Mar Tulinius
-
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 Neuropsychology - 2023 -
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
European Journal of Epidemiology - 2022 -
Clinical course of patients with single large-scale mtDNA deletions and childhood onset
anemia
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Irenaeus de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Karin Naess, Johanna Uusimaa, Laurence A Bindoff, Mar Tulinius, Niklas Darin
14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9) - 2022 -
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel
study
E. Landfeldt, R. R. Zhang, A. M. Childs, J. Johannsen, D. O'Rourke, T. Sejersen, J. Strautmanis, U. Schara-Schmidt, Mar Tulinius, M. C. Walter, T. Willis, K. Buesch
Journal of Medical Economics - 2022 -
Renal Phenotype in Mitochondrial Diseases: A Multicenter
Study
M. Parasyri, Per Brandström, J. Uusimaa, E. Ostergaard, O. Hikmat, P. Isohanni, K. Naess, I. F. M. de Coo, A. N. Osorio, M. Nuutinen, C. Lindberg, L. A. Bindoff, Mar Tulinius, Niklas Darin, Kalliopi Sofou
Kidney Diseases - 2022 -
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy
patients
C. M. McDonald, F. Muntoni, V. Penematsa, J. Jiang, A. Kristensen, F. Bibbiani, E. Goodwin, H. Gordish-Dressman, L. Morgenroth, C. Werner, J. Li, R. Able, P. Trifillis, Mar Tulinius
Journal of Comparative Effectiveness Research - 2022 -
Long term treatment with ataluren-the Swedish
experience
Eva Michael, Kalliopi Sofou, Lisa Wahlgren, Anna-Karin Kroksmark, Mar Tulinius
Bmc Musculoskeletal Disorders - 2021 -
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, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin
Journal of Medical Genetics - 2021 -
Diagnostic value of serum biomarkersFGF21andGDF15compared to muscle sample in mitochondrial
disease
J. M. Lehtonen, M. Auranen, Niklas Darin, Kalliopi Sofou, L. Bindoff, O. Hikmat, J. Uusimaa, P. Vieira, Mar Tulinius, T. Lonnqvist, I. F. de Coo, A. Suomalainen, P. Isohanni
Journal of Inherited Metabolic Disease - 2021 -
Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral
Dystrophy
C. R. Heier, A. P. Zhang, N. Y. Nguyen, C. B. Tully, A. Panigrahi, H. Gordish-Dressman, S. N. Pandey, M. Guglieri, M. M. Ryan, P. R. Clemens, M. Thangarajh, R. Webster, E. C. Smith, A. M. Connolly, C. M. McDonald, P. Karachunski, Mar Tulinius, A. Harper, J. K. Mah, A. A. Fiorillo, Y. W. Chen
Journal of Personalized Medicine - 2020 -
Metabolic shift underlies recovery in reversible infantile respiratory chain
deficiency
D. Hathazi, H. Griffin, M. J. Jennings, M. Giunta, C. Powell, S. F. Pearce, B. Munro, W. Wei, V. Boczonadi, J. Poulton, A. Pyle, C. Calabrese, A. Gomez-Duran, U. Schara, R. D. Pitceathly, M. G. Hanna, K. Joost, A. Cotta, J. F. Paim, M. M. Navarro, J. Duff, A. Mattmann, K. Chapman, S. Servidei, A. Della Marina, J. Uusimaa, A. Roos, V. Mootha, M. Hirano, Mar Tulinius, M. Giri, E. P. Hoffmann, H. Lochmuller, S. DiMauro, M. Minczuk, P. F. Chinnery, J. S. Muller, R. Horvath
Embo Journal - 2020 -
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular
dystrophy
C. Campbell, R. J. Barohn, E. Bertini, B. Chabrol, G. P. Comi, B. T. Darras, R. S. Finkel, K. M. Flanigan, N. Goemans, S. T. Iannaccone, K. J. Jones, J. Kirschner, J. K. Mah, K. D. Mathews, C. M. McDonald, E. Mercuri, Y. Nevo, Y. Pereon, J. Ben Renfroe, M. M. Ryan, J. B. Sampson, U. Schara, T. Sejersen, K. Selby, Mar Tulinius, J. J. Vilchez, T. Voit, L. J. Wei, B. L. Wong, G. Elfring, M. Souza, J. McIntosh, P. Trifillis, S. W. Peltz, F. Muntoni, P. TC124-GD-007-Study Grp P. TC124-GD-007-Study Grp, Act Dmd Study Grp Act Dmd Study Grp, Grp Clinical Evaluator Training
Journal of Comparative Effectiveness Research - 2020 -
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, L. P. Morgenroth, H. Gordish-Dressman, J. Jiang, P. Trifillis, L. Zhu, A. Kristensen, C. L. Santos, E. K. Henricson, C. M. McDonald, I. Desguerre, G. Bernert, M. Gosk-Tomek, A. Ille, A. Kellersmann, S. Weiss, V. Pilshofer, Z. Balintova, P. Danhofer, P. Fabulova, L. Jurikova, P. Fuchsova, J. Haberlova, F. Laffargue, C. Sarret, B. Pontier, R. Bellance, E. Sarrazin, P. Sabouraud, A. Magot, S. Mercier, Y. Pereon, J. M. Cuisset, S. Coopman-Degryse, E. Enaud, M. L. Jacquemont, A. Perville, M. Renouil, V. Trommsdorff, D. Verheulpen, S. Fontaine-Carbonnel, C. Vuillerot, S. Peudenier, J. Ropars, F. Audic, B. Chabrol, S. Chabrier, G. Gousse, E. Lagrue, K. Aragon, C. Barnerias, L. V. Brande, S. De Lucia, I. Desguerre, T. Gidaro, A. Seferian, L. Servais, V. Laugel, C. Espil-Taris, H. Mecili, E. Raffo, S. Ragot-Mandry, S. Borrell, J. Kirschner, A. Gangfuss, M. Henrich, H. Kolbel, U. Schara, N. Sponemann, E. Temme, J. Seeger, A. Hirsch, J. Denecke, J. Johannsen, A. Neu, D. Osinski, S. Rugner, S. Schussler, R. Trollmann, A. Kaindl, J. B. Schneider, C. Stoltenburg, C. Weiss, G. Schreiber, A. Hahn, M. Grzybowski, E. Pavlidou, E. Pavlou, S. Dobner, Z. Liptai, T. Dor, C. Brogna, M. Catteruccia, A. D'Amico, E. Mercuri, M. Pane, L. Bello, E. Pegoraro, C. Semplicini, E. Albamonte, G. Baranello, G. Comi, A. Govoni, A. Lerario, F. Magri, R. Masson, E. Mauri, V. Sansone, C. Brusa, T. Mongini, F. Ricci, M. Vacchetti, C. Bruno, C. Paniucci, M. Pedemonte, M. Giannotta, A. Pini, S. Messina, M. Sframeli, G. Vita, L. Ruggiero, L. Santoro, D. Craiu, C. Motoescu, C. Sandu, R. Teleanu, D. Vasile, Mar Tulinius, I. Hughes, A. M. Childs, Z. Alhaswani, H. Roper, D. Parasuraman, C. DeGoede, V. Gowda, A. Manzur, P. Munot, A. Sarkokzy, C. Charlesworth, J. Lemon, L. Turner, S. Spinty, A. Dubrovsky, A. Kornberg, M. Ryan, R. Webster, W. D. Biggar, L. C. McAdam, J. K. Mah, H. Kolski, V. Vishwanathan, S. Chidambaranathan, Y. Nevo, K. Gorni, J. Carlo, C. M. McDonald, E. K. Henricson, R. T. Abresch, N. C. Joyce, A. Cnaan, L. P. Morgenroth, R. Leshner, C. Tesi-Rocha, M. Thangarajh, T. Duong, P. R. Clemens, H. Abdel-Hamid, A. M. Connolly, A. Pestronk, J. Teasley, A. Harper, T. E. Bertorini, N. Kuntz, S. Driscoll, J. W. Day, P. Karachunski, T. Lotze, Stride, Stride,
Journal of Comparative Effectiveness Research - 2020 -
Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease
patients.
Kalliopi Sofou, Pashtun Shahim, Mar Tulinius, Kaj Blennow, Henrik Zetterberg, Niklas Mattsson, Niklas Darin
Mitochondrion - 2019 -
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, Anna-Karin Kroksmark, K. Rostasy, Kaj Blennow, Henrik Zetterberg, Mar Tulinius
Journal of Neurology - 2019 -
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, Christer Thomsen, Mar Tulinius, Anders Oldfors
European Journal of Human Genetics - 2019 -
Prenatal onset of mitochondrial disease is associated with sideroflexin 4
deficiency
Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Christer Thomsen, Åsa Wiksell, Anders Oldfors, Mar Tulinius
Mitochondrion - 2019 -
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, Mar Tulinius, F. Buccella, G. Elfring, C. Werner, T. Schilling, P. Trifillis, O. Zhang, A. Delage, C. L. Santos, E. Mercuri
Journal of Comparative Effectiveness Research - 2019 -
Quality of life of patients with spinal muscular atrophy: A systematic
review
E. Landfeldt, J. Edström, T. Sejersen, Mar Tulinius, H. Lochmüller, J. Kirschner
European Journal of Paediatric Neurology - 2019 -
A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular
dystrophy
E. Landfeldt, T. Sejersen, Mar Tulinius
Acta Paediatrica - 2019 -
A multinational study on motor function in early-onset
FSHD.
Jean K Mah, Jia Feng, Marni B Jacobs, Tina Duong, Kate Carroll, Katy de Valle, Cara L Carty, Lauren P Morgenroth, Michela Guglieri, Monique M Ryan, Paula R Clemens, Mathula Thangarajh, Richard Webster, Edward Smith, Anne M Connolly, Craig M McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Avital Cnaan, Yi-Wen Chen
Neurology - 2018 -
Nusinersen versus Sham Control in Later-Onset Spinal Muscular
Atrophy
E. Mercuri, B. T. Darras, C. A. Chiriboga, J. W. Day, C. Campbell, A. M. Connolly, S. T. Iannaccone, J. Kirschner, N. L. Kuntz, K. Saito, P. B. Shieh, Mar Tulinius, E. S. Mazzone, J. Montes, K. M. Bishop, Q. Yang, R. Foster, S. Gheuens, C. F. Bennett, W. Farwell, E. Schneider, D. C. De Vivo, R. S. Finkel, Cherish Study Grp Cherish Study Grp
New England Journal of Medicine - 2018 -
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, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Tuula Lönnqvist, Laurence Albert Bindoff, Mar Tulinius, Niklas Darin
Journal of medical genetics - 2018 -
Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in
Duchenne.
A Lourbakos, N Yau, P de Bruijn, M Hiller, K Kozaczynska, R Jean-Baptiste, M Reza, R Wolterbeek, Z Koeks, B Ayoglu, D de Klerk, G Campion, I Zaharieva, V D Nadarajah, P Nilsson, C Al-Khalili Szigyarto, F Muntoni, H Lochmüller, J J Verschuuren, N Goemans, Mar Tulinius, E H Niks, S de Kimpe, A Aartsma-Rus, Peter A C 't Hoen, P Spitali
Scientific reports - 2017 -
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular
Atrophy
R. S. Finkel, E. Mercuri, B. T. Darras, A. M. Connolly, N. L. Kuntz, J. Kirschner, C. A. Chiriboga, K. Saito, L. Servais, E. Tizzano, H. Topaloglu, Mar Tulinius, J. Montes, A. M. Glanzman, K. Bishop, Z. J. Zhong, S. Gheuens, C. F. Bennett, E. Schneider, W. Farwell, D. C. De Vivo, Endear Study Grp Endear Study Grp
New England Journal of Medicine - 2017 -
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic
male.
Carola Oldfors Hedberg, Kittichate Visuttijai, Mar Tulinius, Anders Oldfors
Neuromuscular disorders : NMD - 2017 -
Ophthalmological characteristics in children with Leigh syndrome - A long-term
follow-up.
Rebecka Åkebrand, Susann Andersson, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Acta ophthalmologica - 2016 -
Ophthalmologic involvement in Leigh
syndrome.
Marita Andersson Grönlund, Susann Andersson, Rebecka Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius
Acta Ophthalmologica - 2016 -
Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension
Study
N. M. Goemans, Mar Tulinius, M. van den Hauwe, Anna-Karin Kroksmark, G. Buyse, R. J. Wilson, J. C. van Deutekom, S. J. de Kimpe, A. Lourbakos, G. Campion
Plos One - 2016 -
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal
presentation.
Alexandra Topa, Mar Tulinius, Anders Oldfors, Carola Oldfors Hedberg
American journal of medical genetics. Part A - 2016 -
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71
patients.
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino, Marzia Bianchi, Daniela Buhas, Samir Mesli, Karin Naess, Alfred Peter Born, Berit Woldseth, Paolo Prontera, Mustafa Batbayli, Kirstine Ravn, Fróði Joensen, Duccio M Cordelli, Filippo Maria Santorelli, Mar Tulinius, Niklas Darin, Morten Duno, Philippe Jouvencel, Alberto Burlina, Gabriela Stangoni, Enrico Bertini, Isabelle Redonnet-Vernhet, Flemming Wibrand, Carlo Dionisi-Vici, Johanna Uusimaa, Paivi Vieira, Andrés Nascimento Osorio, Robert McFarland, Robert W Taylor, Elisabeth Holme, Elsebet Ostergaard
Journal of inherited metabolic disease - 2016 -
Ophthalmological and genetic findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, Rebecka Åkebrand, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
WSPOS, Barcelona, Spanien, 2015 - 2015 -
Early onset cardiomyopathy in females with Danon
disease
Carola Oldfors Hedberg, Gyöngyvér Máthé, K. Thomson, Mar Tulinius, Kristjan Karason, Ingegerd Östman-Smith, Anders Oldfors
Neuromuscular Disorders - 2015 -
Ophthalmological and genetic findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius
WSPOS (World Society of Paediatric Ophthalmology and Strabismus), Barcelona, Spanien, 3-5 sept 2015. - 2015 -
Ophthalmological findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
NPOG, Åland, Finland, 10-12 juni 2015. Föredrag. - 2015 -
Bengt
Hagberg.
Christopher Gillberg, I Carina Gillberg, Peder Rasmussen, Mårten Kyllerman, Elisabeth Fernell, Ingrid Olsson, Paul Uvebrant, Barbro Westerberg, Mar Tulinius, Kate Himmelmann, Martin Bax, Brian Neville
Acta paediatrica (Oslo, Norway : 1992) - 2015 -
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug
development.
Emma Heslop, Cristina Csimma, Volker Straub, John McCall, Kanneboyina Nagaraju, Kathryn R Wagner, Didier Caizergues, Rudolf Korinthenberg, Kevin M Flanigan, Petra Kaufmann, Elizabeth McNeil, Jerry Mendell, Sharon Hesterlee, Dominic J Wells, Kate Bushby, Mar Tulinius
Orphanet journal of rare diseases - 2015 -
Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial
disease
V. Boczonadi, M. Giunta, M. Lane, Mar Tulinius, U. Schara, R. Horvath
International Journal of Biochemistry & Cell Biology - 2015 -
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1.
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali-Reza Moslemi, Mar Tulinius
Mitochondrion - 2015 -
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers
syndrome.
Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Marcela Davila Lopez, Niklas Darin, Claes M Gustafsson, Elisabeth Holme, Anders Oldfors, Mar Tulinius, Jorge Asin-Cayuela
Molecular genetics & genomic medicine - 2015 -
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on
aminoacylation
L. Euro, S. Konovalova, Jorge Asin-Cayuela, Mar Tulinius, H. Griffin, R. Horvath, R. W. Taylor, P. F. Chinnery, U. Schara, D. R. Thorburn, A. Suomalainen, J. Chihade, H. Tyynismaa
Frontiers in Genetics - 2015 -
Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Mar Tulinius, Ali-Reza Moslemi
Euromit 2014, 15-19 juni, Tampere, Finland - 2014 -
Ataluren treatment of patients with nonsense mutation
dystrophinopathy.
Katharine Bushby, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P Comi, Anne M Connolly, John W Day, Kevin M Flanigan, Nathalie Goemans, Kristi J Jones, Eugenio Mercuri, Ros Quinlivan, James B Renfroe, Barry Russman, Monique M Ryan, Mar Tulinius, Thomas Voit, Steven A Moore, H Lee Sweeney, Richard T Abresch, Kim L Coleman, Michelle Eagle, Julaine Florence, Eduard Gappmaier, Allan M Glanzman, Erik Henricson, Jay Barth, Gary L Elfring, Allen Reha, Robert J Spiegel, Michael W O'donnell, Stuart W Peltz, Craig M McDonald
Muscle & nerve - 2014 -
Electrophysiological, genetic, and ophthalmological findings in
children
Susann Andersson, Åkebrand R, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
ISCEV, Boston, USA, 20-24 juli 2014. Poster. - 2014 -
A multicenter study on Leigh syndrome: disease course and predictors of
survival.
Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A Bindoff, Mar Tulinius, Niklas Darin
Orphanet journal of rare diseases - 2014 -
Childhood onset tubular aggregate myopathy associated with de novo STIM1
mutations.
Carola Hedberg, Marcello Niceta, Fabiana Fattori, Björn Lindvall, Andrea Ciolfi, Adele D'Amico, Giorgio Tasca, Stefania Petrini, Mar Tulinius, Marco Tartaglia, Anders Oldfors, Enrico Bertini
Journal of neurology - 2014 -
The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome
measures
E. K. Henricson, R. T. Abresch, A. Cnaan, F. M. Hu, T. Duong, A. Arrieta, J. Han, D. M. Escolar, J. M. Florence, P. R. Clemens, E. P. Hoffman, C. M. McDonald, Mar Tulinius
Muscle & Nerve - 2013 -
Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Gittan Kollberg, Elisabeth Holme, Mar Tulinius, Anders Oldfors, Ali-Reza Moslemi
European Journal of Paediatric Neurology. 10th EPNS Congress 25-28 September 2013, Brussels, Belgium - 2013 -
Ophthalmological long-term follow-up in children and young adults with Kearns-Sayre
Syndrome
Antovan Seyedi Honarvar , Susann Andersson, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Nordic Pediatric Ophthalmology Group - NPOG, Göteborg, 15-17 sept, 2013. Poster. - 2013 -
Ophthalmological long-term follow-up in children and young adults with Kearns-Sayre
Syndrome
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Susann Andersson
ARVO, Seattle, USA, 5-9 maj 2013. Poster. - 2013 -
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter
study.
Craig M McDonald, Erik K Henricson, R Ted Abresch, Julaine Florence, Michelle Eagle, Eduard Gappmaier, Allan M Glanzman, Robert Spiegel, Jay Barth, Gary Elfring, Allen Reha, Stuart W Peltz, Mar Tulinius
Muscle & nerve - 2013 -
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter
study.
Craig M McDonald, Erik K Henricson, R Ted Abresch, Julaine M Florence, Michelle Eagle, Eduard Gappmaier, Allan M Glanzman, Robert Spiegel, Jay Barth, Gary Elfring, Allen Reha, Stuart Peltz, Mar Tulinius
Muscle & nerve - 2013 -
The cooperative international neuromuscular research group duchenne natural history studya longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods
used
C. M. McDonald, E. K. Henricson, R. T. Abresch, J. J. Han, D. M. Escolar, J. M. Florence, T. Duong, A. Arrieta, P. R. Clemens, Mar Tulinius
Muscle & Nerve - 2013 -
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain
deficiency.
Veronika Boczonadi, Paul M Smith, Angela Pyle, Aurora Gomez-Duran, Ulrike Schara, Mar Tulinius, Patrick F Chinnery, Rita Horvath
Human molecular genetics - 2013 -
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system
involvement.
Kalliopi Sofou, Karin Steneryd, Lars-Martin Wiklund, Mar Tulinius, Niklas Darin
Mitochondrion - 2013 -
Whole body vibration therapy in patients with Duchenne muscular dystrophy - A prospective observational
study.
Ann-Charlott Söderpalm, Anna-Karin Kroksmark, P Magnusson, Jón Karlsson, Mar Tulinius, Diana Swolin-Eide
Journal of musculoskeletal & neuronal interactions - 2013 -
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial
encephalomyopathy.
Sara Roos, Niklas Darin, Gittan Kollberg, Marita Andersson Grönlund, Mar Tulinius, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors
European journal of human genetics : EJHG - 2013 -
Effect on bone remodeling after vibration treatment in Duchenne muscular
dystrophy.
Ann-Charlott Söderpalm, P Magnusson, Anna-Karin Kroksmark, Jón Karlsson, Mar Tulinius, Diana Swolin-Eide
Bone - 2012 -
Clinical and electrophysiological findings in children with Leigh
Syndrome
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
ARVO, Fort Lauderdale, USA, 6-10 maj 2012. Poster. - 2012 -
Effekt på benremodelleringen efter vibrationsterapi på patienter med Duchennes
muskeldystrofi.
Ann-Charlott Söderpalm, P Magnusson, Anna-Karin Kroksmark, Jón Karlsson, Mar Tulinius, Diana Swolin-Eide
Riksstämmans katalog. - 2012 -
Distal arthrogryposis: clinical and genetic
findings.
Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Mar Tulinius
Acta paediatrica (Oslo, Norway : 1992) - 2012 -
Ocular motor function in relation to gross motor function in congenital and childhood myotonic dystrophy type
1.
Eva Aring, Anne-Berit Ekström, Mar Tulinius, Anders Sjöström
Acta ophthalmologica - 2012 -
Phenotypic and genotypic variability in Alpers
syndrome.
Kalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, Ingibjörg Bjarnadottir, Anders Oldfors, Inger Nennesmo, Elisabeth Holme, Mar Tulinius, Niklas Darin
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 2012 -
Bone mass development in patients with Duchenne and Becker muscular dystrophies: A four-year clinical
follow-up.
Ann-Charlott Söderpalm, Per Magnusson, Anne-Christine Åhlander, Jón Karlsson, Anna-Karin Kroksmark, Mar Tulinius, Diana Swolin-Eide
Acta paediatrica - 2012 -
Neuromuskulära
sjukdomar
Mar Tulinius
Barnmedicin, (red) K.Hanseus, H.Lagercrantz, T. Lindberg. - 2012 -
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic
study.
Anu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, Anna H Hakonen, Ksenia Sevastianova, Mari Korpela, Pirjo Isohanni, Sanna K Marjavaara, Tiina Tyni, Sari Kiuru-Enari, Helena Pihko, Niklas Darin, Katrin Ounap, Leo Aj Kluijtmans, Anders Paetau, Jana Buzkova, Laurence A Bindoff, Johanna Annunen-Rasila, Johanna Uusimaa, Aila Rissanen, Hannele Yki-Järvinen, Michio Hirano, Mar Tulinius, Jan Smeitink, Henna Tyynismaa
Lancet neurology - 2011 -
Corneal thickness in children and adolescents with mitochondrial
disorders
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, E. Rudholm, Marita Andersson Grönlund
Nordiska barnögonläkarmöte (NPOG), Selfors, Island, 28-29 sept, 2011. Föredrag. - 2011 -
Increased central corneal thickness in children and adolescents with Kearns-Sayre
syndrome
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
ARVO, Fort Lauderdale, USA, 1-5 maj 2011. Poster. - 2011 -
A pilot study on vibration treatment in Duchenne muscular
dystrophy.
Ann-Charlott Söderpalm, P Magnusson, Anna-Karin Kroksmark, M Karlsson, Mar Tulinius, Diana Swolin-Eide
Black Forrest Forum for Musculoskeletal Interaction. Bad Libenzell. - 2011 -
SPP1 genotype is a determinant of disease severity in Duchenne muscular
dystrophy.
E Pegoraro, E P Hoffman, L Piva, B F Gavassini, S Cagnin, M Ermani, L Bello, G Soraru, B Pacchioni, M D Bonifati, G Lanfranchi, C Angelini, A Kesari, I Lee, H Gordish-Dressman, J M Devaney, C M McDonald, Mar Tulinius, Anna-Karin Kroksmark, Anne-Christine Åhlander
Neurology - 2011 -
Muscular dystrophies and congenital myopathies in
childhood
Brynja Kristin Thorarinsdottir, Mar Tulinius, Niklas Darin
Neuromuscular Disorders - 2011 -
Neonatal muscular manifestations in mitochondrial
disorders.
Mar Tulinius, Anders Oldfors
Seminars in fetal & neonatal medicine - 2011 -
Systemic administration of PRO051 in Duchenne's muscular
dystrophy.
Nathalie M Goemans, Mar Tulinius, Johanna T van den Akker, Brigitte E Burm, Peter F Ekhart, Niki Heuvelmans, Tjadine Holling, Anneke A Janson, Gerard J Platenburg, Jessica A Sipkens, J M Ad Sitsen, Annemieke Aartsma-Rus, Gert-Jan B van Ommen, Gunnar Buyse, Niklas Darin, Jan J Verschuuren, Giles V Campion, Sjef J de Kimpe, Judith C van Deutekom
The New England journal of medicine - 2011 -
The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type
1.
Lotta Sjögreen, Mar Tulinius, Stavros Kiliaridis, Anette Lohmander
International journal of pediatric otorhinolaryngology - 2010 -
Ophthalmological findings in children and young adults with genetically verified mitochondrial
disease
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Susann Andersson, Ali-Reza Moslemi, Anders Oldfors, Elisabeth Holme, Mar Tulinius, Niklas Darin
British Journal of Ophthalmology - 2010 -
Ophthalmological findings in patients with mitochondrial diseases divided into infantile or juvenile
onset
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Svenska Läkarsällskapets Riksstämma, Göteborg, Sverige, 1-3 dec 2010. Föredrag. - 2010 -
Ophthalmological findings in patients with mitochondrial diseases divided into infantile or juvenile
onset
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
EVER, Kreta, Grekland, 3-6 okt 2010. Poster. - 2010 -
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin-binding protein
C.
Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, Anders Oldfors
Journal of medical genetics - 2010 -
Visual function in congenital and childhood myotonic dystrophy type
1.
Anne-Berit Ekström, Mar Tulinius, Anders Sjöström, Eva Aring
Ophthalmology - 2010 -
Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood
forms.
Anne-Berit Ekström, Louise Hakenäs-Plate, Mar Tulinius, Elisabet Wentz
Dev Med Child Neurol - 2009 -
A population-based study of genotypic and phenotypic variability in children with spinal muscular
atrophy.
Eva L Arkblad, Mar Tulinius, Anna-Karin Kroksmark, M Henricsson, Niklas Darin
Acta Paediatrica - 2009 -
A novel homozygous RRM2B missense mutation in association with severe mtDNA
depletion.
Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuromuscular disorders : NMD - 2009 -
Molecular basis of infantile reversible cytochrome c oxidase deficiency
myopathy.
Rita Horvath, John P Kemp, Helen A L Tuppen, Gavin Hudson, Anders Oldfors, Suely K N Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, Harold M Marks, Elke Holinski-Feder, Mena Scavina, Maggie C Walter, Jorida Coku, Andrea Günther-Scholz, Paul M Smith, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Robert N Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W Taylor, Patrick F Chinnery, Mar Tulinius, Salvatore DiMauro
Brain : a journal of neurology - 2009 -
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency
myopathy.
Gittan Kollberg, Mar Tulinius, Atle Melberg, Niklas Darin, Oluf Andersen, Daniel Holmgren, Anders Oldfors, Elisabeth Holme
Brain : a journal of neurology - 2009 -
Syn- och ögonförändringar hos 59 barn och ungdomar med genetisk verifierad mitokondriell
sjukdom
Antovan Seyedi Honarvar , S Andersson, Niklas Darin, Mar Tulinius, Ali-Reza Moslemi, Marita Andersson Grönlund
Svenska Läkarsällskapets Riksstämma, Göteborg, Sverige, 26-28 nov 2008. Poster - 2008 -
Ophthalmologic findings in 60 children and young adults with genetically verified mitochondrial
disease
Antovan Seyedi Honarvar , S Andersson, Niklas Darin, Mar Tulinius, Ali-Reza Moslemi, Marita Andersson Grönlund
The 7th European Meeting on Mitochondrial Pathology, Stockholm, 11-14 juni 2008. Poster - 2008 -
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists
postnatally.
Homa Tajsharghi, Eva Kimber, Anna-Karin Kroksmark, Ragnar Jerre, Mar Tulinius, Anders Oldfors
Archives of neurology - 2008 -
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood
forms
Anne-Berit Ekström, Louise Hakenäs-Plate, Lena Samuelsson, Mar Tulinius, Elisabet Wentz
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - 2008 -
Development of orofacial dysfuntions in young individuals with myotonic dystrophy - a retrospective
study.
Lotta Sjögreen, Monica Engvall, Stavros Kiliaridis, Mar Tulinius, Anette Lohmander
Journal of Medical Speech-Language Pathology - 2008 -
Bone markers and bone mineral density in Duchenne muscular
dystrophy
Ann-Charlott Söderpalm, P. Magnusson, Anne-Christine Åhlander, Jón Karlsson, Anna-Karin Kroksmark, Mar Tulinius, Diana Swolin-Eide
Journal of Musculoskeletal and Neuronal Interactions - 2008 -
Progressive encephalopathy and complex I deficiency associated with mutations in
MTND1.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, L. M. Wiklund, Elisabeth Holme, Anders Oldfors
Neuropediatrics - 2008 -
Electrophysiological findings in children and young adults with genetically verified mitochondrial
disease
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Susann Andersson
The European Pediatric Ophthalmology Society (EPOS), Portoroz, Slovenien, 4-6 okt 2007. Föredrag. - 2007 -
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, Susann Andersson
ARVO, Fort Lauderdale, USA, 6-10 maj 2007. Poster. - 2007 -
Ophthalmologic findings in 40 patients with mitochondrial diseases with known DNA
mutation
Marita Andersson Grönlund, Antovan Seyedi Honarvar , E. Rudholm, Niklas Darin, Mar Tulinius, Susann Andersson
American Association of Pediatric Ophthalmology and Strabismus (AAPOS), Seattle, Washington, USA, 11-15 april 2007. Poster. - 2007 -
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, Anders Oldfors, Lars Larsson
J Physiol - 2007 -
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, Mar Tulinius, Diana Swolin-Eide
Neuromuscul Disord - 2007 -
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin
mutation
Homa Tajsharghi, Eva Kimber, Daniel Holmgren, Mar Tulinius, Anders Oldfors
Neurology - 2007 -
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, Mar Tulinius
Eur J Paediatr Neurol - 2007 -
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease
0.
Gittan Kollberg, Mar Tulinius, Thomas Gilljam, Ingegerd Östman-Smith, Gun Forsander, Peter Jotorp, Anders Oldfors, Elisabeth Holme
The New England journal of medicine - 2007 -
Mitochondrial
encephalomyopathies
Anders Oldfors, Mar Tulinius
Handbook of Clinical Neurology - 2007 -
Orofacial dysfunction in children and adolescents with myotonic
dystrophy.
Lotta Sjögreen, Monica Engvall, Anne-Berit Ekström, Anette Lohmander, Stavros Kiliaridis, Mar Tulinius
Developmental medicine and child neurology - 2007 -
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, Niklas Darin
The European Pediatric Ophthalmology Society (EPOS), Viamora, Portugal, 6-7 okt 2006. Poster. - 2006 -
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 - 2006 -
Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe)
gene
Niklas Darin, Gittan Kollberg, Ali-Reza Moslemi, Mar Tulinius, Elisabeth Holme, Marita Andersson Grönlund, S Andersson, Anders Oldfors
Neuromuscular disorders : NMD - 2006 -
Muscle involvement and motor function in
amyoplasia
Anna-Karin Kroksmark, Eva Kimber, Ragnar Jerre, Eva Beckung, Mar Tulinius
Am J Med Genet A - 2006 -
POLG1 mutations associated with progressive encephalopathy in
childhood.
Gittan Kollberg, Ali-Reza Moslemi, Niklas Darin, Inger Nennesmo, Ingibjörg Bjarnadottir, Paul Uvebrant, Elisabeth Holme, Atle Melberg, Mar Tulinius, Anders Oldfors
Journal of neuropathology and experimental neurology - 2006 -
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 - 2006 -
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular
atrophy
Eva L Arkblad, Niklas Darin, Kerstin Berg, Eva Kimber, Göran Brandberg, Christopher Lindberg, Eva Holmberg, Mar Tulinius, Margareta Nordling
Neuromuscular disorders : NMD - 2006 -
A novel missense mutation in TPM2 associated with muscle weakness and distal
arthrogryposis
Homa Tajsharghi, Eva Kimber, Mar Tulinius, Anders Oldfors
Neuromusc Disord - 2006 -
Utredning av barn med miokondriell sjukdom med inriktning på ögon- och
synfunktion
S. Andersson, Mar Tulinius, Niklas Darin, Marita Andersson Grönlund
Nordisk Barnoftalmologisk Kongress, Åbo, Finland, 2-4 sept 2005. Föredrag. - 2005 -
Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat
sequence
Anna-Karin Kroksmark, A. B. Ekström, E. Björck, Mar Tulinius
Dev Med Child Neurol - 2005 -
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA
depletion.
Mar Tulinius, Ali-Reza Moslemi, Niklas Darin, Elisabeth Holme, Anders Oldfors
Neuromuscular disorders : NMD - 2005 -
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha
gene.
Mar Tulinius, Niklas Darin, Lars-Martin Wiklund, Eva Holmberg, Jan Erik Eriksson, Willy Lissens, Linda De Meirleir, Elisabeth Holme
European journal of pediatrics - 2005 -
Early onset myopathy with a novel mutation in the Selenoprotein N gene
(SEPN1)
Homa Tajsharghi, Niklas Darin, Mar Tulinius, Anders Oldfors
Neuromuscul Disord - 2005 -
Two new mutations in the MTATP6 gene associated with Leigh
syndrome.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuropediatrics - 2005 -
Mitochondrial
Disorders
Anders Oldfors, Mar Tulinius
Developmental Neuropathology - 2004 -
Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and
III.
Anna-Karin Kroksmark, Eva Beckung, Mar Tulinius
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 2001