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A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Enzmann C, Steiner L, Pospieszny K, Zweier C, Plattner K, Baumann D, Henzi B, Galiart E, Fink M, Jacquier D, Stettner GM, Ripellino P, Fluss J, Klein A; Swiss-Reg-NMD Group. Enzmann C, et al. Among authors: stettner gm. J Neuromuscul Dis. 2024;11(5):1021-1033. doi: 10.3233/JND-240023. J Neuromuscul Dis. 2024. PMID: 39213089 Free PMC article.
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.
Tscherter A, Rüsch CT, Baumann D, Enzmann C, Hasselmann O, Jacquier D, Jung HH, Kruijshaar ME, Kuehni CE, Neuwirth C, Stettner GM, Klein A; Swiss-Reg-NMD group. Tscherter A, et al. Among authors: stettner gm. Neuromuscul Disord. 2022 May;32(5):399-409. doi: 10.1016/j.nmd.2022.02.001. Epub 2022 Feb 9. Neuromuscul Disord. 2022. PMID: 35337708 Free article.
Mental health challenges and digital platform opportunities in patients and families affected by pediatric neuromuscular diseases - experiences from Switzerland.
Gruebner O, van Haasteren A, Hug A, Elayan S, Sykora M, Albanese E, Stettner GM, Waldboth V, Messmer-Khosla S, Enzmann C, Baumann D, von Wyl V, Fadda M, Wolf M, von Rhein M. Gruebner O, et al. Among authors: stettner gm. Digit Health. 2023 Nov 16;9:20552076231213700. doi: 10.1177/20552076231213700. eCollection 2023 Jan-Dec. Digit Health. 2023. PMID: 38025108 Free PMC article. Review.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Among authors: stettner gm. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. Stafki SA, et al. Among authors: stettner gm. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36791574 Free PMC article.
Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry.
Steiner L, Tscherter A, Henzi B, Branca M, Carda S, Enzmann C, Fluss J, Jacquier D, Neuwirth C, Ripellino P, Scheidegger O, Schlaeger R, Schreiner B, Stettner GM, Klein A; Swiss-Reg-NMD Group. Steiner L, et al. Among authors: stettner gm. J Clin Med. 2024 May 9;13(10):2798. doi: 10.3390/jcm13102798. J Clin Med. 2024. PMID: 38792340 Free PMC article.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: stettner gm. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines.
Korinthenberg R, Trollmann R, Plecko B, Stettner GM, Blankenburg M, Weis J, Schoser B, Müller-Felber W, Lochbuehler N, Hahn G, Rudnik-Schöneborn S. Korinthenberg R, et al. Among authors: stettner gm. Children (Basel). 2021 Aug 9;8(8):687. doi: 10.3390/children8080687. Children (Basel). 2021. PMID: 34438578 Free PMC article. Review.
43 results