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Page 1
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D'Amico A, Van den Bergh P, Romero NB, Malfatti E, Vilchez JJ, Oldfors A, Pajusalu S, Õunap K, Giralt-Pujol M, Zanoteli E, Campbell KS, Iwamoto H, Peckham M, Ochala J. Carrington G, et al. Among authors: oldfors a. JCI Insight. 2023 Nov 8;8(21):e172322. doi: 10.1172/jci.insight.172322. JCI Insight. 2023. PMID: 37788100 Free PMC article.
New mutations identified in a case of Glycogenin-1 deficiency.
Pruvost R, Csanyi M, Lefebvre G, Biancalana V, Malfatti E, Cassim F, Oldfors C, Defebvre L, Oldfors A, Tard C. Pruvost R, et al. Among authors: oldfors a, oldfors c. Mol Genet Metab Rep. 2024 Jan 3;38:101046. doi: 10.1016/j.ymgmr.2023.101046. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38234863 Free PMC article. No abstract available.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: oldfors a. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
Histopathological Evaluation of Somatostatin Receptor 2 Expression in Myocarditis-Rationale for the Diagnostic Use of Somatostatin Receptor Imaging.
Polte CL, Visuttijai K, Vukusic K, Sandstedt J, Sandstedt M, Bobbio E, Björkenstam M, Karason K, Bergh N, Bollano E, Oldfors A. Polte CL, et al. Among authors: oldfors a. Diagnostics (Basel). 2024 Oct 24;14(21):2374. doi: 10.3390/diagnostics14212374. Diagnostics (Basel). 2024. PMID: 39518342 Free PMC article.
303 results