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Items: 4

1.

Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy.

Poulsen NS, Madsen KL, Hornsyld TM, Eisum AV, Fornander F, Buch AE, Stemmerik MG, Ruiz-Ruiz C, Krag TO, Vissing J.

Mitochondrion. 2019 Oct 26;50:35-41. doi: 10.1016/j.mito.2019.10.005. [Epub ahead of print]

PMID:
31669236
2.

Fat oxidation is impaired during exercise in lipin-1 deficiency.

Raaschou-Pedersen D, Madsen KL, Stemmerik MG, Eisum AV, Straub V, Vissing J.

Neurology. 2019 Oct 8;93(15):e1433-e1438. doi: 10.1212/WNL.0000000000008240. Epub 2019 Sep 6.

PMID:
31492716
3.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
4.

Expanding the phenotype of filamin-C-related myofibrillar myopathy.

Borch JS, Eisum AV, Krag T, Vissing J.

Clin Neurol Neurosurg. 2019 Jan;176:30-33. doi: 10.1016/j.clineuro.2018.11.013. Epub 2018 Nov 19.

PMID:
30496909

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