Publications by authors named "Mar Tulinius"

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Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.
Eva Michael, Carola Hedberg-Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors

Ann Neurol· October 2025

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A population-based study of severe, less common comorbidities in Duchenne muscular dystrophy.
Lisa Wahlgren, Sara Nordström, Már Tulinius, Anna-Karin Kroksmark, Kalliopi Sofou

J Neurol· August 2025

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Concordance between parental and self-rated and performance-based measures of executive functioning in boys with Duchenne muscular dystrophy: the role of parental life satisfaction and carrier versus non-carrier status.
Jonas Gillenstrand, Malin Broberg, Anna-Karin Kroksmark, Mar Tulinius, Anne-Berit Ekström

Child Neuropsychol· July 2025

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Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint.
Laurent Servais, Paul Strijbos, Margaux Poleur, Andrada Mirea, Nina Butoianu, Már Tulinius

Sci Rep· November 2024

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Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death.
Lisa Wahlgren, Anna-Karin Kroksmark, Anders Lindblad, Mar Tulinius, Kalliopi Sofou

J Neurol· July 2024

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Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Mar Tulinius

Neurology· March 2024

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Low bone mineral density and reduced bone-specific alkaline phosphatase in 5q spinal muscular atrophy type 2 and type 3: A 2-year prospective study of bone health.
Anna-Karin Kroksmark, Lars Alberg, Mar Tulinius, Per Magnusson, Ann-Charlott Söderpalm

Acta Paediatr· December 2023

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Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.
Eugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Már Tulinius

J Neurol· September 2023

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Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy.
Jonas Gillenstrand, Anne-Berit Ekström, Anna-Karin Kroksmark, Mar Tulinius, Malin Broberg

Child Neuropsychol· August 2023

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Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.
Eugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Már Tulinius

J Neurol· August 2023

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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Mar Tulinius

J Med Genet· January 2023

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Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Mar Tulinius

JAMA Neurol· October 2022

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Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.
Erik Landfeldt, Rongrong Zhang, Anne-Marie Childs, Jessika Johannsen, Declan O'Rourke, Mar Tulinius

J Med Econ· June 2022

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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Már Tulinius

Kidney Dis (Basel)· March 2022

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Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
Craig M McDonald, Francesco Muntoni, Vinay Penematsa, Joel Jiang, Allan Kristensen, Már Tulinius

J Comp Eff Res· February 2022

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One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure.
Lisa Wahlgren, Anna-Karin Kroksmark, Mar Tulinius, Kalliopi Sofou

Eur J Epidemiol· February 2022

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Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.
Jean K Mah, Paula R Clemens, Michela Guglieri, Edward C Smith, Richard S Finkel, Mar Tulinius

JAMA Netw Open· January 2022

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A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.
Richard S Finkel, Craig M McDonald, H Lee Sweeney, Erika Finanger, Erin Neil Knierbein, Mar Tulinius

J Neuromuscul Dis· November 2021

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Long term treatment with ataluren-the Swedish experience.
Eva Michael, Kalliopi Sofou, Lisa Wahlgren, Anna-Karin Kroksmark, Már Tulinius

BMC Musculoskelet Disord· September 2021

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Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
Jenni M Lehtonen, Mari Auranen, Niklas Darin, Kalliopi Sofou, Laurence Bindoff, Már Tulinius

J Inherit Metab Dis· March 2021

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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Denisa Hathazi, Helen Griffin, Matthew J Jennings, Michele Giunta, Christopher Powell, Mar Tulinius

EMBO J· December 2020

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Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.
Christopher R Heier, Aiping Zhang, Nhu Y Nguyen, Christopher B Tully, Aswini Panigrahi, Mar Tulinius

J Pers Med· November 2020

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Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
Craig Campbell, Richard J Barohn, Enrico Bertini, Brigitte Chabrol, Giacomo Pietro Comi, Már Tulinius

J Comp Eff Res· October 2020

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Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.
Edward C Smith, Laurie S Conklin, Eric P Hoffman, Paula R Clemens, Jean K Mah, Mar Tulinius

PLoS Med· September 2020

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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.
Eugenio Mercuri, Francesco Muntoni, Andrés Nascimento Osorio, Már Tulinius, Filippo Buccella

J Comp Eff Res· April 2020

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