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Items: 10

1.

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.

Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.

PMID:
31610034
2.

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.

J Neurol. 2019 Sep 25. doi: 10.1007/s00415-019-09539-y. [Epub ahead of print]

PMID:
31555977
3.

Muscle contractility of leg muscles in patients with mitochondrial myopathies.

Poulsen NS, Dahlqvist JR, Hedermann G, Løkken N, Vissing J.

Mitochondrion. 2019 May;46:221-227. doi: 10.1016/j.mito.2018.07.001. Epub 2018 Jul 11.

PMID:
30017555
4.

Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA.

Hedermann G, Dahlqvist JR, Løkken N, Vissing CR, Knak KL, Andersen LK, Thomsen C, Vissing J.

Neuromuscul Disord. 2018 May;28(5):408-413. doi: 10.1016/j.nmd.2018.02.008. Epub 2018 Feb 21.

PMID:
29567350
5.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
6.

Aerobic training in myotonia congenita: Effect on myotonia and fitness.

Andersen G, Løkken N, Vissing J.

Muscle Nerve. 2017 Oct;56(4):696-699. doi: 10.1002/mus.25549. Epub 2017 Mar 23.

PMID:
28039888
7.

Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA.

Hedermann G, Løkken N, Dahlqvist JR, Vissing J.

Mitochondrion. 2017 Jan;32:27-30. doi: 10.1016/j.mito.2016.11.007. Epub 2016 Nov 14.

PMID:
27856367
8.

Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I.

Løkken N, Hedermann G, Thomsen C, Vissing J.

Ann Neurol. 2016 Sep;80(3):466-71. doi: 10.1002/ana.24743. Epub 2016 Aug 10.

PMID:
27463532
9.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F.

Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.

10.

LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.

Løkken N, Born AP, Duno M, Vissing J.

Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.

PMID:
25663498

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