{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T19:35:12Z","timestamp":1767900912783,"version":"3.49.0"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nervenarzt"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1007\/s00115-023-01495-3","type":"journal-article","created":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T17:55:31Z","timestamp":1684864531000},"page":"473-487","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Molekulare Therapien: Gegenwart und Zukunft bei neuromuskul\u00e4ren Erkrankungen","Molecular therapies: present and future in neuromuscular diseases"],"prefix":"10.1007","volume":"94","author":[{"given":"Andreas","family":"Ziegler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maggie C.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt E.","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,5,23]]},"reference":[{"key":"1495_CR1","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/humu.20918","volume":"30","author":"A Aartsma-Rus","year":"2009","unstructured":"Aartsma-Rus\u00a0A, Fokkema\u00a0I, Verschuuren\u00a0J et al (2009) Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 30:293\u2013299","journal-title":"Hum Mutat"},{"key":"1495_CR2","doi-asserted-by":"publisher","first-page":"185","DOI":"10.3233\/JND-150083","volume":"2","author":"SA Al-Zaidy","year":"2015","unstructured":"Al-Zaidy\u00a0SA, Sahenk\u00a0Z, Rodino-Klapac\u00a0LR et al (2015) Follistatin gene therapy improves ambulation in Becker muscular dystrophy. J\u00a0Neuromuscul Dis 2:185\u2013192","journal-title":"J Neuromuscul Dis"},{"key":"1495_CR3","volume-title":"GeneReviews(\u00ae)","author":"C Angelini","year":"1993","unstructured":"Angelini\u00a0C (1993) Calpainopathy. In: Adam\u00a0MP, Everman\u00a0DB, Mirzaa\u00a0GM, Pagon\u00a0RA, Wallace\u00a0SE, Bean\u00a0LJH, Gripp\u00a0KW, Amemiya\u00a0A (Hrsg) GeneReviews(\u00ae). University of Washington, Seattle"},{"key":"1495_CR4","first-page":"207","volume":"39","author":"C Angelini","year":"2020","unstructured":"Angelini\u00a0C (2020) LGMD. Identification, description and classification. Acta Myol 39:207\u2013217","journal-title":"Acta Myol"},{"key":"1495_CR5","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/S1474-4422(09)70271-6","volume":"9","author":"K Bushby","year":"2010","unstructured":"Bushby\u00a0K, Finkel\u00a0R, Birnkrant\u00a0DJ et\u00a0al (2010) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 9:77\u201393","journal-title":"Lancet Neurol"},{"key":"1495_CR6","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/S1474-4422(09)70272-8","volume":"9","author":"K Bushby","year":"2010","unstructured":"Bushby\u00a0K, Finkel\u00a0R, Birnkrant\u00a0DJ et\u00a0al (2010) Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 9:177\u2013189","journal-title":"Lancet Neurol"},{"key":"1495_CR7","doi-asserted-by":"publisher","first-page":"19183","DOI":"10.1073\/pnas.0805514105","volume":"105","author":"C Colussi","year":"2008","unstructured":"Colussi\u00a0C, Mozzetta\u00a0C, Gurtner\u00a0A et\u00a0al (2008) HDAC2 blockade by nitric oxide and histone deacetylase inhibitors reveals a\u00a0common target in Duchenne muscular dystrophy treatment. Proc Natl Acad Sci U S\u00a0A 105:19183\u201319187","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1495_CR8","doi-asserted-by":"publisher","first-page":"1095121","DOI":"10.3389\/fneur.2023.1095121","volume":"14","author":"GP Comi","year":"2023","unstructured":"Comi\u00a0GP, Niks\u00a0EH, Vandenborne\u00a0K et al (2023) Givinostat for Becker muscular dystrophy: a randomized, placebo-controlled, double-blind study. Front Neurol 14:1095121","journal-title":"Front Neurol"},{"key":"1495_CR9","volume-title":"MLB-01-002: a phase 1 randomized, blinded, placebo-controlled study of the safety, tolerability, and PK of BBP-418 (ribitol) in healthy subjects","author":"D Sproule","year":"2022","unstructured":"Sproule\u00a0D (2022) MLB-01-002: a phase 1 randomized, blinded, placebo-controlled study of the safety, tolerability, and PK of BBP-418 (ribitol) in healthy subjects. MDA Clinical & Scientific Conference, 13 au 16 mars 2022 (Poster #64)"},{"key":"1495_CR10","volume-title":"GeneReviews(\u00ae)","author":"BT Darras","year":"1993","unstructured":"Darras\u00a0BT, Urion\u00a0DK, Ghosh\u00a0PS (1993) Dystrophinopathies. In: Adam\u00a0MP, Everman\u00a0DB, Mirzaa\u00a0GM, Pagon\u00a0RA, Wallace\u00a0SE, Bean\u00a0LJH, Gripp\u00a0KW, Amemiya\u00a0A (Hrsg) GeneReviews(\u00ae). University of Washington, Seattle"},{"key":"1495_CR11","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1186\/s12887-022-03671-x","volume":"22","author":"JW Day","year":"2022","unstructured":"Day\u00a0JW, Howell\u00a0K, Place\u00a0A et\u00a0al (2022) Advances and limitations for the treatment of spinal muscular atrophy. BMC Pediatr 22:632","journal-title":"BMC Pediatr"},{"key":"1495_CR12","doi-asserted-by":"publisher","first-page":"950651","DOI":"10.3389\/fphar.2022.950651","volume":"13","author":"J Deng","year":"2022","unstructured":"Deng\u00a0J, Zhang\u00a0J, Shi\u00a0K et\u00a0al (2022) Drug development progress in duchenne muscular dystrophy. Front Pharmacol 13:950651","journal-title":"Front Pharmacol"},{"key":"1495_CR13","doi-asserted-by":"publisher","first-page":"2337","DOI":"10.1016\/j.ymthe.2018.07.011","volume":"26","author":"D Duan","year":"2018","unstructured":"Duan\u00a0D (2018) Systemic AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy. Mol Ther 26:2337\u20132356","journal-title":"Mol Ther"},{"key":"1495_CR14","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1002\/cphy.c140048","volume":"5","author":"QQ Gao","year":"2015","unstructured":"Gao\u00a0QQ, Mcnally\u00a0EM (2015) The dystrophin complex: structure, function, and implications for therapy. Compr Physiol 5:1223\u20131239","journal-title":"Compr Physiol"},{"key":"1495_CR15","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1089\/hum.2019.199","volume":"32","author":"DA Griffin","year":"2021","unstructured":"Griffin\u00a0DA, Pozsgai\u00a0ER, Heller\u00a0KN et al (2021) Preclinical systemic delivery of adeno-associated \u03b1\u2011Sarcoglycan gene transfer for limb-girdle muscular dystrophy. Hum Gene Ther 32:390\u2013404","journal-title":"Hum Gene Ther"},{"issue":"6","key":"1495_CR16","doi-asserted-by":"publisher","first-page":"865","DOI":"10.3390\/jpm12060865","volume":"12","author":"CL Himeda","year":"2022","unstructured":"Himeda\u00a0CL, Jones\u00a0PL (2022) FSHD therapeutic strategies: what will it take to get to clinic? J\u00a0Pers Med 12(6):865","journal-title":"J Pers Med"},{"key":"1495_CR17","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.pediatrneurol.2020.08.001","volume":"112","author":"J Horrigan","year":"2020","unstructured":"Horrigan\u00a0J, Gomes\u00a0TB, Snape\u00a0M et al (2020) A phase 2 study of AMO-02 (Tideglusib) in congenital and childhood-onset myotonic dystrophy type 1 (DM1). Pediatr Neurol 112:84\u201393","journal-title":"Pediatr Neurol"},{"key":"1495_CR18","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1038\/s41439-019-0083-5","volume":"6","author":"T Ikeda","year":"2019","unstructured":"Ikeda\u00a0T, Fujinaka\u00a0H, Goto\u00a0K et al (2019) Becker muscular dystrophy caused by exon 2\u2011truncating mutation of DMD. Hum Genome Var 6:52","journal-title":"Hum Genome Var"},{"key":"1495_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13395-022-00287-8","volume":"12","author":"S Jagannathan","year":"2022","unstructured":"Jagannathan\u00a0S, de Greef\u00a0JC, Hayward\u00a0LJ et\u00a0al (2022) Meeting report: the 2021 FSHD international research congress. Skelet Muscle 12:1","journal-title":"Skelet Muscle"},{"key":"1495_CR20","series-title":"Encyclopedia of cancer","first-page":"2364","volume-title":"Molecular therapy","author":"I Kausch","year":"2011","unstructured":"Kausch\u00a0I, Doehn\u00a0C (2011) Molecular therapy. Encyclopedia of cancer. Springer, Berlin, Heidelberg, S\u00a02364\u20132367"},{"key":"1495_CR21","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1016\/j.nmd.2021.08.003","volume":"31","author":"MW Lawlor","year":"2021","unstructured":"Lawlor\u00a0MW, Dowling\u00a0JJ (2021) X\u2011linked myotubular myopathy. Neuromuscul Disord 31:1004\u20131012","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"1495_CR22","doi-asserted-by":"publisher","first-page":"2886","DOI":"10.3390\/jcm9092886","volume":"9","author":"L Le Gall","year":"2020","unstructured":"Le Gall\u00a0L, Sidlauskaite\u00a0E, Mariot\u00a0V et\u00a0al (2020) Therapeutic strategies targeting DUX4 in FSHD. J\u00a0Clin Med 9(9):2886","journal-title":"J Clin Med"},{"key":"1495_CR23","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/S1474-4422(22)00125-9","volume":"21","author":"T Markati","year":"2022","unstructured":"Markati\u00a0T, Oskoui\u00a0M, Farrar\u00a0MA et\u00a0al (2022) Emerging therapies for Duchenne muscular dystrophy. Lancet Neurol 21:814\u2013829","journal-title":"Lancet Neurol"},{"key":"1495_CR24","doi-asserted-by":"publisher","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","volume":"390","author":"CM Mcdonald","year":"2017","unstructured":"Mcdonald\u00a0CM, Campbell\u00a0C, Torricelli\u00a0RE et al (2017) Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a\u00a0multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 390:1489\u20131498","journal-title":"Lancet"},{"key":"1495_CR25","doi-asserted-by":"publisher","first-page":"139","DOI":"10.2217\/cer-2021-0196","volume":"11","author":"CM Mcdonald","year":"2022","unstructured":"Mcdonald\u00a0CM, Muntoni\u00a0F, Penematsa\u00a0V et\u00a0al (2022) Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients. J\u00a0Comp Eff Res 11:139\u2013155","journal-title":"J Comp Eff Res"},{"key":"1495_CR26","doi-asserted-by":"publisher","first-page":"989","DOI":"10.3233\/JND-210643","volume":"8","author":"CM Mcdonald","year":"2021","unstructured":"Mcdonald\u00a0CM, Shieh\u00a0PB, Abdel-Hamid\u00a0HZ et al (2021) Open-label evaluation of eteplirsen in patients with Duchenne muscular dystrophy amenable to exon 51 skipping: PROMOVI trial. J\u00a0Neuromuscul Dis 8:989\u20131001","journal-title":"J Neuromuscul Dis"},{"key":"1495_CR27","doi-asserted-by":"publisher","first-page":"4658","DOI":"10.1111\/bcp.14884","volume":"87","author":"ML Mellion","year":"2021","unstructured":"Mellion\u00a0ML, Ronco\u00a0L, Berends\u00a0CL et\u00a0al (2021) Phase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: safety, tolerability, pharmacokinetics, and target engagement. Br J Clin Pharmacol 87:4658\u20134669","journal-title":"Br J Clin Pharmacol"},{"key":"1495_CR28","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1002\/ana.21732","volume":"66","author":"JR Mendell","year":"2009","unstructured":"Mendell\u00a0JR, Rodino-Klapac\u00a0LR, Rosales-Quintero\u00a0X et al (2009) Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol 66:290\u2013297","journal-title":"Ann Neurol"},{"key":"1495_CR29","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1002\/ana.22251","volume":"68","author":"JR Mendell","year":"2010","unstructured":"Mendell\u00a0JR, Rodino-Klapac\u00a0LR, Rosales\u00a0XQ et al (2010) Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 68:629\u2013638","journal-title":"Ann Neurol"},{"key":"1495_CR30","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1001\/jamaneurol.2020.1484","volume":"77","author":"JR Mendell","year":"2020","unstructured":"Mendell\u00a0JR, Sahenk\u00a0Z, Lehman\u00a0K et al (2020) Assessment of systemic delivery of rAAVrh74.MHCK7.micro-dystrophin in children with Duchenne muscular dystrophy: a nonrandomized controlled trial. JAMA Neurol 77:1122\u20131131","journal-title":"JAMA Neurol"},{"key":"1495_CR31","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1038\/mt.2014.200","volume":"23","author":"JR Mendell","year":"2015","unstructured":"Mendell\u00a0JR, Sahenk\u00a0Z, Malik\u00a0V et\u00a0al (2015) A phase 1\/2a follistatin gene therapy trial for becker muscular dystrophy. Mol Ther 23:192\u2013201","journal-title":"Mol Ther"},{"key":"1495_CR32","doi-asserted-by":"publisher","DOI":"10.1002\/med.21937","author":"J Merjane","year":"2023","unstructured":"Merjane\u00a0J, Chung\u00a0R, Patani\u00a0R et al (2023) Molecular mechanisms of amyotrophic lateral sclerosis as broad therapeutic targets for gene therapy applications utilizing adeno-associated viral vectors. Med Res Rev. https:\/\/doi.org\/10.1002\/med.21937","journal-title":"Med Res Rev"},{"key":"1495_CR33","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1097\/WCO.0000000000000964","volume":"34","author":"F Montagnese","year":"2021","unstructured":"Montagnese\u00a0F, Schoser\u00a0B (2021) New developments in myotonic dystrophies from a\u00a0multisystemic perspective. Curr Opin Neurol 34:738\u2013747","journal-title":"Curr Opin Neurol"},{"key":"1495_CR34","unstructured":"Europ\u00e4isches Parlament und Rat der EU (2001) Richtlinie 2001\/83\/EG zur Schaffung eines Gemeinschaftskodexes f\u00fcr Humanarzneimittel. https:\/\/eur-lex.europa.eu\/LexUriServ\/LexUriServ.do?uri=CONSLEG:2001L0083:20070126:de:PDF. Zugegriffen: 12.02.2023"},{"key":"1495_CR35","doi-asserted-by":"publisher","first-page":"103489","DOI":"10.1016\/j.drudis.2023.103489","volume":"28","author":"M Pascual-Gilabert","year":"2023","unstructured":"Pascual-Gilabert\u00a0M, Artero\u00a0R, L\u00f3pez-Castel\u00a0A (2023) The myotonic dystrophy type 1 drug development pipeline: 2022 edition. Drug Discov Today 28:103489","journal-title":"Drug Discov Today"},{"key":"1495_CR36","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1089\/hum.2017.062","volume":"29","author":"RA Potter","year":"2018","unstructured":"Potter\u00a0RA, Griffin\u00a0DA, Sondergaard\u00a0PC et al (2018) Systemic delivery of dysferlin overlap vectors provides long-term gene expression and functional improvement for dysferlinopathy. Hum Gene Ther 29:749\u2013762","journal-title":"Hum Gene Ther"},{"key":"1495_CR37","doi-asserted-by":"publisher","first-page":"411","DOI":"10.2217\/nmt-2020-0066","volume":"11","author":"E Pozsgai","year":"2021","unstructured":"Pozsgai\u00a0E, Griffin\u00a0D, Potter\u00a0R et\u00a0al (2021) Unmet needs and evolving treatment for limb girdle muscular dystrophies. Neurodegener Dis Manag 11:411\u2013429","journal-title":"Neurodegener Dis Manag"},{"key":"1495_CR38","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1016\/j.ymthe.2017.02.013","volume":"25","author":"ER Pozsgai","year":"2017","unstructured":"Pozsgai\u00a0ER, Griffin\u00a0DA, Heller\u00a0KN et al (2017) Systemic AAV-mediated \u03b2\u2011Sarcoglycan delivery targeting cardiac and skeletal muscle ameliorates histological and functional deficits in LGMD2E mice. Mol Ther 25:855\u2013869","journal-title":"Mol Ther"},{"key":"1495_CR39","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1038\/gt.2015.80","volume":"23","author":"ER Pozsgai","year":"2016","unstructured":"Pozsgai\u00a0ER, Griffin\u00a0DA, Heller\u00a0KN et al (2016) \u03b2\u2011Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice. Gene Ther 23:57\u201366","journal-title":"Gene Ther"},{"key":"1495_CR40","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1212\/01.wnl.0000306309.85301.e2","volume":"71","author":"LR Rodino-Klapac","year":"2008","unstructured":"Rodino-Klapac\u00a0LR, Lee\u00a0JS, Mulligan\u00a0RC et al (2008) Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology 71:240\u2013247","journal-title":"Neurology"},{"key":"1495_CR41","first-page":"170","volume-title":"Safety, \u03b2-Sarcoglycan expression, and functional outcomes from aystemic gene transfer of bidridistrogene xeboparvovec in limb-girdle muscular dystrophy type 2E\/R4","author":"PE Rodino-Klapac Lr","year":"2022","unstructured":"Rodino-Klapac Lr\u00a0PE, Lewis\u00a0S et al (2022) Safety, \u03b2\u2011Sarcoglycan expression, and functional outcomes from aystemic gene transfer of bidridistrogene xeboparvovec in limb-girdle muscular dystrophy type 2E\/R4. 27th International Hybrid Annual Congress of the World Muscle Society, Halifax, Nova Scotia, Canada, October 11\u201315, 2022, S 170"},{"key":"1495_CR42","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1124\/jpet.119.264689","volume":"374","author":"LA Rojas","year":"2020","unstructured":"Rojas\u00a0LA, Valentine\u00a0E, Accorsi\u00a0A et\u00a0al (2020) p38\u03b1 regulates expression of DUX4 in a\u00a0model of facioscapulohumeral muscular dystrophy. J\u00a0Pharmacol Exp Ther 374:489\u2013498","journal-title":"J Pharmacol Exp Ther"},{"key":"1495_CR43","doi-asserted-by":"publisher","first-page":"1094","DOI":"10.1161\/CIRCULATIONAHA.113.001340","volume":"128","author":"C Roudaut","year":"2013","unstructured":"Roudaut\u00a0C, Le Roy\u00a0F, Suel\u00a0L et al (2013) Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a\u00a0murine model of limb-girdle muscular dystrophy. Circulation 128:1094\u20131104","journal-title":"Circulation"},{"key":"1495_CR44","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1016\/j.nmd.2023.01.003","volume":"33","author":"A Sarkozy","year":"2023","unstructured":"Sarkozy\u00a0A, Quinlivan\u00a0R, Bourke\u00a0JP et\u00a0al (2023) 263rd ENMC international workshop: focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, the Netherlands, 13\u201315\u00a0May 2022. Neuromuscul Disord 33:274\u2013284","journal-title":"Neuromuscul Disord"},{"key":"1495_CR45","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1007\/s00115-022-01287-1","volume":"93","author":"B Schoser","year":"2022","unstructured":"Schoser\u00a0B (2022) Principles of translational gene therapy for neuromuscular diseases. Nervenarzt 93:537\u2013548","journal-title":"Nervenarzt"},{"key":"1495_CR46","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1002\/ajmg.c.31322","volume":"160c","author":"A Sch\u00fcller","year":"2012","unstructured":"Sch\u00fcller\u00a0A, Wenninger\u00a0S, Strigl-Pill\u00a0N et al (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 160c:80\u201388","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1495_CR47","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1089\/nat.2021.0043","volume":"32","author":"L Servais","year":"2022","unstructured":"Servais\u00a0L, Mercuri\u00a0E, Straub\u00a0V et al (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 Ther 32:29\u201339","journal-title":"Nucleic Acid Ther"},{"key":"1495_CR48","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00204-021-03184-z","volume":"96","author":"O Sheikh","year":"2022","unstructured":"Sheikh\u00a0O, Yokota\u00a0T (2022) Pharmacology and toxicology of eteplirsen and SRP-5051 for DMD exon 51 skipping: an update. Arch Toxicol 96:1\u20139","journal-title":"Arch Toxicol"},{"key":"1495_CR49","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1002\/acn3.172","volume":"2","author":"PC Sondergaard","year":"2015","unstructured":"Sondergaard\u00a0PC, Griffin\u00a0DA, Pozsgai\u00a0ER et\u00a0al (2015) AAV.Dysferlin overlap vectors restore function in dysferlinopathy animal models. Ann Clin Transl Neurol 2:256\u2013270","journal-title":"Ann Clin Transl Neurol"},{"issue":"3","key":"1495_CR50","doi-asserted-by":"publisher","first-page":"2697","DOI":"10.3390\/ijms24032697","volume":"24","author":"J Stoodley","year":"2023","unstructured":"Stoodley\u00a0J, Vallejo-Bedia\u00a0F, Seone-Miraz\u00a0D et al (2023) Application of antisense conjugates for the treatment of myotonic dystrophy type 1. Int J Mol Sci 24(3):2697","journal-title":"Int J Mol Sci"},{"key":"1495_CR51","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","volume":"28","author":"V Straub","year":"2018","unstructured":"Straub\u00a0V, Murphy\u00a0A, Udd\u00a0B (2018) 229th ENMC international workshop: limb girdle muscular dystrophies\u2014nomenclature and reformed classification Naarden, the Netherlands, 17\u201319 march 2017. Neuromuscul Disord 28:702\u2013710","journal-title":"Neuromuscul Disord"},{"key":"1495_CR52","doi-asserted-by":"publisher","first-page":"3538","DOI":"10.1021\/acs.jmedchem.9b01851","volume":"63","author":"B Tang","year":"2020","unstructured":"Tang\u00a0B, Frasinyuk\u00a0MS, Chikwana\u00a0VM et al (2020) Discovery and development of small-molecule inhibitors of glycogen synthase. J\u00a0Med Chem 63:3538\u20133551","journal-title":"J Med Chem"},{"issue":"18","key":"1495_CR53","doi-asserted-by":"crossref","first-page":"2824","DOI":"10.1212\/WNL.98.18_supplement.2824","volume":"98","author":"RSJ Tawil","year":"2022","unstructured":"Tawil\u00a0RSJ, Wang\u00a0L, Genge\u00a0A, Sacconi\u00a0S, Lochmuller\u00a0H et al (2022) A phase 2, randomized, double-blind, placebo-controlled, 48-week study of the efficacy and safety of losmapimod in subjects with FSHD: ReDUX4 (S23.007). Neurology 98(18):2824","journal-title":"Neurology"},{"issue":"2","key":"1495_CR54","doi-asserted-by":"publisher","first-page":"302","DOI":"10.3390\/biomedicines10020302","volume":"10","author":"Z Unnisa","year":"2022","unstructured":"Unnisa\u00a0Z, Yoon\u00a0JK, Schindler\u00a0JW et\u00a0al (2022) Gene therapy developments for Pompe disease. Biomedicines 10(2):302. https:\/\/doi.org\/10.3390\/biomedicines10020302","journal-title":"Biomedicines"},{"key":"1495_CR55","volume-title":"The design, baseline characteristics, and 6\u201312\u00a0months follow-up from a\u00a0LGMDR9 European multi-center natural history study","author":"JST Vissing","year":"2022","unstructured":"Vissing\u00a0JST, Straub\u00a0V et al (2022) The design, baseline characteristics, and 6\u201312\u00a0months follow-up from a\u00a0LGMDR9 European multi-center natural history study. Myology 2022 Annual Meeting, Nice (France), September 12\u201315, 2022"},{"key":"1495_CR56","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1002\/mus.27347","volume":"64","author":"KR Wagner","year":"2021","unstructured":"Wagner\u00a0KR, Kuntz\u00a0NL, Koenig\u00a0E et al (2021) Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: a randomized, double-blind, placebo-controlled, dose-titration trial. Muscle Nerve 64:285\u2013292","journal-title":"Muscle Nerve"},{"key":"1495_CR57","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1007\/s00115-021-01251-5","volume":"93","author":"A Ziegler","year":"2022","unstructured":"Ziegler\u00a0A (2022) Precision medicine in pediatric neurology exemplified by the new treatment forms. Nervenarzt 93:122\u2013134","journal-title":"Nervenarzt"}],"container-title":["Der Nervenarzt"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-023-01495-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00115-023-01495-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-023-01495-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T20:45:50Z","timestamp":1702500350000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00115-023-01495-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,23]]},"references-count":57,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["1495"],"URL":"https:\/\/doi.org\/10.1007\/s00115-023-01495-3","relation":{},"ISSN":["0028-2804","1433-0407"],"issn-type":[{"value":"0028-2804","type":"print"},{"value":"1433-0407","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,23]]},"assertion":[{"value":"14 April 2023","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 May 2023","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"A.\u00a0Ziegler hat an wissenschaftlichen Veranstaltungen teilgenommen, die von den Firmen Biogen und Sarepta Therapeutics gesponsort wurden. Er ist als Berater f\u00fcr Advisory Boards der Firmen PTC, Avexis, Biogen, Novartis Pharma, Pfizer und Roche in Dienstaufgabe, an Wochenenden in Nebent\u00e4tigkeit, t\u00e4tig. Zudem war er als Referent f\u00fcr Industriesymposien der Firmen Biogen und Avexis\/Novartis Gene Therapies t\u00e4tig. Mit Biogen besteht ein Sponsor Research Agreement, au\u00dferhalb des dargestellten Themas. Diese Firmen stellen Therapien f\u00fcr neuromuskul\u00e4re Erkrankungen her. M.C.\u00a0Walter gibt Teilnehmen an bezahlten Beratungsveranstaltungen der Firmen AveXis Pharma, Biogen Pharma GmbH, Gr\u00fcnenthalPharma AG, Novartis Pharma GmbH, Pfizer Inc., PharNEXT, PTC Therapeutics, Roche Pharma AG, RTI HS, Santhera Pharmaceuticals, Sarepta Therapeutics Inc, Ultragenyx, Wave Sciences Technology an. Zus\u00e4tzlich erfolgten Honorarzahlungen f\u00fcr Vortr\u00e4ge und Reisen durch die Firmen Biogen Pharma GmbH, Colloquium Neurologicum, Novartis Pharma GmbH, PTC Therapeutics, SantheraPharmaceuticals, Ultragenyx. Bezahlte Beratungen erfolgten f\u00fcr die Firmen Affinia, Audentes Therapeutics, Avexis, Biogen Pharma GmbH, BridgeBio, Edgewise, Fulcrum Therapeutics, GLG Consult, Gr\u00fcnenthal Pharma, Guidepoint Global, ML Bio, Novartis Pharma GmbH, Pfizer Inc., PharNEXT, PTC therapeutics, Roche Pharma AG. B.E.\u00a0Schoser hat an wissenschaftlichen Veranstaltungen teilgenommen, die von den Firmen Argenex, Kedrion und Sanofi Biogen gesponsert wurden. Er ist als Berater f\u00fcr Advisory Boards der Firmen Amicus, Astellas, Argenx, Bayer, Sanofi und Taysha t\u00e4tig. Er erh\u00e4lt Forschungsunterst\u00fctzung von der Deutschen Forschungsgemeinschaft (DFG), EU-Horizon 2020, Amcius, AMDA USA, Marigold Foundation Kanada.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autor\/-innen keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}