{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T10:01:07Z","timestamp":1753437667637},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2018,8,31]],"date-time":"2018-08-31T00:00:00Z","timestamp":1535673600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nervenarzt"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1007\/s00115-018-0599-9","type":"journal-article","created":{"date-parts":[[2018,8,31]],"date-time":"2018-08-31T13:19:21Z","timestamp":1535721561000},"page":"1115-1122","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Innovative Therapieans\u00e4tze bei heredit\u00e4ren neuromuskul\u00e4ren Erkrankungen"],"prefix":"10.1007","volume":"89","author":[{"given":"J.","family":"Kirschner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,8,31]]},"reference":[{"key":"599_CR1","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.ymthe.2016.10.014","volume":"25","author":"EL Agtmaal van","year":"2017","unstructured":"van Agtmaal EL, Andr\u00e9 LM, Willemse M et al (2017) CRISPR\/Cas9-induced (CTG\u00b7CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing. Mol Ther 25:24\u201343","journal-title":"Mol Ther"},{"key":"599_CR2","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1016\/j.hoc.2017.06.007","volume":"31","author":"T Athanasopoulos","year":"2017","unstructured":"Athanasopoulos T, Munye MM, Yanez-Munoz RJ (2017) Nonintegrating gene therapy vectors. Hematol Oncol Clin North Am 31:753\u2013770","journal-title":"Hematol Oncol Clin North Am"},{"key":"599_CR3","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/j.cell.2017.07.010","volume":"170","author":"R Batra","year":"2017","unstructured":"Batra R, Nelles DA, Pirie E et al (2017) Elimination of toxic microsatellite repeat expansion RNA by RNA-targeting Cas9. Cell 170:899\u2013912","journal-title":"Cell"},{"key":"599_CR4","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1002\/mus.26018","volume":"57","author":"AH Beggs","year":"2018","unstructured":"Beggs AH, Byrne BJ, De Chastonay S et al (2018) A multicenter, retrospective medical record review of X\u2011linked myotubular myopathy: the recensus study. Muscle Nerve 57:550\u2013560","journal-title":"Muscle Nerve"},{"key":"599_CR5","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1007\/s00112-015-0004-8","volume":"163","author":"S Borell","year":"2015","unstructured":"Borell S, Pechmann A, Kirschner J (2015) Spinale Muskelatrophie \u2013 Diagnose und Therapie. Monatsschr Kinderheilkd 163:1293\u20131304","journal-title":"Monatsschr Kinderheilkd"},{"key":"599_CR6","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1002\/mus.24332","volume":"50","author":"K Bushby","year":"2014","unstructured":"Bushby K, Finkel R, Wong B et\u00a0al (2014) Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve 50:477\u2013487","journal-title":"Muscle Nerve"},{"issue":"3","key":"599_CR7","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1089\/humc.2014.2514","volume":"25","author":"PI Byrne","year":"2014","unstructured":"Byrne PI, Collins S, Mah CC et al (2014) Phase I\/II trial of diaphragm delivery of recombinant adeno-associated virus acid alpha-glucosidase (rAAaV1-CMV-GAA) gene vector in patients with Pompe disease. Hum Gene Ther Clin Dev 25(3):134\u2013163","journal-title":"Hum Gene Ther Clin Dev"},{"issue":"4","key":"599_CR8","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1089\/humc.2017.146","volume":"28","author":"M Corti","year":"2017","unstructured":"Corti M, Liberati C, Smith BK et al (2017) Safety of intradiaphragmatic delivery of adeno-associated virus-mediated alpha-glucosidase (rAAV1-CMV-hGAA) gene therapy in children affected by Pompe disease. Hum Gene Ther Clin Dev 28(4):208\u2013218","journal-title":"Hum Gene Ther Clin Dev"},{"key":"599_CR9","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT et al (2017) Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N\u00a0Engl J Med 377:1723\u20131732","journal-title":"N Engl J Med"},{"issue":"6","key":"599_CR10","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1038\/mt.2011.34","volume":"19","author":"H Fu","year":"2011","unstructured":"Fu H, Dirosario J, Killedar S et al (2011) Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. Mol Ther 19(6):1025\u20131033","journal-title":"Mol Ther"},{"key":"599_CR11","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1038\/nrm1050","volume":"4","author":"P Ghosh","year":"2003","unstructured":"Ghosh P, Dahms NM, Kornfeld S (2003) Mannose 6\u2011phosphate receptors: new twists in the tale. Nat Rev Mol Cell Biol 4:202\u2013212","journal-title":"Nat Rev Mol Cell Biol"},{"key":"599_CR12","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.nmd.2017.10.004","volume":"28","author":"N Goemans","year":"2018","unstructured":"Goemans N, Mercuri E, Belousova E et al (2018) A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscul Disord 28:4\u201315","journal-title":"Neuromuscul Disord"},{"key":"599_CR13","doi-asserted-by":"publisher","first-page":"2171","DOI":"10.1096\/fj.13-241893","volume":"28","author":"DD Koeberl","year":"2014","unstructured":"Koeberl DD, Austin S, Case LE et al (2014) Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB\u00a0J 28:2171\u20132176","journal-title":"FASEB J"},{"key":"599_CR14","doi-asserted-by":"publisher","first-page":"5342","DOI":"10.1093\/hmg\/ddu251","volume":"23","author":"SM Maarel","year":"2014","unstructured":"Maarel SM, Tawil R et al (2014) DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle. Hum Mol Genet 23:5342\u20135352","journal-title":"Hum Mol Genet"},{"issue":"3","key":"599_CR15","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1038\/mt.2009.305","volume":"18","author":"CS Mah","year":"2010","unstructured":"Mah CS, Falk DJ, Germain SA et al (2010) Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease. Mol Ther 18(3):502\u2013510","journal-title":"Mol Ther"},{"key":"599_CR16","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/ana.23982","volume":"74","author":"JR Mendell","year":"2013","unstructured":"Mendell JR, Rodino-Klapac LR, Sahenk Z et al (2013) Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 74:637\u2013647","journal-title":"Ann Neurol"},{"key":"599_CR17","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","volume":"377","author":"JR Mendell","year":"2017","unstructured":"Mendell JR, Al-Zaidy S, Shell R et al (2017) Single-dose gene-replacement therapy for spinal muscular atrophy. N\u00a0Engl J Med 377:1713\u20131722","journal-title":"N Engl J Med"},{"key":"599_CR18","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1056\/NEJMoa1710504","volume":"378","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Darras BT, Chiriboga CA et al (2018) Nusinersen versus sham control in later-onset spinal muscular atrophy. N\u00a0Engl J Med 378:625\u2013635","journal-title":"N Engl J Med"},{"key":"599_CR19","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1038\/mt.2014.138","volume":"22","author":"G Parenti","year":"2014","unstructured":"Parenti G, Fecarotta S, la Marca G et al (2014) A chaperone enhances blood alpha-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. Mol Ther 22:2004\u20132012","journal-title":"Mol Ther"},{"key":"599_CR20","doi-asserted-by":"publisher","first-page":"135","DOI":"10.3233\/JND-180315","volume":"5","author":"A Pechmann","year":"2018","unstructured":"Pechmann A, Langer T, Schorling D et\u00a0al (2018) Evaluation of children with SMA type 1 under treatment with Nusinersen within the expanded access program in Germany. J\u00a0Neuromuscul Dis 5:135\u2013143","journal-title":"J Neuromuscul Dis"},{"issue":"8","key":"599_CR21","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.4161\/auto.6.8.13378","volume":"6","author":"N Raben","year":"2010","unstructured":"Raben N, Schreiner C, Baum R et al (2010) Suppression of autophagy permits successful enzyme replacement therapy in a\u00a0lysosomal storage disorder-murine Pompe disease. Autophagy 6(8):1078\u20131089","journal-title":"Autophagy"},{"key":"599_CR22","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1007\/s00415-016-8219-8","volume":"264","author":"B Schoser","year":"2017","unstructured":"Schoser B, Stewart A, Kanters S et al (2017) Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a\u00a0systematic review and meta-analysis. J\u00a0Neurol 264:621\u2013630","journal-title":"J Neurol"},{"key":"599_CR23","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/2044-5040-4-12","volume":"4","author":"R Tawil","year":"2014","unstructured":"Tawil R, van der Maarel SM, Tapscott SJ (2014) Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle 4:12","journal-title":"Skelet Muscle"},{"key":"599_CR24","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s00112-011-2603-3","volume":"160","author":"J Vry","year":"2012","unstructured":"Vry J, Schara U, Lutz S, Kirschner J (2012) Diagnose und Therapie der Muskeldystrophie Duchenne. Monatsschr Kinderheilkd 160:177\u2013186","journal-title":"Monatsschr Kinderheilkd"},{"key":"599_CR25","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.omtm.2017.12.005","volume":"8","author":"LM Wallace","year":"2018","unstructured":"Wallace LM, Saad NY, Pyne NK et al (2018) Pre-clinical safety and off-target studies to support translation of AAV-mediated RNAi therapy for FSHD. Mol Ther Methods Clin Dev 8:121\u20131230","journal-title":"Mol Ther Methods Clin Dev"},{"key":"599_CR26","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1016\/j.nmd.2018.02.003","volume":"28","author":"L Wood","year":"2018","unstructured":"Wood L, Bassez G, van Engelen B, Lochm\u00fcller H, Schoser B (2018) 222nd ENMC International Workshop: myotonic dystrophy, developing a\u00a0European consortium for care and therapy, Naarden, The Netherlands, 1\u20132 July 2016. Neuromuscul Disord 28:463\u2013469","journal-title":"Neuromuscul Disord"},{"key":"599_CR27","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1038\/mt.2009.37","volume":"17","author":"Y Zhu","year":"2009","unstructured":"Zhu Y, Jiang JL, Gumlaw NK et\u00a0al (2009) Glycoengineered acid alphaglucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a\u00a0mouse model of Pompe disease. Mol Ther 17:954\u2013963","journal-title":"Mol Ther"}],"container-title":["Der Nervenarzt"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00115-018-0599-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-018-0599-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-018-0599-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,31]],"date-time":"2019-08-31T11:11:22Z","timestamp":1567249882000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00115-018-0599-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,31]]},"references-count":27,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["599"],"URL":"https:\/\/doi.org\/10.1007\/s00115-018-0599-9","relation":{},"ISSN":["0028-2804","1433-0407"],"issn-type":[{"value":"0028-2804","type":"print"},{"value":"1433-0407","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,31]]},"assertion":[{"value":"31 August 2018","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"Die Autoren weisen auf folgende Beziehungen hin. J.\u00a0Kirschner erhielt Zuwendungen f\u00fcr klinische Forschungsprojekte, Beratert\u00e4tigkeit und Vortr\u00e4ge von Avexis, Biogen, Novartis, PTC, Roche, Sanofi, Santhera und Sarepta. B.\u00a0Schoser ist Mitglied des Audentes Therapeutics Board of Scientific and Clinical Advisors. Er wird durch eine \u201eunrestricted research grant\u201c, durch Vortragshonorare, und Reisekostenzusch\u00fcsse von Sanofi Genzyme unterst\u00fctzt, und er erhielt Honorare f\u00fcr seine Arbeit als Mitglied in Global Advisory Boards der Firmen Amicus Therapeutics, Valerion Therapeutics, Vertex Therapeutics.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"Dieser Beitrag beinhaltet keine von den Autoren durchgef\u00fchrten Studien an Menschen oder Tieren.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics"}}]}}