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. |
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 |
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 |
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 |
Dangouloff, T., MOURAUX, C., Piazzon, F., Mashhadizadeh, D., Hovhannesyan, K., Helou, L., Gonon Rodrigues 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. |
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 |
Labasse, C., Brochier, G., Taratuto, A.-L., Cadot, B., Rendu, J., Monges, S., Biancalana, V., Quijano-Roy, S., Bui, M. T., Chanut, A., Madelaine, A., Lacène, E., Beuvin, M., Amthor, H., Servais, L., de Feraudy, Y., Erro, M., Saccoliti, M., Neto, O. A., ... Romero, N. B. (July 2022). Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 10 (1), 101. doi:10.1186/s40478-022-01400-0 |
Monseur, A., Carlin, B. P., Boulanger, B., Seferian, A., Servais, L., Freitag, C., Thielemans, L., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D’Amico, A., Dowling, J. J., Darras, B. T., Daron, A., Hernandez, A., de Lattre, C., Arnal, J.-M., ... the NatHis-MTM Study Group. (July 2022). Leveraging Natural History Data in One- and Two-Arm Hierarchical Bayesian Studies of Rare Disease Progression. Statistics in Biosciences, 14 (2), 237 - 258. doi:10.1007/s12561-021-09323-5 |
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 |
Zaharieva, I. T., Scoto, M., Aragon-Gawinska, K., Ridout, D., Doreste, B., Servais, L., Muntoni, F., & Zhou, H. (July 2022). Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of Clinical and Translational Neurology, 9 (7), 1011-1026. doi:10.1002/acn3.51579 |
Dangouloff, T., Hiligsmann, M., Deconinck, N., D'Amico, A., Seferian, A. M., Boemer, F., & Servais, L. (2022). Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Developmental Medicine and Child Neurology. doi:10.1111/dmcn.15286 |
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 |
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 |
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 |
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 |
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 |
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 |
Markati, T., De Waele, L., Schara-Schmidt, U., & Servais, L. (November 2021). Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy. Frontiers in Pharmacology, 12, 735912. doi:10.3389/fphar.2021.735912 |
Lilien, C., Reyngoudt, H., Seferian, A. M., Gidaro, T., Annoussamy, M., Chê, V., Decostre, V., Ledoux, I., Le Louër, J., Guemas, E., Muntoni, F., Hogrel, J.-Y., Carlier, P. G., & Servais, L. (October 2021). Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy. Annals of Clinical and Translational Neurology, 8 (10), 1938-1950. doi:10.1002/acn3.51417 |
Poleur, M., Annoussamy, M., Eggenspieler, D., DELSTANCHE, S., DARON, A., & Servais, L. (October 2021). Longitudinal follow-up of adult patients with spinal muscular atrophy undergoing nusinersen treatment using an innovative magneto-inertial device. Neuromuscular Disorders, 31, 130. doi:10.1016/j.nmd.2021.07.290 |
Poleur, M., Ulinici, A., DARON, A., Schneider, O., Farra, F. D., Demonceau, M., Annoussamy, M., Vissière, D., Eggenspieler, D., & Servais, L. (October 2021). Actimyo®: Normative data in a non-controlled environment. Neuromuscular Disorders, 31, 86-S87. doi:10.1016/j.nmd.2021.07.149 |
Servais, L., Camino, E., Clement, A., McDonald, C. M., Lukawy, J., Lowes, L. P., Eggenspieler, D., Cerreta, F., & Strijbos, P. (August 2021). First Regulatory Qualification of a Novel Digital Endpoint in Duchenne Muscular Dystrophy: A Multi-Stakeholder Perspective on the Impact for Patients and for Drug Development in Neuromuscular Diseases. Digital Biomarkers, 5 (2), 183-190. doi:10.1159/000517411 |
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 |
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 |
Poleur, M., Ulinici, A., DARON, A., Schneider, O., Dal Farra, F., Demonceau, M., Annoussamy, M., Vissière, D., Eggenspieler, D., & Servais, L. (2021). Normative data on spontaneous stride velocity, stride length, and walking activity in a non-controlled environment. Orphanet Journal of Rare Diseases. doi:10.1186/s13023-021-01956-5 |
Amor, F., Vu Hong, A., Corre, G., Sanson, M., Suel, L., Blaie, S., Servais, L., Voit, T., Richard, I., & Israeli, D. (June 2021). Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle, 12 (3), 677-693. doi:10.1002/jcsm.12708 |
Coratti, G., Pane, M., Brogna, C., Ricotti, V., Messina, S., D'Amico, A., Bruno, C., Vita, G., Berardinelli, A., Mazzone, E., Magri, F., Ricci, F., Mongini, T., Battini, R., Bello, L., Pegoraro, E., Baranello, G., Previtali, S. C., Politano, L., ... Mercuri, E. (June 2021). North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up. PLoS ONE, 16 (6), 0253882. doi:10.1371/journal.pone.0253882 |
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 |
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 |
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 |
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 |
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. |
BOEMER, F., Caberg, J.-H., Beckers, P., Dideberg, V., di Fiore, S., Bours, V., Marie, S., Dewulf, J., Marcelis, L., Deconinck, N., Daron, A., Blasco-Perez, L., Tizzano, E., Hiligsmann, M., Lombet, J., Pereira, T., Lopez-Granados, L., Shalchian-Tehran, S., van Assche, V., ... Servais, L. (2021). Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Scientific Reports, 11 (1), 19922. doi:10.1038/s41598-021-99496-2 |
Dangouloff, T., Boemer, F., & Servais, L. (2021). Newborn screening of neuromuscular diseases. Neuromuscular disorders : NMD. doi:10.1016/j.nmd.2021.07.008 |
Dangouloff, T., Botty, C., Beaudart, C., Servais, L., & Hiligsmann, M. (January 2021). Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. Orphanet Journal of Rare Diseases, 16 (1), 47. doi:10.1186/s13023-021-01695-7 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Dangouloff, T., Servais, L., & Hiligsmann, M. (2020). SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.191 Preliminary data for the cost-effectiveness assessment of the newborn screening for SMA in Belgium. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.08.193 |
Dangouloff, T., Servais, L., & Hiligsmann, M. (2020). SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.187 Systematic literature review of the economic burden and economic evaluations in spinal muscular atrophy. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.08.189 |
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 |
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 |
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 |
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 |
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 |
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]. American Academy of Neurology. doi:10.1212/WNL.0000000000009907 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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. |
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 |
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., 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. |
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. |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Bauche, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G., Beaufrere, A.-M., Pebrel-Richard, C., Thevenon, J., El Chehadeh-Djebbar, S., Faivre, L., Duffourd, Y., Ricci, F., ... Nicole, S. (2016). Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. American Journal of Human Genetics, 99 (3), 753-761. doi:10.1016/j.ajhg.2016.06.033 |
Seferian, A. M., Malfatti, E., Bosson, C., Pelletier, L., Taytard, J., Forin, V., Gidaro, T., Gargaun, E., Carlier, P., Faure, J., Romero, N. B., Rendu, J., & Servais, L. (2016). Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). Neuromuscular Disorders, 26 (10), 712-716. doi:10.1016/j.nmd.2016.07.011 |