Mar Tulinius

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

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

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

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

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

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
Kalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess et al.
Journal of medical genetics, Artikel i vetenskaplig tidskrift 2018
Artikel i vetenskaplig tidskrift

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.
A Lourbakos, N Yau, P de Bruijn, M Hiller, K Kozaczynska et al.
Scientific reports, Artikel i vetenskaplig tidskrift 2017
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

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

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

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 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)

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis
Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Mar Tulinius
Neurology, Artikel i vetenskaplig tidskrift 2006
Artikel i vetenskaplig tidskrift

A novel missense mutation in TPM2 associated with muscle weakness and distal arthrogryposis
Homa Tajsharghi, Eva Kimber, Mar Tulinius, Anders Oldfors
Neuromusc Disord, Paper i proceeding 2006
Paper i proceeding

A mutation in the fast skeletal muscle Troponin I gene causes myopathy and distal arthrogryposis
Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Mar Tulinius
Neuromusc Disord, Paper i proceeding 2006
Paper i proceeding