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Page 1
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A. Thiel M, et al. Among authors: stuve b. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24. J Neurol Neurosurg Psychiatry. 2023. PMID: 37225406
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
Pechmann A, Baumann M, Bernert G, Flotats-Bastardas M, Gruber-Sedlmayr U, von der Hagen M, Hasselmann O, Hobbiebrunken E, Horber V, Johannsen J, Kellersmann A, Köhler C, von Moers A, Müller-Felber W, Plecko B, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stoltenburg C, Stüve B, Theophil M, Weiß C, Wiegand G, Wilichowski E, Winter B, Wittmann W, Schara U, Kirschner J. Pechmann A, et al. Among authors: stuve b. J Neuromuscul Dis. 2020;7(1):41-46. doi: 10.3233/JND-190441. J Neuromuscul Dis. 2020. PMID: 31744015
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity.
Zhang P, Cobat A, Lee YS, Wu Y, Bayrak CS, Boccon-Gibod C, Matuozzo D, Lorenzo L, Jain A, Boucherit S, Vallée L, Stüve B, Chabrier S, Casanova JL, Abel L, Zhang SY, Itan Y. Zhang P, et al. Among authors: stuve b. Am J Hum Genet. 2021 Jun 3;108(6):1012-1025. doi: 10.1016/j.ajhg.2021.04.023. Epub 2021 May 19. Am J Hum Genet. 2021. PMID: 34015270 Free PMC article.
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Gangfuß A, Hentschel A, Rademacher N, Sickmann A, Stüve B, Horvath R, Gross C, Kohlschmidt N, Förster F, Abicht A, Schänzer A, Schara-Schmidt U, Roos A, Della Marina A. Gangfuß A, et al. Among authors: stuve b. Hum Mutat. 2022 Apr;43(4):477-486. doi: 10.1002/humu.24338. Epub 2022 Feb 16. Hum Mutat. 2022. PMID: 35112411
Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS.
Chen S, A B, Koukou G, Wendel EM, Thiels C, Baumann M, Lechner C, Blaschek A, Della Marina A, Classen G, Stüve B, Kauffmann B, Kapanci T, Mayer B, Otto M, Rostásy K. Chen S, et al. Among authors: stuve b. Eur J Paediatr Neurol. 2024 Apr 16;50:51-56. doi: 10.1016/j.ejpn.2024.04.005. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38636242
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH. Wang H, et al. Among authors: stuve b. Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249. Brain. 2017. PMID: 29088354 Free PMC article.
13 results