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 |
Le Goff, L., Seferian, A., Phelep, A., Rippert, P., Mathieu, M.-L., Cances, C., de Lattre, C., Durigneux, J., Gousse, G., Vincent-Genod, D., Ribault, S., Gómez García de la Banda, M., Quijano-Roy, S., Sarret, C., Servais, L., & Vuillerot, C. (2022). Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen. Neurological Sciences. doi:10.1007/s10072-022-06522-w |
Schrouff, I., Bethlen, S., Servais, L., & Thirion, T. (09 November 2022). Les nouveaux traitements dans l'amyotrophie spinale: faut-il revoies indications chirurgicales de hanche? [Paper presentation]. 96e congrès de la SOFCOT, Paris, France. |
Labasse, C., Brochier, G., Taratuto, A.-L., Cadot, B., Rendu, J., Monges, S., Biancalana, V., Quijano-Roy, S., Bui, M. T., Chanut, A., Madelaine, A., Lacène, E., Beuvin, M., Amthor, H., Servais, L., de Feraudy, Y., Erro, M., Saccoliti, M., Neto, O. A., ... Romero, N. B. (July 2022). Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 10 (1), 101. doi:10.1186/s40478-022-01400-0 |
Monseur, A., Carlin, B. P., Boulanger, B., Seferian, A., Servais, L., Freitag, C., Thielemans, L., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D’Amico, A., Dowling, J. J., Darras, B. T., Daron, A., Hernandez, A., de Lattre, C., Arnal, J.-M., ... the NatHis-MTM Study Group. (July 2022). Leveraging Natural History Data in One- and Two-Arm Hierarchical Bayesian Studies of Rare Disease Progression. Statistics in Biosciences, 14 (2), 237 - 258. doi:10.1007/s12561-021-09323-5 |
Zaharieva, I. T., Scoto, M., Aragon-Gawinska, K., Ridout, D., Doreste, B., Servais, L., Muntoni, F., & Zhou, H. (July 2022). Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of Clinical and Translational Neurology, 9 (7), 1011-1026. doi:10.1002/acn3.51579 |
Dangouloff, T., Hiligsmann, M., Deconinck, N., D'Amico, A., Seferian, A. M., Boemer, F., & Servais, L. (2022). Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Developmental Medicine and Child Neurology. doi:10.1111/dmcn.15286 |
SCHROUFF, I., BETHLEN, S., Servais, L., THIRION, T., & GEORIS, P. (Other coll.). (23 March 2022). Les nouveaux traitements dans l’amyotrophie spinale : faut-il revoir les indications chirurgicales des luxations de hanche ? [Paper presentation]. SOFOP, Lille, France. |
Servais, L., Mercuri, E., Straub, V., Guglieri, M., Seferian, A. M., Scoto, M., Leone, D., Koenig, E., Khan, N., Dugar, A., Wang, X., Han, B., Wang, D., & Muntoni, F. (February 2022). Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic Acid Therapeutics, 32 (1), 29-39. doi:10.1089/nat.2021.0043 |
Stimpson, G., Raquq, S., Chesshyre, M., Fewtrell, M., Ridout, D., Sarkozy, A., Manzur, A., Ayyar Gupta, V., De Amicis, R., Muntoni, F., Baranello, G., NorthStar Network, & Servais, L. (24 January 2022). Growth pattern trajectories in boys with Duchenne muscular dystrophy. Orphanet Journal of Rare Diseases, 17 (1), 20. doi:10.1186/s13023-021-02158-9 |
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 |
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 |
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 |
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 |
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 |
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., Servais, L., & Hiligsmann, M. (2020). SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.191 Preliminary data for the cost-effectiveness assessment of the newborn screening for SMA in Belgium. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.08.193 |
Dangouloff, T., Servais, L., & Hiligsmann, M. (2020). SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.187 Systematic literature review of the economic burden and economic evaluations in spinal muscular atrophy. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.08.189 |
Veerapandiyan, A., Connolly, A. M., Finkel, R. S., Arya, K., Mathews, K. D., Smith, E. C., Castro, D., Butterfield, R. J., Parsons, J. A., Servais, L., Kuntz, N., Rao, V. K., Brandsema, J. F., Mercuri, E., Centro Clinico Nemo, P. G., & Ciafaloni, E. (July 2020). Spinal muscular atrophy care in the COVID-19 pandemic era. Muscle and Nerve, 62 (1), 46/49. doi:10.1002/mus.26903 |
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 |
Daron, A., DELSTANCHE, S., Dangouloff, T., & Servais, L. (February 2019). Amyotrophie spinale infantile (R)évolution thérapeutique. Revue Médicale de Liège, 74 (2), 82-85. |
Dangouloff, T., BOEMER, F., CABERG, J.-H., DIFIORE, S., BECKERS, P., MARIE, S., MARCELIS, L., & Servais, L. (2019). Reducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience. Neuromuscular Disorders, 29, 132. doi:10.1016/j.nmd.2019.06.339 |
JACQUINET, A., Bonnard, A., Capri, Y., Martin, D., Sadzot, B., Bianchi, E., Servais, L., SACRE, J.-P., Cave, H., & Verloes, A. (January 2019). Oligo-astrocytoma in LZTR1-related Noonan syndrome. European Journal of Medical Genetics, 63 (1), 103617. doi:10.1016/j.ejmg.2019.01.007 |
Chabanon, A., Seferian, A. M., DARON, A., Pereon, Y., Cances, C., Vuillerot, C., De Waele, L., Cuisset, J.-M., Laugel, V., Schara, U., Gidaro, T., Gilabert, S., Hogrel, J.-Y., Baudin, P.-Y., Carlier, P., Fournier, E., Lowes, L. P., Hellbach, N., Seabrook, T., ... Servais, L. (July 2018). Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS ONE, 13 (7), 0201004. doi:10.1371/journal.pone.0201004 |
Boussaid, G., Vuillerot, C., Pisco Domingos, J., Dany, A., Ricci, E., Servais, L., & Constant Boyer, F. (2018). Criteres de jugement pour les essais cliniques dans les maladies neuromusculaires. MS. Medecine Sciences, 34 Hors serie n degrees 2, 49-50. doi:10.1051/medsci/201834s216 |
Dangouloff, T., Hiligsmann, M., CABERG, J.-H., BOEMER, F., & Servais, L. (2018). Development of a decision-analytic model for the economic evaluation of newborn screening for spinal muscular atrophy. Neuromuscular Disorders, 28 (S29–S146), 59. doi:10.1016/j.nmd.2018.06.125 |
Domenger, C., Allais, M., Francois, V., Leger, A., Lecomte, E., Montus, M., Servais, L., Voit, T., Moullier, P., Audic, Y., & Le Guiner, C. (2018). RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect. Molecular Therapy: Nucleic Acids, 10, 277-291. doi:10.1016/j.omtn.2017.12.008 |
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 |