![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Brande, L. V., 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Dangouloff, T., Thokala, P., Stevenson, M. D., Deconinck, N., D'Amico, A., Daron, A., DELSTANCHE, S., Servais, L., & Hiligsmann, M. (02 December 2023). 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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., 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Dangouloff, T., & Servais, L. (2022). Dépistage et traitement de l’amyotrophie spinale. Percentile. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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., 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Dangouloff, T., Boemer, F., & Servais, L. (2021). Newborn screening of neuromuscular diseases. Neuromuscular Disorders. doi:10.1016/j.nmd.2021.07.008 ![]() |
![]() ![]() | 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. |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
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. |
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. |
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. |
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. |
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. 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |