Mar Tulinius

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
E. Mercuri, F. Muntoni, A. N. Osorio, M. Tulinius, F. Buccella et al.
Journal of Comparative Effectiveness Research, Artikel i vetenskaplig tidskrift 2020
Artikel i vetenskaplig tidskrift

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile
Sara Roos, Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Ulrika Lindgren et al.
European Journal of Human Genetics, Artikel i vetenskaplig tidskrift 2019
Artikel i vetenskaplig tidskrift

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency
Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Christer Thomsen, Åsa Wiksell et al.
Mitochondrion, Artikel i vetenskaplig tidskrift 2019
Artikel i vetenskaplig tidskrift

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry
F. Muntoni, I. Desguerre, M. Guglieri, A. N. Osorio, J. Kirschner et al.
Journal of Comparative Effectiveness Research, Artikel i vetenskaplig tidskrift 2019
Artikel i vetenskaplig tidskrift

Quality of life of patients with spinal muscular atrophy: A systematic review
E. Landfeldt, J. Edström, T. Sejersen, Mar Tulinius, H. Lochmüller et al.
European Journal of Paediatric Neurology, Forskningsöversiktsartikel 2019
Forskningsöversiktsartikel

NFL is a marker of treatment response in children with SMA treated with nusinersen
Bob Olsson, L. Alberg, Nicholas C Cullen, Eva Michael, Lisa Wahlgren et al.
Journal of Neurology, Artikel i vetenskaplig tidskrift 2019
Artikel i vetenskaplig tidskrift

Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients.
Kalliopi Sofou, Pashtun Shahim, Mar Tulinius, Kaj Blennow, Henrik Zetterberg et al.
Mitochondrion, Artikel i vetenskaplig tidskrift 2019
Artikel i vetenskaplig tidskrift

A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy
E. Landfeldt, T. Sejersen, Mar Tulinius
Acta Paediatrica, Artikel i vetenskaplig tidskrift 2019
Artikel i vetenskaplig tidskrift

A multinational study on motor function in early-onset FSHD.
Jean K Mah, Jia Feng, Marni B Jacobs, Tina Duong, Kate Carroll et al.
Neurology, Artikel i vetenskaplig tidskrift 2018
Artikel i vetenskaplig tidskrift

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
E. Mercuri, B. T. Darras, C. A. Chiriboga, J. W. Day, C. Campbell et al.
New England Journal of Medicine, Artikel i vetenskaplig tidskrift 2018
Artikel i vetenskaplig tidskrift

Ophthalmologic findings in children and young adults with mitochondrial encephalomyopathies with known DNA mutation
Marita Andersson Grönlund, Antovan Seyedi Honarvar , E. Rudholm, Niklas Darin, Mar Tulinius et al.
ARVO, Fort Lauderdale, USA, 6-10 maj 2007. Poster., Poster (konferens) 2007
Poster (konferens)

Ophthalmologic findings in 40 patients with mitochondrial diseases with known DNA mutation
Marita Andersson Grönlund, Antovan Seyedi Honarvar , E. Rudholm, Niklas Darin, Mar Tulinius et al.
American Association of Pediatric Ophthalmology and Strabismus (AAPOS), Seattle, Washington, USA, 11-15 april 2007. Poster., Poster (konferens) 2007
Poster (konferens)

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres
Julien Ochala, Mingxin Li, Homa Tajsharghi, Eva Kimber, Mar Tulinius et al.
J Physiol, Artikel i vetenskaplig tidskrift 2007
Artikel i vetenskaplig tidskrift

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
Gittan Kollberg, Mar Tulinius, Thomas Gilljam, Ingegerd Östman-Smith, Gun Forsander et al.
The New England journal of medicine, Artikel i vetenskaplig tidskrift 2007
Artikel i vetenskaplig tidskrift

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I
Niklas Darin, Anna-Karin Kroksmark, Anne-Christine Åhlander, Ali-Reza Moslemi, Anders Oldfors et al.
Eur J Paediatr Neurol, Artikel i vetenskaplig tidskrift 2007
Artikel i vetenskaplig tidskrift

Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy
Ann-Charlott Söderpalm, P. Magnusson, Anne-Christine Åhlander, Jón Karlsson, Anna-Karin Kroksmark et al.
Neuromuscul Disord, Artikel i vetenskaplig tidskrift 2007
Artikel i vetenskaplig tidskrift

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
Homa Tajsharghi, Eva Kimber, Daniel Holmgren, Mar Tulinius, Anders Oldfors
Neurology, Artikel i vetenskaplig tidskrift 2007
Artikel i vetenskaplig tidskrift

Orofacial dysfunction in children and adolescents with myotonic dystrophy.
Lotta Sjögreen, Monica Engvall, Anne-Berit Ekström, Anette Lohmander, Stavros Kiliaridis et al.
Developmental medicine and child neurology, Artikel i vetenskaplig tidskrift 2007
Artikel i vetenskaplig tidskrift

Mitochondrial encephalomyopathies
Anders Oldfors, Mar Tulinius
Handbook of Clinical Neurology, Kapitel i bok 2007
Kapitel i bok

Mitochondrial myopathy with retinal dystrophy and exercise intolerance in a sporadic patient with a G583A mutation in the mt tRNA phe gene
Marita Andersson Grönlund, Susann Andersson, Ali-Reza Moslemi, Mar Tulinius, E. Holme et al.
The European Pediatric Ophthalmology Society (EPOS), Viamora, Portugal, 6-7 okt 2006. Poster., Poster (konferens) 2006
Poster (konferens)