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405 results
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Fat oxidation is impaired during exercise in lipin-1 deficiency.
Raaschou-Pedersen D, Madsen KL, Stemmerik MG, Eisum AV, Straub V, Vissing J. Raaschou-Pedersen D, et al. Among authors: straub v. Neurology. 2019 Oct 8;93(15):e1433-e1438. doi: 10.1212/WNL.0000000000008240. Epub 2019 Sep 6. Neurology. 2019. PMID: 31492716
Performance of Upper Limb module for Duchenne muscular dystrophy.
Mayhew AG, Coratti G, Mazzone ES, Klingels K, James M, Pane M, Straub V, Goemans N, Mercuri E; Pul Working Group. Mayhew AG, et al. Among authors: straub v. Dev Med Child Neurol. 2020 May;62(5):633-639. doi: 10.1111/dmcn.14361. Epub 2019 Sep 19. Dev Med Child Neurol. 2020. PMID: 31538331
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY. Barp A, et al. Among authors: straub v. J Neurol. 2020 Jan;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25. J Neurol. 2020. PMID: 31555977
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V. Vissing J, et al. Among authors: straub v. Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28. Ann Neurol. 2019. PMID: 31610034
MYO-MRI diagnostic protocols in genetic myopathies.
Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group. Warman Chardon J, et al. Among authors: straub v. Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16. Neuromuscul Disord. 2019. PMID: 31727541 Review.
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke P, Kerr ARW, Czapiewski R, de Las Heras JI, Dixon CR, Harris E, Kölbel H, Muntoni F, Schara U, Straub V, Schoser B, Wehnert M, Schirmer EC. Meinke P, et al. Among authors: straub v. EBioMedicine. 2020 Jan;51:102587. doi: 10.1016/j.ebiom.2019.11.048. Epub 2019 Dec 17. EBioMedicine. 2020. PMID: 31862442 Free PMC article.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Töpf A, Rubegni A, Kuhn M, Giugliano T, Gläser D, Fattori F, Thompson R, Penttilä S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmüller H, Santorelli FM, Schoser B, Fajkusová L, Straub V, Nigro V, Hackman P, Udd B. Savarese M, et al. Among authors: straub v. J Neuromuscul Dis. 2020;7(2):153-166. doi: 10.3233/JND-190423. J Neuromuscul Dis. 2020. PMID: 32039858
405 results