 | Up a level |
Kirschner, Janbernd; Bernert, Günther; Butoianu, Nina; De Waele, Liesbeth; Fattal-Valevski, Aviva; Haberlova, Jana; Moreno, Teresa; Klein, Andrea; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F; van der Pol, W Ludo; Wallace, Sean; Zafeiriou, Dimitrios; Ziegler, Andreas; Muntoni, Francesco; Servais, Laurent (2024). 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. European journal of paediatric neurology, 51, pp. 73-78. Elsevier 10.1016/j.ejpn.2024.06.001
Steiner, Leonie; Tscherter, Anne; Henzi, Bettina; Branca, Mattia; Carda, Stefano; Enzmann, Cornelia; Fluss, Joël; Jacquier, David; Neuwirth, Christoph; Ripellino, Paolo; Scheidegger, Olivier; Schlaeger, Regina; Schreiner, Bettina; Stettner, Georg M.; Klein, Andrea (2024). Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry. Journal of clinical medicine, 13(10), p. 2798. MDPI 10.3390/jcm13102798
Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153
Kerr, Lauren M.; Ryan, Morgan E.; Lim, Ming; Hearn, Sarah; Klein, Andrea; Deiva, Kumaran; Hopkins, Sarah E.; Bacchus, Micky K.; Sokol, Elizabeth A.; Waanders, Angela J.; Mitchell, Wendy G.; Khakoo, Yasmin; Lotze, Timothy E.; Zhang, Bo; Gorman, Mark P. (2023). An International Pediatric-Onset Opsoclonus-Myoclonus Ataxia Syndrome Registry and Clinical Research Network: Development, Progress, and Vision. Pediatric neurology, 148, pp. 145-147. Elsevier 10.1016/j.pediatrneurol.2023.05.006
Henzi, Bettina C; Baumann, Dominique; Erni, Sarah J; Lötscher, Nadine; Tscherter, Anne; Klein, Andrea (2023). Effects of the COVID-19 Pandemic on Access to Education and Social Participation in Children and Adolescents with Duchenne Muscular Dystrophy in Switzerland. Neuropediatrics, 54(4), pp. 287-291. Thieme 10.1055/s-0043-1764434
Stettner, Georg M; Hasselmann, Oswald; Tscherter, Anne; Galiart, Elea; Jacquier, David; Klein, Andrea (2023). Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study. BMC neurology, 23(1), p. 88. BioMed Central 10.1186/s12883-023-03133-6
Bassetti, Claudio L. A.; Heldner, Mirjam R.; Adorjan, Kristina; Albanese, Emiliano; Allali, Gilles; Arnold, Marcel; Bègue, Indrit; Bochud, Murielle; Chan, Andrew; do Cuénod, Kim Q.; Du Pasquier, Renaud; Draganski, Bogdan; Eshmawey, Mohamed; Felbecker, Ansgar; Fischer, Urs; Frahsa, Annika; Frisoni, Giovanni B.; Grossmann, Harald; Guzman, Raphael; Hackenberg, Annette; ... (2023). The Swiss Brain Health Plan 2023–2033. Clinical and translational neuroscience, 7(4), p. 38. MDPI 10.3390/ctn7040038
van den Bersselaar, Luuk R; Heytens, Luc; Silva, Helga C A; Reimann, Jens; Tasca, Giorgio; Díaz-Cambronero, Óscar; Løkken, Nicoline; Hellblom, Anna; Hopkins, Philip M; Rueffert, Henrik; Bastian, Börge; Vilchez, Juan Jesus; Gillies, Robyn; Johannsen, Stephan; Veyckemans, Francis; Muenster, Tino; Klein, Andrea; Litman, Ron; Jungbluth, Heinz; Riazi, Sheila; ... (2022). The European Neuromuscular Centre Consensus Statement on Anaesthesia in Patients with Neuromuscular Disorders. European journal of neurology, 29(12), pp. 3486-3507. Wiley 10.1111/ene.15526
Masson, Riccardo; Mazurkiewicz-Bełdzińska, Maria; Rose, Kristy; Servais, Laurent; Xiong, Hui; Zanoteli, Edmar; Baranello, Giovanni; Bruno, Claudio; Day, John W; Deconinck, Nicolas; Klein, Andrea; Mercuri, Eugenio; Vlodavets, Dmitry; Wang, Yi; Dodman, Angela; El-Khairi, Muna; Gorni, Ksenija; Jaber, Birgit; Kletzl, Heidemarie; Gaki, Eleni; ... (2022). Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. The lancet. Neurology, 21(12), pp. 1110-1119. Elsevier 10.1016/S1474-4422(22)00339-8
Ramdas, Sithara; Della Marina, Adela; Ryan, Monique M; McWilliam, Kenneth; Klein, Andrea; Jacquier, David; Alabaf, Setareh; Childs, Anne-Marie; Parasuraman, Deepak; Beeson, David; Palace, Jacqueline; Jungbluth, Heinz (2022). Rituximab in juvenile myasthenia gravis-an international cohort study and literature review. European journal of paediatric neurology, 40, pp. 5-10. Elsevier 10.1016/j.ejpn.2022.06.009
Rossor, Thomas; Yeh, E Ann; Khakoo, Yasmin; Angelini, Paola; Hemingway, Cheryl; Irani, Sarosh R; Schleiermacher, Gudrun; Santosh, Paramala; Lotze, Tim; Dale, Russell C; Deiva, Kumaran; Hero, Barbara; Klein, Andrea; de Alarcon, Pedro; Gorman, Mark P; Mitchell, Wendy G; Lim, Ming (2022). Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. Neurology: Neuroimmunology and Neuroinflammation, 9(3) Wolters Kluwer Health 10.1212/NXI.0000000000001153
Tscherter, Anne; Rüsch, Christina T; Baumann, Dominique; Enzmann, Cornelia; Hasselmann, Oswald; Jacquier, David; Jung, Hans H; Kruijshaar, Michelle E; Kuehni, Claudia E; Neuwirth, Christoph; Stettner, Georg M; Klein, Andrea (2022). Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland. Neuromuscular disorders, 32(5), pp. 399-409. Elsevier 10.1016/j.nmd.2022.02.001
Casaulta, Carmen; Messerli, Florence; Rodriguez, Romy; Klein, Andrea; Riedel, Thomas (2022). Changes in ventilation distribution in children with neuromuscular disease using the insufflator/exsufflator technique: an observational study. Scientific reports, 12(1), p. 7009. Springer Nature 10.1038/s41598-022-11190-z
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R; Foley, A Reghan; Fare, Charlotte M; Ford, Alice F; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G; Buchert, Rebecca; ... (2022). Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature Communications, 13(1), p. 2306. Springer Nature 10.1038/s41467-022-30015-1
Kölbel, Heike; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara-Schmidt, Ulrike; Hoffmann, Georg F.; Gläser, Dieter; Röschinger, Wulf; Bernert, Günther; Klein, Andrea; Müller-Felber, Wolfgang (2022). Newborn screening program for spinal muscular atrophy. Der Nervenarzt, 93(2), pp. 135-141. Springer 10.1007/s00115-021-01204-y
Baranello, Giovanni; Darras, Basil T.; Day, John W.; Deconinck, Nicolas; Klein, Andrea; Masson, Riccardo; Mercuri, Eugenio; Rose, Kristy; El-Khairi, Muna; Gerber, Marianne; Gorni, Ksenija; Khwaja, Omar; Kletzl, Heidemarie; Scalco, Renata S.; Seabrook, Timothy; Fontoura, Paulo; Servais, Laurent (2021). Risdiplam in Type 1 Spinal Muscular Atrophy. New England journal of medicine NEJM, 384(10), pp. 915-923. Massachusetts Medical Society MMS 10.1056/NEJMoa2009965
Perdikari, Aliki; Klein, Andrea; Jacquier, David (2021). Spinale Muskelatrophie - ein Update. Paediatrica, 32(3), 4--. Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.3.2
Sheridan, Andrew; Kapur, Kush; Pinard, Ferne; Dietrich Alber, Fabienne; Camposano, Susana; Pike, Mike G; Klein, Andrea; Gorman, Mark P (2020). IQ predictors in pediatric opsoclonus myoclonus syndrome: a large international cohort study. Developmental medicine and child neurology, 62(12), pp. 1444-1449. Wiley 10.1111/dmcn.14628
Kirschner, Janbernd; Bernert, Günther; v. der Hagen, Maja; Hahn, Andreas; Johannsen, Jessika; Klein, Andrea; Müller-Felber, Wolfgang; Ziegler, Andreas; Schara, Ulrike (2020). Gene therapy for spinal muscular atrophy with onasemnogene abeparvovec. Statement of the German Speaking Society of Neuropediatrics. Monatsschrift Kinderheilkunde, 168(10), pp. 938-941. Springer-Verlag 10.1007/s00112-020-00944-6
Servais, Laurent; Straathof, Chiara S M; Schara, Ulrike; Klein, Andrea; Leinonen, Mika; Hasham, Shabir; Meier, Thomas; De Waele, Liesbeth; Gordish-Dressman, Heather; McDonald, Craig M; Mayer, Oscar H; Voit, Thomas; Mercuri, Eugenio; Buyse, Gunnar M (2020). Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy. Neuromuscular disorders, 30(1), pp. 5-16. Elsevier 10.1016/j.nmd.2019.10.008
Hafner, Patricia; Bonati, Ulrike; Klein, Andrea; Rubino, Daniela; Gocheva, Vanya; Schmidt, Simone; Schroeder, Jonas; Bernert, Günther; Laugel, Vincent; Steinlin, Maja; Capone, Andrea; Gloor, Monika; Bieri, Oliver; Hemkens, Lars G; Speich, Benjamin; Zumbrunn, Thomas; Gueven, Nuri; Fischer, Dirk (2019). Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Network Open, 2(10), e1914171. American Medical Association 10.1001/jamanetworkopen.2019.14171
Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; ... (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European journal of human genetics, 27(3), pp. 408-421. Nature Publishing Group 10.1038/s41431-018-0299-8
Nagy, S.; Schmidt, S.; Hafner, P.; Klein, Andrea; Rubino-Nacht, D.; Gocheva, V.; Bieri, O.; Vuillerot, C.; Bonati, U.; Fischer, D. (2019). Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy. Journal of visualized experiments, 143(143) MYJoVE Corporation 10.3791/58784
Sharkia, R.; Wierenga, K. J.; Kessel, A.; Azem, A.; Bertini, E.; Carrozzo, R.; Torraco, A.; Goffrini, P.; Ceccatelli Berti, C.; McCormick, M. E.; Plecko, B.; Klein, Andrea; Abela, L.; Hengel, H.; Schols, L.; Shalev, S.; Khayat, M.; Mahajnah, M.; Spiegel, R. (2019). Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Journal of inherited metabolic diseases, 42(2), pp. 264-275. Wiley 10.1002/jimd.12022
Ivanyuk, Anton; García Segarra, Nuria; Buclin, Thierry; Klein, Andrea; Jacquier, David; Newman, Christopher J; Blötzer, Clemens Florian (2018). Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution. Neuromuscular disorders, 28(10), pp. 865-867. Elsevier 10.1016/j.nmd.2018.08.004
Schmidt, Simone; Hafner, Patricia; Klein, Andrea; Rubino-Nacht, Daniela; Gocheva, Vanya; Schroeder, Jonas; Naduvilekoot Devasia, Arjith; Zuesli, Stephanie; Bernert, Guenther; Laugel, Vincent; Bloetzer, Clemens; Steinlin, Maja; Capone, Andrea; Gloor, Monika; Tobler, Patrick; Haas, Tanja; Bieri, Oliver; Zumbrunn, Thomas; Fischer, Dirk and Bonati, Ulrike (2018). Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis. Neuromuscular disorders, 28(1), pp. 16-23. Elsevier 10.1016/j.nmd.2017.10.003
Hennes, Eva-Maria; Baumann, Matthias; Schanda, Kathrin; Anlar, Banu; Bajer-Kornek, Barbara; Blaschek, Astrid; Brantner-Inthaler, Sigrid; Diepold, Katharina; Eisenkölbl, Astrid; Gotwald, Thaddäus; Kuchukhidze, Georgi; Gruber-Sedlmayr, Ursula; Häusler, Martin; Höftberger, Romana; Karenfort, Michael; Klein, Andrea; Koch, Johannes; Kraus, Verena; Lechner, Christian; Leiz, Steffen; ... (2017). Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome. Neurology, 89(9), pp. 900-908. Lippincott Williams & Wilkins 10.1212/WNL.0000000000004312
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280
Steinlin, Maja; Klein, Andrea; Haas-Lude, Karin; Zafeiriou, Dimitrios; Strozzi, Susi; Müller, Thomas; Gubser-Mercati, Danielle; Schmitt Mechelke, Thomas; Krägeloh-Mann, Ingeborg; Boltshauser, Eugen (2007). Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. European journal of paediatric neurology, 11(3), pp. 146-52. Oxford: Elsevier 10.1016/j.ejpn.2006.11.012
Klein, Andrea; Fischer, Dirk (2023). Neuromuskuläre Erkrankungen. In: Weber, Peter (ed.) Transition bei neurologischen Erkrankungen (pp. 103-114). Springer 10.1007/978-3-662-65724-9_13
