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Mitochondrial Clinical & Research Network (MCRN)
A multinational collaboration of experts on mitochondrial disease
Karin Naess, MD, PhD is Consultant in Child Neurology, at the Department of Pediatrics, Karolinska University Hospital, Stockholm, Sweden.
Dr Naess main area of research is mitochondrial diseases and neurometabolic diseases.
Martin Engvall, MD, consultant in neurology
Assistant director, Centre for inherited metabolic diseases, Karolinska University Hospital.
Dr Engvall works with biochemical and genetic diagnostics of inborn errors of metabolism.
Research project: Identification of new disease genes in inherited neurological disease.
The group's five latest publications:
Sarcoplasmic body myopathy – a rare hereditary myopathy with characteristic inclusions
Engvall, ML; Åhlberg, G; Hedberg, B; Edström, L; Ansved, T
Source ACTA NEUROLOGICA SCANDINAVICA, 223–227. Volume: 112 Issue 2005
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function
BJURSELL, MK;BLOM, HJ;CAYUELA, JA;ENGVALL, ML;LESKO, N;BALASUBRAMANIAM, S;BRANDBERG, G;HALLDIN, M;FALKENBERG, M;JAKOBS, C;SMITH, D;STRUYS, E;VON DOBELN, U;GUSTAFSSON, CM;LUNDEBERG, J;WEDELL, A
American journal of human genetics, 507-15 Volume 89 Issue 4 2011
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid
FREYER, C;STRANNEHEIM, H;NAESS, K;MOURIER, A;FELSER, A;MAFFEZZINI, C;LESKO, N;BRUHN, H;ENGVALL, ML;WIBOM, R;BARBARO, M;HINZE, Y;MAGNUSSON, M;ANDEER, R;ZETTERSTROM, RH;VON DOBELN, U;WREDENBERG, A;WEDELL, A
Journal of medical genetics, 779-83 Volume 52 Issue 11 2015
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
STRANNEHEIM, H;ENGVALL, ML;NAESS, K;LESKO, N;LARSSON, P;DAHLBERG, M;ANDEER, R;WREDENBERG, A;FREYER, C;BARBARO, M;BRUHN, H;EMAHAZION, T;MAGNUSSON, M;WIBOM, R;ZETTERSTROM, RH;WIRTA, V;VON DOBELN, U;WEDELL, A
BMC genomics, Volume 15 Issue 2014
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients
VAN KUILENBURG, AB;DOBRITZSCH, D;MEIJER, J;KRUMPEL, M;SELIM, LA;RASHED, MS;ASSMANN, B;MEINSMA, R;LOHKAMP, B;ITO, T;ABELING, NG;SAITO, K;ETO, K;SMITKA, ML;ENGVALL, M;ZHANG, C;XU, W;ZOETEKOUW, L;HENNEKAM, RC
Biochimica et biophysica acta, 1096-108 Volume 1822 Issue 7 2012