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Mitochondrial Clinical & Research Network (MCRN)

 

A multinational collaboration of experts on mitochondrial disease

 

Gothenburg

Már Tulinius, MD, PhD is Professor of Pediatrics, at the Queen Silvia Children's Hospital, University of Gothenburg, Sweden.

Professor M. Tulinius did his PhD thesis on mitochondrial diseases in children in 1991 and has been working with diagnostics, research and treatment of children with mitochondrial disease since 1984. Other areas of research are neuromuscular diseases of children and arthrogryposis.

 

Niklas Darin, MD, PhD, is Associate Professor in Child Neurology, at the Queen Silvia Children's Hospital, University of Gothenburg, Sweden.

His main areas of research are neurometabolic/neurodegenerative diseases with special focus on translational research in mitochondrial diseases. 

Gittan Kollberg, PhD is Molecular Biologist, Biochemist and works with investigations of mitochondrial and metabolic disorders at the Department of Clinical Chemistry at Sahlgrenska University Hospital in Gothenburg, Sweden.

Dr Kollberg is in charge for the biochemical measurements of respiratory chain function in isolated skeletal muscle mitochondria and performs genetic studies of genes coupled to mitochondria and respiratory chain function.  

Kalliopi Sofou, MD, PhD, is Pediatrician and Postdoctoral Research Fellow in Child Neurology, at the Queen Silvia Children's Hospital, University of Gothenburg, Sweden. Her main areas of research are neurometabolic and mitochondrial diseases with special interest in translational research in early-onset mitochondrial encephalopathies. 

Her PhD thesis in 2014 entitles 'Genotype-phenotype correlations in mitochondrial diseases with focus on early-onset mitochondrial encephalopathies'.

 

e-mail: kalliopi.sofou@vgregion.se

Kristoffer Björkman, MD is resident in Pediatrics at Queen Silvia Children's Hospital, University of Gothenburg, Sweden. He is currently doing his PhD thesis on disease progression in patients with large-scale mtDNA deletions.

Maria Parasyri, MD, is Pediatrician and Fellow in Child Neurology, at the Queen Silvia Children's Hospital, University of Gothenburg, Sweden.

She is currently doing research in renal manifestations of mitochondrial diseases.

 

e-mail: maria.parasyri@vgregion.se

 

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The group's five latest publications:

 

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

Darin N, Hedberg-Oldfors C, Kroksmark AK, Moslemi AR, Kollberg G, Oldfors A.

Eur J Neurol. 2017 Feb 9. doi: 10.1111/ene.13249. [Epub ahead of print]

 

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.

Sofou K, Dahlin M, Hallböök T, Lindefeldt M, Viggedal G, Darin N.

J Inherit Metab Dis. 2017 Mar;40(2):237-245. doi: 10.1007/s10545-016-0011-5.

 

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.

 

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darin N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B.

Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342.

 

 

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.