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Items: 1 to 20 of 89

1.

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.

Roos S, Sofou K, Hedberg-Oldfors C, Kollberg G, Lindgren U, Thomsen C, Tulinius M, Oldfors A.

Eur J Hum Genet. 2019 Feb;27(2):331-335. doi: 10.1038/s41431-018-0286-0. Epub 2018 Oct 12.

PMID:
30315213
2.

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.

Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward LM, Ahmet A, Cornish MR, Clemens PR.

Pharmacol Res. 2018 Oct;136:140-150. doi: 10.1016/j.phrs.2018.09.007. Epub 2018 Sep 13.

3.

A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.

Landfeldt E, Sejersen T, Tulinius M.

Acta Paediatr. 2019 Feb;108(2):224-230. doi: 10.1111/apa.14568. Epub 2018 Oct 2. Review.

PMID:
30188594
4.

Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients.

Sofou K, Shahim P, Tulinius M, Blennow K, Zetterberg H, Mattsson N, Darin N.

Mitochondrion. 2018 Jul 9. pii: S1567-7249(18)30022-9. doi: 10.1016/j.mito.2018.07.002. [Epub ahead of print]

PMID:
30004022
5.

A multinational study on motor function in early-onset FSHD.

Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, de Valle K, Carty CL, Morgenroth LP, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith E, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Cnaan A, Chen YW; Cooperative International Neuromuscular Research Group (CINRG) Investigators.

Neurology. 2018 Apr 10;90(15):e1333-e1338. doi: 10.1212/WNL.0000000000005297. Epub 2018 Mar 14.

PMID:
29540582
6.

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.

7.

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, de Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmüller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, de Kimpe S, Aartsma-Rus A, 't Hoen PAC, Spitali P.

Sci Rep. 2017 Dec 20;7(1):17888. doi: 10.1038/s41598-017-17982-y.

8.

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lönnqvist T, Bindoff LA, Tulinius M, Darin N.

J Med Genet. 2018 Jan;55(1):21-27. doi: 10.1136/jmedgenet-2017-104891. Epub 2017 Nov 3.

PMID:
29101127
9.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

10.

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group.

Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17.

PMID:
28728956
11.

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.

Hedberg-Oldfors C, Visuttijai K, Topa A, Tulinius M, Oldfors A.

Neuromuscul Disord. 2017 Sep;27(9):843-847. doi: 10.1016/j.nmd.2017.05.004. Epub 2017 May 10.

PMID:
28622964
12.

Comparison of ambulatory capacity and disease progression of Duchenne muscular dystrophy subjects enrolled in the drisapersen DMD114673 study with a matched natural history cohort of subjects on daily corticosteroids.

Goemans N, Tulinius M, Kroksmark AK, Wilson R, van den Hauwe M, Campion G.

Neuromuscul Disord. 2017 Mar;27(3):203-213. doi: 10.1016/j.nmd.2016.11.013. Epub 2016 Nov 25.

13.

Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study.

Goemans NM, Tulinius M, van den Hauwe M, Kroksmark AK, Buyse G, Wilson RJ, van Deutekom JC, de Kimpe SJ, Lourbakos A, Campion G.

PLoS One. 2016 Sep 2;11(9):e0161955. doi: 10.1371/journal.pone.0161955. eCollection 2016.

14.

Ophthalmologic involvement in Leigh syndrome.

Andersson Grönlund M, Andersson S, Åkebrand R, Seyedi Honarvar AK, Sofou K, Darin N, Tulinius M.

Acta Ophthalmol. 2017 Feb;95(1):e76. doi: 10.1111/aos.13124. Epub 2016 May 28. No abstract available.

15.

Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up.

Åkebrand R, Andersson S, Seyedi Honarvar AK, Sofou K, Darin N, Tulinius M, Grönlund MA.

Acta Ophthalmol. 2016 Sep;94(6):609-17. doi: 10.1111/aos.12983. Epub 2016 Feb 19.

16.

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Topa A, Tulinius M, Oldfors A, Hedberg-Oldfors C.

Am J Med Genet A. 2016 May;170A(5):1155-64. doi: 10.1002/ajmg.a.37593. Epub 2016 Feb 11.

PMID:
26866830
17.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.

J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.

PMID:
26475597
18.

Bengt Hagberg.

Gillberg C, Gillberg C, Rasmussen P, Kyllerman M, Fernell E, Olsson I, Uvebrant P, Westerberg B, Tulinius M, Himmelmann K, Bax M, Neville B.

Acta Paediatr. 2015 Oct;104(10):1064. doi: 10.1111/apa.13064. No abstract available.

PMID:
26378636
19.

Early onset cardiomyopathy in females with Danon disease.

Hedberg Oldfors C, Máthé G, Thomson K, Tulinius M, Karason K, Östman-Smith I, Oldfors A.

Neuromuscul Disord. 2015 Jun;25(6):493-501. doi: 10.1016/j.nmd.2015.03.005. Epub 2015 Mar 16.

PMID:
25900304
20.

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H.

Front Genet. 2015 Feb 6;6:21. doi: 10.3389/fgene.2015.00021. eCollection 2015.

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