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Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.
Reumers SFI, Braun F, Spillane JE, Böhm J, Pennings M, Schouten M, van der Kooi AJ, Foley AR, Bönnemann CG, Kamsteeg EJ, Erasmus CE, Schara-Schmidt U, Jungbluth H, Voermans NC. Reumers SFI, et al. Among authors: braun f. Neurology. 2021 Aug 3;97(5):e501-e512. doi: 10.1212/WNL.0000000000012236. Epub 2021 May 19. Neurology. 2021. PMID: 34011573 Free PMC article.
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group. Chiriboga CA, et al. Neurol Ther. 2023 Apr;12(2):543-557. doi: 10.1007/s40120-023-00444-1. Epub 2023 Feb 13. Neurol Ther. 2023. PMID: 36780114 Free PMC article.
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group. Chiriboga CA, et al. Neurol Ther. 2023 Oct;12(5):1799-1801. doi: 10.1007/s40120-023-00503-7. Neurol Ther. 2023. PMID: 37395990 Free PMC article. No abstract available.
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
Diquigiovanni C, Rizzardi N, Kampmeier A, Liparulo I, Bianco F, De Nicolo B, Cataldi-Stagetti E, Cuna E, Severi G, Seri M, Bertrand M, Haack TB, Marina AD, Braun F, Fato R, Kuechler A, Bergamini C, Bonora E. Diquigiovanni C, et al. Among authors: braun f. Open Biol. 2023 Jul;13(7):230040. doi: 10.1098/rsob.230040. Epub 2023 Jul 12. Open Biol. 2023. PMID: 37433330 Free PMC article.
[Forms of mental deficiency].
BRAUN F. BRAUN F. Heilpadagog Werkbl. 1950 May-Jun;19(3):135-46. Heilpadagog Werkbl. 1950. PMID: 15421594 Undetermined Language. No abstract available.
563 results