-Y., Barthelemy, I., Blot, S., Testault, I., ... Dickson, G. (July 2017). Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nature Communications, 8, 16105. doi:10.1038/ncomms16105

Sicot, G., Servais, L., Dinca, D. M., Leroy, A., Prigogine, C., Medja, F., Braz, S. O., Huguet-Lachon, A., Chhuon, C., Nicole, A., Gueriba, N., Oliveira, R., Dan, B., Furling, D., Swanson, M. S., Guerrera, I. C., Cheron, G., Gourdon, G., & Gomes-Pereira, M. (June 2017). Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy. Cell Reports, 19 (13), 2718-2729. doi:10.1016/j.celrep.2017.06.006

Bauche, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G., Beaufrere, A.-M., Pebrel-Richard, C., Thevenon, J., El Chehadeh-Djebbar, S., Faivre, L., Duffourd, Y., Ricci, F., ... Nicole, S. (2016). Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. American Journal of Human Genetics, 99 (3), 753-761. doi:10.1016/j.ajhg.2016.06.033

Seferian, A. M., Malfatti, E., Bosson, C., Pelletier, L., Taytard, J., Forin, V., Gidaro, T., Gargaun, E., Carlier, P., Faure, J., Romero, N. B., Rendu, J., & Servais, L. (2016). Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). Neuromuscular Disorders, 26 (10), 712-716. doi:10.1016/j.nmd.2016.07.011