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Items: 1 to 20 of 39

1.

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

Murphy AP, Morrow J, Dahlqvist JR, Stojkovic T, Willis TA, Sinclair CDJ, Wastling S, Yousry T, Hanna MS, James MK, Mayhew A, Eagle M, Lee LE, Hogrel JY, Carlier PG, Thornton JS, Vissing J, Hollingsworth KG, Straub V.

Ann Clin Transl Neurol. 2019 May 16;6(6):1033-1045. doi: 10.1002/acn3.774. eCollection 2019 Jun. Erratum in: Ann Clin Transl Neurol. 2019 Jul;6(7):1358.

2.

Sinus node dysfunction in patients with Fontan circulation: could heart rate variability be a predictor for pacemaker implantation?

Dahlqvist JA, Wiklund U, Karlsson M, Hanséus K, Strömvall-Larsson E, Nygren A, Eliasson H, Rydberg A.

Pediatr Cardiol. 2019 Apr;40(4):685-693. doi: 10.1007/s00246-019-02092-5. Epub 2019 Mar 27. Review.

3.

Muscle contractility in spinobulbar muscular atrophy.

Dahlqvist JR, Oestergaard ST, Poulsen NS, Knak KL, Thomsen C, Vissing J.

Sci Rep. 2019 Mar 18;9(1):4680. doi: 10.1038/s41598-019-41240-y.

4.

Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy.

Dahlqvist JR, Andersen G, Khawajazada T, Vissing C, Thomsen C, Vissing J.

J Neurol. 2019 May;266(5):1127-1135. doi: 10.1007/s00415-019-09242-y. Epub 2019 Feb 18.

PMID:
30778707
5.

Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments.

Dahlqvist JR, Oestergaard ST, Poulsen NS, Thomsen C, Vissing J.

Neurology. 2019 Feb 5;92(6):e548-e559. doi: 10.1212/WNL.0000000000006887. Epub 2019 Jan 4.

PMID:
30610091
6.

A case of systemic lupus erythematosus with C1q deficiency, increased serum interferon-α levels and high serum interferogenic activity.

Bolin K, Eloranta ML, Kozyrev SV, Dahlqvist J, Nilsson B, Knight A, Rönnblom L.

Rheumatology (Oxford). 2019 May 1;58(5):918-919. doi: 10.1093/rheumatology/key419. No abstract available.

PMID:
30608615
7.

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

Farias FHG, Dahlqvist J, Kozyrev SV, Leonard D, Wilbe M, Abramov SN, Alexsson A, Pielberg GR, Hansson-Hamlin H, Andersson G, Tandre K, Bengtsson AA, Sjöwall C, Svenungsson E, Gunnarsson I, Rantapää-Dahlqvist S, Syvänen AC, Sandling JK, Eloranta ML, Rönnblom L, Lindblad-Toh K.

Eur J Hum Genet. 2019 Mar;27(3):432-441. doi: 10.1038/s41431-018-0297-x. Epub 2018 Nov 20.

8.

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group.

Lancet Neurol. 2018 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15.

9.

Disease progression and outcome measures in spinobulbar muscular atrophy.

Dahlqvist JR, Fornander F, de Stricker Borch J, Oestergaard ST, Poulsen NS, Vissing J.

Ann Neurol. 2018 Nov;84(5):754-765. doi: 10.1002/ana.25345. Epub 2018 Oct 25.

PMID:
30255951
10.

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
11.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.

Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29.

PMID:
29635721
12.

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
13.

Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.

Leonard D, Svenungsson E, Dahlqvist J, Alexsson A, Ärlestig L, Taylor KE, Sandling JK, Bengtsson C, Frodlund M, Jönsen A, Eketjäll S, Jensen-Urstad K, Gunnarsson I, Sjöwall C, Bengtsson AA, Eloranta ML, Syvänen AC, Rantapää-Dahlqvist S, Criswell LA, Rönnblom L.

Ann Rheum Dis. 2018 Jul;77(7):1063-1069. doi: 10.1136/annrheumdis-2017-212614. Epub 2018 Mar 7.

14.

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.

Witting N, Krag T, Werlauff U, Duno M, Oestergaard ST, Dahlqvist JR, Vissing J.

Muscle Nerve. 2018 Jun;57(6):1026-1030. doi: 10.1002/mus.26067. Epub 2018 Feb 5.

PMID:
29342313
15.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

16.

Long-term follow-up in primary Sjögren's syndrome reveals differences in clinical presentation between female and male patients.

Ramírez Sepúlveda JI, Kvarnström M, Eriksson P, Mandl T, Norheim KB, Johnsen SJ, Hammenfors D, Jonsson MV, Skarstein K, Brun JG; DISSECT consortium, Rönnblom L, Forsblad-d'Elia H, Magnusson Bucher S, Baecklund E, Theander E, Omdal R, Jonsson R, Nordmark G, Wahren-Herlenius M.

Biol Sex Differ. 2017 Aug 8;8(1):25. doi: 10.1186/s13293-017-0146-6.

17.

MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients.

Andersen G, Dahlqvist JR, Vissing CR, Heje K, Thomsen C, Vissing J.

J Neurol. 2017 Mar;264(3):438-447. doi: 10.1007/s00415-016-8361-3. Epub 2016 Dec 20.

PMID:
28000006
18.

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
19.

Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.

Eriksson D, Bianchi M, Landegren N, Nordin J, Dalin F, Mathioudaki A, Eriksson GN, Hultin-Rosenberg L, Dahlqvist J, Zetterqvist H, Karlsson Å, Hallgren Å, Farias FH, Murén E, Ahlgren KM, Lobell A, Andersson G, Tandre K, Dahlqvist SR, Söderkvist P, Rönnblom L, Hulting AL, Wahlberg J, Ekwall O, Dahlqvist P, Meadows JR, Bensing S, Lindblad-Toh K, Kämpe O, Pielberg GR.

J Intern Med. 2016 Dec;280(6):595-608. doi: 10.1111/joim.12569. Epub 2016 Nov 2.

20.

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Oestergaard ST, Stojkovic T, Dahlqvist JR, Bouchet-Seraphin C, Nectoux J, Leturcq F, Cossée M, Solé G, Thomsen C, Krag TO, Vissing J.

Neurol Genet. 2016 Oct 11;2(6):e112. eCollection 2016 Dec.

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