  | 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  Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Boemer, F., & Servais, L. (2025). Genomic Newborn Screening-A Long Road From Pilot to Public Policy. JAMA Pediatrics. doi:10.1001/jamapediatrics.2025.3639 Peer Reviewed verified by ORBi |
 | 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. Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi* 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. Editorial reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Tychon, C., Poleur, M., & Servais, L. (14 March 2025). Walking speed during daily living, a systematic review [Poster presentation]. BAoP Congress, Mons, Belgium. |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | González Barral, C., & Servais, L. (2025). Wearable sensors in paediatric neurology. Developmental Medicine and Child Neurology. doi:10.1111/dmcn.16239 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | De Waele, L., & Servais, L. (2024). Treatment strategies for patients with spinal muscular atrophy. Expert Review of Neurotherapeutics. doi:10.1080/14737175.2024.2439486 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer reviewed |
 | 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 Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
  | Dangouloff, T., Thokala, P., Stevenson, M. D., Deconinck, N., D'Amico, A., Daron, A., DELSTANCHE, S., Servais, L., & Hiligsmann, M. (02 January 2024). Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium. Neuromuscular Disorders, 34, 61-67. doi:10.1016/j.nmd.2023.11.013 Editorial reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | Tychon, C., BENMHAMMED, N., Daron, A., Deconinck, N., Dontaine, P., Boemer, F., Servais, L., & Dangouloff, T. (2024). Follow-up of SMA children identified by newborn screening in southern Belgium [Paper presentation]. 52nd Congress of the BVK-SBP, Anvers, Belgium. Editorial reviewed |
 | Mouraux, C., Dangouloff, T., Poleur, M., Mackels, L., Vanden Brande, L., Daron, A., Servais, L., Maertens de Noordhout, A., & DELSTANCHE, S. (2024). Epidemiological study and diagnostic approach analysis of Neuromuscular population of Neuromuscular Reference Center of Liege, Belgium [Poster presentation]. BeSHG annual symposium 2024, Belgium. Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Vincent-Genod, D., Rippert, P., Coton, J., Le Goff, L., Barriere, A., Berruyer, A., Bernard, M., Garde, C., Gutierrez-Garcia, M., Gilabert, S., Gomes-Lisboade-Souza, A., Daron, A., Servais, L., Thomann, G., & Vuillerot, C. (26 October 2023). Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect. Pediatric Physical Therapy, 35 (1), 36-41. doi:10.1097/PEP.0000000000000968 Peer Reviewed verified by ORBi |
 | 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. Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | De Siqueira Carvalho, A. A., Tychon, C., & Servais, L. (30 August 2023). Newborn screening for spinal muscular atrophy - what have we learned? Expert Review of Neurotherapeutics, 23 (11), 1005 - 1012. doi:10.1080/14737175.2023.2252179 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Dangouloff, T., MOURAUX, C., Piazzon, F., Mashhadizadeh, D., Hovhannesyan, K., Helou, L., Palmeira, L., Boemer, F., & Servais, L. (2023). Dépistage génétique néonatal universel de 126 maladies précoces et traitables : premiers résultats du projet Babydetect [Poster presentation]. 33e Séminaire de Génétique Clinique, Angers, France. Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
| 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. Peer reviewed |
 | Livingstone, A., Servais, L., & Wilkinson, D. J. C. (2022). The ethics of crowdfunding in paediatric neurology. Developmental Medicine and Child Neurology. doi:10.1111/dmcn.15442 Peer Reviewed verified by ORBi |
 | 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., Gomez Garcia de la Banda, M., Quijano-Roy, S., Sarret, C., Servais, L., & Vuillerot, C. (2022). Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen. Neurological Sciences. doi:10.1007/s10072-022-06403-2 Peer Reviewed verified by ORBi |
 | Bendor-Samuel, O. M., Wishlade, T., Willis, L., Aley, P., Choi, E., Craik, R., Mujadidi, Y., Mounce, G., Roseman, F., De La Horra Gozalo, A., Bland, J., Taj, N., Smith, I., Ziegler, A.-G., Bonifacio, E., Winkler, C., Haupt, F., Todd, J. A., Servais, L., ... GPPAD Study Group. (2022). Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine eligibility for clinical trials. Archives of Disease in Childhood, 2022-324270. doi:10.1136/archdischild-2022-324270 Peer Reviewed verified by ORBi |
 | Horton, R. H., Saade, D., Markati, T., Harriss, E., Bönnemann, C. G., Muntoni, F., & Servais, L. (2022). A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment. Journal of Neurology, Neurosurgery and Psychiatry, 2022-329431. doi:10.1136/jnnp-2022-329431 Peer Reviewed verified by ORBi |
 | Markati, T., Oskoui, M., Farrar, M. A., Duong, T., Goemans, N., & Servais, L. (September 2022). Emerging therapies for Duchenne muscular dystrophy. The Lancet Neurology, 21 (9), 814 - 829. doi:10.1016/S1474-4422(22)00125-9 Peer Reviewed verified by ORBi |
 | Mercuri, E., Baranello, G., Boespflug-Tanguy, O., De Waele, L., Goemans, N., Kirschner, J., Masson, R., Mazzone, E. S., Pechmann, A., Pera, M. C., Vuillerot, C., Bader-Weder, S., Gerber, M., Gorni, K., Hoffart, J., Kletzl, H., Martin, C., McIver, T., Scalco, R. S., ... SUNFISH Working Group. (2022). Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment. European Journal of Neurology. doi:10.1111/ene.15499 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Tauscher-Wisniewski, S., McGill, B. E., & Macek, T. A. (July 2022). Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature Medicine, 28 (7), 1381-1389. doi:10.1038/s41591-022-01866-4 Peer Reviewed verified by ORBi |
 | Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Wigderson, M., Tauscher-Wisniewski, S., ... Macek, T. A. (July 2022). Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine, 28 (7), 1390-1397. doi:10.1038/s41591-022-01867-3 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | McMillan, H. J., Proud, C. M., Farrar, M. A., Alexander, I. E., Muntoni, F., & Servais, L. (2022). Onasemnogene abeparvovec for the treatment of spinal muscular atrophy. Expert Opinion on Biological Therapy. doi:10.1080/14712598.2022.2066471 Peer Reviewed verified by ORBi |
 | Markati, T., Fisher, G., Ramdas, S., & Servais, L. (2022). Risdiplam: an investigational survival motor neuron 2 (SMN2) splicing modifier for spinal muscular atrophy (SMA). Expert Opinion on Investigational Drugs, 1-11. doi:10.1080/13543784.2022.2056836 Peer Reviewed verified by ORBi |
 | Ruaud, L., Drunat, S., Elmaleh-Bergès, M., Ernault, A., Guilmin Crepon, S., MCPH Consortium, El Ghouzzi, V., Auvin, S., Verloes, A., Passemard, S., Servais, L., & VAESSEN, S. (April 2022). Neurological outcome in WDR62 primary microcephaly. Developmental Medicine and Child Neurology, 64 (4), 509-517. doi:10.1111/dmcn.15060 Peer Reviewed verified by ORBi |
 | Mercuri, E., Deconinck, N., Mazzone, E. S., Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, G., Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., ... Daron, A. (April 2022). Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet Neurology, 21 (1), 42-52. doi:10.1016/S1474-4422(21)00367-7 Peer Reviewed verified by ORBi |
| 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. Peer reviewed |
 | Menard, J., Seferian, A. M., Fleurence, E., Barzic, A., Binoche, A., Labouret, G., Coutier, L., Vuillerot, C., Bieleu, B. M., Gomez Garcia de la Banda, M., Corvol, H., Servais, L., & Taytard, J. (2022). Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen. Pediatric Pulmonology. doi:10.1002/ppul.25899 Peer Reviewed verified by ORBi |
 | Muntoni, F., Signorovitch, J., Sajeev, G., Goemans, N., Wong, B., Tian, C., Mercuri, E., Done, N., Wong, H., Moss, J., Yao, Z., Ward, S. J., Manzur, A., Servais, L., Niks, E. H., Straub, V., de Groot, I. J., McDonald, C., & North Star Clinical Network, P.-D.-S. T. A. F. C. L. M. A. T. D. I. G. A. T. C. T. A. P. C. (25 February 2022). Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls. Neuromuscular Disorders, 32 (4), 271-283. doi:10.1016/j.nmd.2022.02.009 Peer Reviewed verified by ORBi |
 | Dangouloff, T., & Servais, L. (2022). Dépistage et traitement de l’amyotrophie spinale. Percentile. Editorial reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Tizzano, E. F., Christie-Brown, V., Baranello, G., Germanenko, O., Gray, A., Krstic, M., Lilien, C., Patel, H., Servais, L., & Scoto, M. (2022). Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative. Journal of Neuromuscular Diseases, 9 (6), 809 - 820. doi:10.3233/JND-221538 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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. Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Trucco, F., Ridout, D., Domingos, J., Maresh, K., Chesshyre, M., Munot, P., Sarkozy, A., Robb, S., Quinlivan, R., Riley, M., Wallis, C., Chan, E., Abel, F., De Lucia, S., Hogrel, J.-Y., Niks, E. H., de Groot, I., Servais, L., Straub, V., ... Muntoni, F. (January 2022). Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study. Muscle and Nerve, 65 (1), 67-74. doi:10.1002/mus.27427 Peer Reviewed verified by ORBi |
| 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. Peer Reviewed verified by ORBi |
 | Gidaro, T., Gasnier, E., Annoussamy, M., Vissing, J., Attarian, S., Mozaffar, T., Iyadurai, S., Wagner, K. R., Vissière, D., Walker, G., Shukla, S. S., & Servais, L. (2022). Home-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy. Muscle and Nerve, 65 (2), 237-242. doi:10.1002/mus.27446 Peer Reviewed verified by ORBi |
 | Servais, L., Yen, K., Guridi, M., Lukawy, J., Vissière, D., & Strijbos, P. (2022). Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials. Journal of Neuromuscular Diseases, 9 (2), 335-346. doi:10.3233/JND-210743 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Darras, B. T., Masson, R., Mazurkiewicz-Bełdzińska, M., Rose, K., Xiong, H., Zanoteli, E., Baranello, G., Bruno, C., Vlodavets, D., Wang, Y., El-Khairi, M., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Fontoura, P., & Servais, L. (July 2021). Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. The New England journal of medicine, 385 (5), 427-435. doi:10.1056/NEJMoa2102047 Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | Markati, T., Duis, J., & Servais, L. (July 2021). Therapies in preclinical and clinical development for Angelman syndrome. Expert Opinion on Investigational Drugs, 30 (7), 709-720. doi:10.1080/13543784.2021.1939674 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Reyngoudt, H., Marty, B., Boisserie, J.-M., Le Louër, J., Koumako, C., Baudin, P.-Y., Wong, B., Stojkovic, T., Béhin, A., Gidaro, T., Allenbach, Y., Benveniste, O., Servais, L., & Carlier, P. G. (June 2021). Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases. European Radiology, 31 (6), 4264-4276. doi:10.1007/s00330-020-07487-0 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
| 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 Peer Reviewed verified by ORBi |
 | 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. Peer Reviewed verified by ORBi |
 | Baranello, G., Darras, B. T., Day, J. W., Deconinck, N., Klein, A., Masson, R., Mercuri, E., Rose, K., El-Khairi, M., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Seabrook, T., Fontoura, P., & Servais, L. (March 2021). Risdiplam in Type 1 Spinal Muscular Atrophy. The New England journal of medicine, 384 (10), 915-923. doi:10.1056/NEJMoa2009965 Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 |
 | de Feraudy, Y., Ben Yaou, R., Wahbi, K., Stalens, C., Stantzou, A., Laugel, V., Desguerre, I., Servais, L., Leturcq, F., & Amthor, H. (February 2021). Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy. Annals of Neurology, 89 (2), 280-292. doi:10.1002/ana.25951 Peer Reviewed verified by ORBi |
 | Gangfuss, A., Schmitt, D., Roos, A., Braun, F., Annoussamy, M., Servais, L., & Schara-Schmidt, U. (2021). Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience. Journal of Neuromuscular Diseases, 8 (1), 79-90. doi:10.3233/JND-200539 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Walter, M. C., Chiriboga, C., Duong, T., Goemans, N., Mayhew, A., Ouillade, L., Oskoui, M., Quinlivan, R., Vázquez-Costa, J. F., Vissing, J., & Servais, L. (2021). Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era. Journal of Neuromuscular Diseases, 8 (4), 543-551. doi:10.3233/JND-200611 Peer Reviewed verified by ORBi |
| BECKERS, P., CABERG, J.-H., DIDEBERG, V., Dangouloff, T., den Dunnen, J. T., BOURS, V., Servais, L., & BOEMER, F. (2021). Newborn Screening of Duchenne Muscular Dystrophy Specifically Targeting Deletions Amenable to Exon-skipping Therapy [Poster presentation]. European Human Genetics Conference - ESHG. |
 | Mercuri, E., Muntoni, F., Baranello, G., Masson, R., Boespflug-Tanguy, O., Bruno, C., Corti, S., DARON, A., Deconinck, N., Servais, L., Straub, V., Ouyang, H., Chand, D., Tauscher-Wisniewski, S., Mendonca, N., & Lavrov, A. (2021). Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial. The Lancet Neurology, 20 (10), 832-841. doi:10.1016/S1474-4422(21)00251-9 Peer Reviewed verified by ORBi |
 | Livingstone, A., Servais, L., & Wilkinson, D. J. C. (2021). Crowdfunding for neuromuscular disease treatment: the ethical implications. The Lancet Neurology, 20 (10), 788-789. doi:10.1016/S1474-4422(21)00266-0 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Dangouloff, T., Boemer, F., & Servais, L. (2021). Newborn screening of neuromuscular diseases. Neuromuscular Disorders. doi:10.1016/j.nmd.2021.07.008 Peer Reviewed verified by ORBi |
 | Dangouloff, T., Vrščaj, E., Servais, L., & Osredkar, D. (2021). Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go. Neuromuscular Disorders, 31 (6), 574 - 582. doi:10.1016/j.nmd.2021.03.007 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Baranello, G., Gorni, K., Daigl, M., Kotzeva, A., Evans, R., Hawkins, N., Scott, D. A., Mahajan, A., Muntoni, F., & Servais, L. (2021). Prognostic Factors and Treatment-Effect Modifiers in Spinal Muscular Atrophy. Clinical Pharmacology and Therapeutics, 110 (6), 1435-1454. doi:10.1002/cpt.2247 Peer Reviewed verified by ORBi |
 | Duong, T., Harding, G., Mannix, S., Abel, C., Phillips, D., Alfano, L. N., Bönnemann, C. G., Lilien, C., Lowes, L. P., Servais, L., Warken-Madelung, B., Nieto Bergman, S., James, E. S., Noursalehi, M., Prasad, S., Rico, S., & Bilder, D. A. (2021). Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance. Journal of Neuromuscular Diseases, 8 (1), 63-77. doi:10.3233/JND-200479 Peer Reviewed verified by ORBi |
 | Pini, J., Siciliano, G., Lahaut, P., Braun, S., Segovia-Kueny, S., Kole, A., Hérnando, I., Selb, J., Schirinzi, E., Duong, T., Hogrel, J.-Y., Olmedo, J. J. S., Vissing, J., Servais, L., Vincent-Genod, D., Vuillerot, C., Bannwarth, S., Eggenspieler, D., Vicart, S., ... Sacconi, S. (2021). E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019. Journal of Neuromuscular Diseases, 8 (4), 743-754. doi:10.3233/JND-210655 Peer Reviewed verified by ORBi |
 | Catapano, F., Scaglioni, D., Maresh, K., Ala, P., Domingos, J., Selby, V., Ricotti, V., Phillips, L., Servais, L., Seferian, A., Groot, I. D., Krom, Y. D., Voit, T., Verschuuren, J. J. G. M., Niks, E. H., Straub, V., Morgan, J., & Muntoni, F. (November 2020). Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy. Epigenomics, 12 (21), 1899-1915. doi:10.2217/epi-2020-0052 Peer Reviewed verified by ORBi |
 | Neuhaus, S. B., Wallgren-Pettersson, C., Bönnemann, C. G., Schara, U., & Servais, L. (October 2020). 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. Neuromuscular disorders : NMD, 30 (10), 866-875. doi:10.1016/j.nmd.2020.08.356 Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Kirschner, J., Butoianu, N., Goemans, N., Haberlova, J., Kostera-Pruszczyk, A., Mercuri, E., van der Pol, W. L., Quijano-Roy, S., Sejersen, T., Tizzano, E. F., Ziegler, A., Servais, L., & Muntoni, F. (September 2020). European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 28, 38-43. doi:10.1016/j.ejpn.2020.07.001 Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | Hogrel, J.-Y., Decostre, V., Ledoux, I., de Antonio, M., Niks, E. H., de Groot, I., Straub, V., Muntoni, F., Ricotti, V., Voit, T., Seferian, A., Gidaro, T., & Servais, L. (July 2020). Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy. Journal of Neurology, 267 (7), 2022-2028. doi:10.1007/s00415-020-09800-9 |
 | Reyngoudt, H., Marty, B., Caldas de Almeida Araújo, E., Baudin, P.-Y., Le Louër, J., Boisserie, J.-M., Béhin, A., Servais, L., Gidaro, T., & Carlier, P. G. (July 2020). Relationship between markers of disease activity and progression in skeletal muscle of GNE myopathy patients using quantitative nuclear magnetic resonance imaging and (31)P nuclear magnetic resonance spectroscopy. Quantitative Imaging in Medicine and Surgery, 10 (7), 1450-1464. doi:10.21037/qims-20-39 |
 | Dangouloff, T., BOEMER, F., CABERG, J.-H., & Servais, L. (2020). Correspondence on: “Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?” by Kay et al. Genetics in Medicine. doi:10.1038/s41436-020-0887-1 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Frank, D. E., Schnell, F. J., Akana, C., El-Husayni, S. H., Desjardins, C. A., Morgan, J., Charleston, J. S., Sardone, V., Domingos, J., Dickson, G., Straub, V., Guglieri, M., Mercuri, E., Servais, L., & Muntoni, F. (26 May 2020). Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurology, 94 (21), 2270-e2282. doi:10.1212/WNL.0000000000009233 Peer Reviewed verified by ORBi |
 | 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 |
 | Servais, L., Kirschner, J., & Muntoni, F. (April 2020). Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy. Neuromuscular disorders : NMD, 30 (4), 267-269. doi:10.1016/j.nmd.2020.03.006 |
 | Aragon-Gawinska, K., DARON, A., Ulinici, A., Vanden Brande, L., Seferian, A., Gidaro, T., Scoto, M., Deconinck, N., & Servais, L. (March 2020). Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen. Developmental Medicine and Child Neurology, 62 (3), 310-314. doi:10.1111/dmcn.14412 Peer Reviewed verified by ORBi |
 | Servais, L. (March 2020). Video games to measure outcome for children with neuromuscular disorders. Developmental Medicine and Child Neurology, 62 (3), 266. doi:10.1111/dmcn.14231 Peer Reviewed verified by ORBi |
 | Ramdas, S., & Servais, L. (February 2020). New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opinion on Pharmacotherapy, 21 (3), 307-315. doi:10.1080/14656566.2019.1704732 Peer Reviewed verified by ORBi |
 | Finkel, R. S., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., Shieh, P. B., Tizzano, E., Desguerre, I., Quijano-Roy, S., Saito, K., Droege, M., Dabbous, O., Khan, F., Renault, L., Anderson, F. A., & Servais, L. (2020). RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. Journal of Neuromuscular Diseases, 7 (2), 145-152. doi:10.3233/JND-190451 |
 | Dangouloff, T., BOEMER, F., DIDEBERG, V., CABERG, J.-H., & Servais, L. (2020). Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA [letter to the editor]. Neurology. doi:10.1212/WNL.0000000000009907 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Villar-Quiles, R. N., Catervi, F., Cabet, E., Juntas-Morales, R., Genetti, C. A., Gidaro, T., Koparir, A., Yuksel, A., Coppens, S., Deconinck, N., Pierce-Hoffman, E., Lornage, X., Durigneux, J., Laporte, J., Rendu, J., Romero, N. B., Beggs, A. H., Servais, L., Cossee, M., ... Ferreiro, A. (January 2020). ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Annals of Neurology, 87 (2), 217-232. doi:10.1002/ana.25660 Peer Reviewed verified by ORBi |
 | Gidaro, T., Reyngoudt, H., Le Louer, J., Behin, A., Toumi, F., Villeret, M., Araujo, E. C. A., Baudin, P.-Y., Marty, B., Annoussamy, M., Hogrel, J.-Y., Carlier, P. G., & Servais, L. (January 2020). Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy. Journal of Neurology, 267 (1), 228-238. doi:10.1007/s00415-019-09569-6 Peer Reviewed verified by ORBi |
 | Servais, L., Straathof, C. S. M., Schara, U., Klein, A., Leinonen, M., Hasham, S., Meier, T., De Waele, L., Gordish-Dressman, H., McDonald, C. M., Mayer, O. H., Voit, T., Mercuri, E., & Buyse, G. M. (2019). Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy. Neuromuscular disorders : NMD. doi:10.1016/j.nmd.2019.10.008 Peer reviewed |
 | Conrado, D. J., Larkindale, J., Berg, A., Hill, M., Burton, J., Abrams, K. R., Abresch, R. T., Bronson, A., Chapman, D., Crowther, M., Duong, T., Gordish-Dressman, H., Harnisch, L., Henricson, E., Kim, S., McDonald, C. M., Schmidt, S., Vong, C., Wang, X., ... Servais, L. (October 2019). Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy. Journal of Pharmacokinetics and Pharmacodynamics, 46 (5), 441-455. doi:10.1007/s10928-019-09642-7 Peer Reviewed verified by ORBi |
 | 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. Peer reviewed |
 | Lilien, C., Gasnier, E., Gidaro, T., Seferian, A., Grelet, M., Vissiere, D., & Servais, L. (2019). Home-Based Monitor for Gait and Activity Analysis. Journal of Visualized Experiments, (150). doi:10.3791/59668 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Che, V., Schara, U., Gangfuss, A., D'Amico, A., Dowling, J. J., Darras, B. T., Daron, A., Hernandez, A., de Lattre, C., Arnal, J.-M., Mayer, M., Cuisset, J.-M., Vuillerot, C., Fontaine, S., Bellance, R., ... Servais, L. (16 April 2019). X-linked myotubular myopathy: A prospective international natural history study. Neurology, 92 (16), 1852-e1867. doi:10.1212/WNL.0000000000007319 Peer Reviewed verified by ORBi |
 | Ricotti, V., Selby, V., Ridout, D. A., Domingos, J. P., Decostre, V., Mayhew, A. G., Eagle, M., Butler, J. W., Guglieri, M., Van der Holst, M., Jansen, M., Verschuuren, J. J. G. M., de Groot, I. J. M., Niks, E. H., Servais, L., Straub, V. W., Voit, T., Hogrel, J.-Y., & Muntoni, F. M. (April 2019). Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. Neuromuscular disorders : NMD, 29 (4), 261-268. doi:10.1016/j.nmd.2019.02.002 Peer reviewed |
 | Daron, A., DELSTANCHE, S., Dangouloff, T., & Servais, L. (February 2019). Amyotrophie spinale infantile (R)évolution thérapeutique. Revue Médicale de Liège, 74 (2), 82-85. |
 | Boemer, F., CABERG, J.-H., Dideberg, V., DARDENNE, D., Bours, V., Hiligsmann, M., Dangouloff, T., & Servais, L. (2019). Newborn screening for SMA in Southern Belgium. Neuromuscular Disorders. doi:10.1016/j.nmd.2019.02.003 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Servais, L. (2019). "The Times They Are a-Changin'." In reply to El-Zaidy et al.: AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort. Journal of Neuromuscular Diseases, 6 (3), 319-320. doi:10.3233/JND-199001 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Gidaro, T., & Servais, L. (January 2019). Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Developmental Medicine and Child Neurology, 61 (1), 19-24. doi:10.1111/dmcn.14027 Peer Reviewed verified by ORBi |
Annoussamy, M., Grangé, A., Lilien, C., Chê, V., Duchêne, D., Gidaro, T., Behin, A., Baets, J., D'Amico, A., DARON, A., Bitoun, M., Paradis, K., Thielemans, L., Van Rooijen, S., & Servais, L. (October 2018). Baseline characteristics of patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study [Poster presentation]. WMS Congress 2018, Mendoza, Argentina. |
Annoussamy, M., Lilien, C., Gidaro, T., Chê, V., Schara, U., D'Amico, A., Dowling, J., Darras, B., DARON, A., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., de Lattre, C., Bellance, R., Biancalana, V., Buj-Bello, A., Hogrel, J., Landy, H., ... NatHis-MTM Study Group. (October 2018). Clinical changes over time in a European and North-American cohort of patients with X-linked Myotubular Myopathy [Poster presentation]. WMS Congress 2018, Mendoza, Argentina. |
Chabanon, A., Annoussamy, M., DARON, A., Péréon, Y., Cances, C., Vuillerot, C., Goemans, N., Cuisset, J., Laugel, V., Schara, U., Gidaro, T., Seferian, A., Lowes, L., Carlier, P., Hogrel, J., Czech, C., Hermosilla, O., Kwaja, O., & Servais, L. (October 2018). Two years, longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy [Poster presentation]. WMS Congress 2018, Mendoza, Argentina. |
 | Aragon-Gawinska, K., Seferian, A. M., DARON, A., Gargaun, E., Vuillerot, C., Cances, C., Ropars, J., Chouchane, M., Cuppen, I., Hughes, I., Illingworth, M., Marini-Bettolo, C., Rambaud, J., Taytard, J., Annoussamy, M., Scoto, M., Gidaro, T., & Servais, L. (October 2018). Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study. Neurology, 91 (14), 1312-e1318. doi:10.1212/WNL.0000000000006281 Peer Reviewed verified by ORBi |
Hogrel, J., Annoussamy, M., Chabanon, A., DARON, A., Péréon, Y., Cances, C., Vuillerot, C., Goemans, N., Cuisset, J., Laugel, V., Schara, U., Gargaun, E., Gidaro, T., Seferian, A., Turk, S., Hermosilla, R., Fournier, E., Baudin, P., Carlier, P., & Servais, L. (October 2018). Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3 [Poster presentation]. WMS Congress, Mendoza, Argentina. |
Aragon-Gawinska, K., Seferian, A., Vanden Brande, L., DARON, A., Ulinici, Deconinck, N., Annoussamy, M., Vuillerot, C., Cances, C., Ropars, J., Chouchane, M., Balintova, Z., Modrzejewska, S., Cuppen, I., Hughes, I., Illingworth, M., Marini-Bettolo, C., White, K., Scoto, M., ... Servais, L. (October 2018). Treatment by nusinersen in spinal muscular atrophy type 1 patients older than 7 months, 14 months follow-up [Poster presentation]. WMS Congress 2018, Mendoza, Argentina. |
 | 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 Peer Reviewed verified by ORBi |
 | Rouillon, J., Lefebvre, T., Denard, J., Puy, V., Daher, R., Ausseil, J., Zocevic, A., Fogel, P., Peoc'h, K., Wong, B., Servais, L., Voit, T., Puy, H., Karim, Z., & Svinartchouk, F. (2018). High urinary ferritin reflects myoglobin iron evacuation in DMD patients. Neuromuscular Disorders, 1-8. doi:10.1016/j.nmd.2018.03.008 Peer Reviewed verified by ORBi |
 | van Vliet, J., Tieleman, A. A., van Engelen, B. G. M., Bassez, G., Servais, L., Behin, A., Stojkovic, T., Meulstee, J., Engel, J. A. M., Lamas, G., Eymard, B., Verhagen, W. I. M., & Mamelle, E. (February 2018). Hearing impairment in patients with myotonic dystrophy type 2. Neurology, 90 (7), 615-e622. doi:10.1212/WNL.0000000000004963 Peer Reviewed verified by ORBi |
 | Diaz-Manera, J., Fernandez-Torron, R., LLauger, J., James, M. K., Mayhew, A., Smith, F. E., Moore, U. R., Blamire, A. M., Carlier, P. G., Rufibach, L., Mittal, P., Eagle, M., Jacobs, M., Hodgson, T., Wallace, D., Ward, L., Smith, M., Stramare, R., Rampado, A., ... Servais, L. (2018). Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. Journal of Neurology, Neurosurgery and Psychiatry, 89 (10), 1071-1081. doi:10.1136/jnnp-2017-317488 Peer Reviewed verified by ORBi |
 | Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., ... Servais, L. (2018). Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. New England Journal of Medicine, 378 (7), 625-635. doi:10.1056/NEJMoa1710504 Peer Reviewed verified by ORBi |
 | Catapano, F., Domingos, J., Perry, M., Ricotti, V., Phillips, L., Servais, L., Seferian, A., Groot, I. D., Krom, Y. D., Niks, E. H., Verschuuren, J. J., Straub, V., Voit, T., Morgan, J., & Muntoni, F. (2018). Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. Epigenomics, 10 (7), 875-889. doi:10.2217/epi-2018-0022 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., Donkervoort, S., Taylor, J., Dixon, J., Poke, G., Foley, A. R., Holmes, C., Williams, G., ... Muntoni, F. (2018). STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human Mutation, 39 (12), 1980-1994. doi:10.1002/humu.23635 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Vandersmissen, I., Biancalana, V., Servais, L., Dowling, J. J., Vander Stichele, G., Van Rooijen, S., & Thielemans, L. (2018). An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. Neuromuscular Disorders, 28 (9), 766-777. doi:10.1016/j.nmd.2018.06.012 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Angeard, N., Huerta, E., Jacquette, A., Cohen, D., Xavier, J., Gargiulo, M., Servais, L., Eymard, B., & Heron, D. (2017). Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? Neuromuscular Disorders. doi:10.1016/j.nmd.2017.12.006 Peer Reviewed verified by ORBi |
 | Mary, P., Servais, L., & Vialle, R. (2017). Neuromuscular diseases: Diagnosis and management. Orthopaedics and Traumatology: Surgery and Research. doi:10.1016/j.otsr.2017.04.019 Peer Reviewed verified by ORBi |
 | Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, A. M., Bishop, K., Zhong, Z. J., Gheuens, S., Bennett, C. F., Schneider, E., ... De Vivo, D. C. (November 2017). Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. New England Journal of Medicine, 377 (18), 1723-1732. doi:10.1056/NEJMoa1702752 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Cardas, R., Iliescu, C., Butoianu, N., Seferian, A., Gataullina, S., Gargaun, E., Nectoux, J., Bienvenu, T., Craiu, D., Gidaro, T., & Servais, L. (October 2017). DMD and West syndrome. Neuromuscular Disorders, 27 (10), 911-913. doi:10.1016/j.nmd.2017.07.008 Peer Reviewed verified by ORBi |
 | Victor, R. G., Sweeney, H. L., Finkel, R., McDonald, C. M., Byrne, B., Eagle, M., Goemans, N., Vandenborne, K., Dubrovsky, A. L., Topaloglu, H., Miceli, M., Furlong, P., Landry, J., Elashoff, R., Cox, D., Tadalafil DMD Study Group, & Servais, L. (Other coll.). (October 2017). A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology, 89 (17), 1811-1820. doi:10.1212/WNL.0000000000004570 Peer Reviewed verified by ORBi |
 | Mamrut, S., Avidan, N., Truffault, F., Staun-Ram, E., Sharshar, T., Eymard, B., Frenkian, M., Pitha, J., de Baets, M., Servais, L., Berrih-Aknin, S., & Miller, A. (August 2017). Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins. Journal of Autoimmunity, 82, 62-73. doi:10.1016/j.jaut.2017.05.005 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | DELSTANCHE, S., Servais, L., & Gidaro, T. (March 2017). Improved Muscular Weakness During Asthma Exacerbation. JAMA Neurology, 74 (3), 353-354. doi:10.1001/jamaneurol.2016.4069 Peer Reviewed verified by ORBi |
 | Anghelescu, C., Francou, B., Cardas, R., Guiochon-Mantel, A., Aubourg, P., Servais, L., & Gidaro, T. (March 2017). Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype. European Journal of Neurology, 24 (3), 15-e16. doi:10.1111/ene.13250 Peer Reviewed verified by ORBi |
 | Klingels, K., Mayhew, A. G., Mazzone, E. S., Duong, T., Decostre, V., Werlauff, U., Vroom, E., Mercuri, E., Goemans, N. M., Upper Limb Clinical Outcome Group, & Servais, L. (Other coll.). (February 2017). Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM. Developmental Medicine and Child Neurology, 59 (2), 224-231. doi:10.1111/dmcn.13277 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
