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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L. Iruzubieta P, et al. Among authors: walter mc. Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print. Brain. 2024. PMID: 38366623
Nuclear Small Dystrophin Isoforms during Muscle Differentiation.
Donandt T, Todorow V, Hintze S, Graupner A, Schoser B, Walter MC, Meinke P. Donandt T, et al. Among authors: walter mc. Life (Basel). 2023 Jun 11;13(6):1367. doi: 10.3390/life13061367. Life (Basel). 2023. PMID: 37374149 Free PMC article.
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, Roy B. Armengol VD, et al. Among authors: walter mc. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52.
Stirm M, Shashikadze B, Blutke A, Kemter E, Lange A, Stöckl JB, Jaudas F, Laane L, Kurome M, Keßler B, Zakhartchenko V, Bähr A, Klymiuk N, Nagashima H, Walter MC, Wurst W, Kupatt C, Fröhlich T, Wolf E. Stirm M, et al. Among authors: walter mc. Proc Natl Acad Sci U S A. 2023 Jul 18;120(29):e2301250120. doi: 10.1073/pnas.2301250120. Epub 2023 Jul 10. Proc Natl Acad Sci U S A. 2023. PMID: 37428903 Free PMC article.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A. Kleinle S, et al. Among authors: walter mc. J Neuromuscul Dis. 2023;10(5):835-846. doi: 10.3233/JND-221668. J Neuromuscul Dis. 2023. PMID: 37424474 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: walter mc. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
221 results