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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 5
2008 5
2010 3
2011 6
2012 2
2013 7
2014 3
2015 1
2017 1
2020 4
2021 5
2022 1
2023 3
2024 1

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39 results

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Page 1
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.
Genetic neuropathies presenting with CIDP-like features in childhood.
Fernandez-Garcia MA, Stettner GM, Kinali M, Clarke A, Fallon P, Knirsch U, Wraige E, Jungbluth H. Fernandez-Garcia MA, et al. Among authors: stettner gm. Neuromuscul Disord. 2021 Feb;31(2):113-122. doi: 10.1016/j.nmd.2020.11.013. Epub 2020 Nov 30. Neuromuscul Disord. 2021. PMID: 33386210 Review.
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.
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.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Rüsch CT, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y. Tremblay-Laganière C, et al. Among authors: stettner gm. Genet Med. 2021 Oct;23(10):1873-1881. doi: 10.1038/s41436-021-01215-9. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113002 Free PMC article.
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.
Syrbe S, Stettner GM, Bally J, Borggraefe I, Bien CI, Ferfoglia RI, Huppke P, Kern J, Polster T, Probst-Müller E, Schmid S, Steinfeld R, Strozzi S, Weichselbaum A, Weitz M, Ziegler A, Wandinger KP, Leypoldt F, Bien CG. Syrbe S, et al. Among authors: stettner gm. Neurology. 2020 Jun 2;94(22):e2290-e2301. doi: 10.1212/WNL.0000000000009523. Epub 2020 May 18. Neurology. 2020. PMID: 32424051
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.
39 results