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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Distelmaier F, Sezer A, Helm C, Waldmüller S, Seibt A, Gangfuß A, Kölbel H, Schara-Schmidt U, Yuksel D, Talim B, Mayatepek E, Nikolin S, Weis J, Roos A, Haack TB. Distelmaier F, et al. Among authors: weis j. Brain. 2024 Apr 18:awae099. doi: 10.1093/brain/awae099. Online ahead of print. Brain. 2024. PMID: 38637313 No abstract available.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: weis j. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB. Deschauer M, et al. Among authors: weis j. Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418. Brain. 2021. PMID: 33459760
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J. Bremer J, et al. Among authors: weis j. Brain Pathol. 2024 Jan;34(1):e13200. doi: 10.1111/bpa.13200. Epub 2023 Aug 15. Brain Pathol. 2024. PMID: 37581289 Free PMC article.
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Della Marina A, Hentschel A, Czech A, Schara-Schmidt U, Preusse C, Laner A, Abicht A, Ruck T, Weis J, Choueiri C, Lochmüller H, Kölbel H, Roos A. Della Marina A, et al. Among authors: weis j. J Neuromuscul Dis. 2024;11(3):625-645. doi: 10.3233/JND-230230. J Neuromuscul Dis. 2024. PMID: 38578900 Free PMC article. Review.
Characteristic clinical and ultrastructural findings in nesprinopathies.
Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U. Kölbel H, et al. Among authors: weis j. Eur J Paediatr Neurol. 2019 Mar;23(2):254-261. doi: 10.1016/j.ejpn.2018.12.011. Epub 2018 Dec 29. Eur J Paediatr Neurol. 2019. PMID: 30626539
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: weis j. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.
1,270 results