RSS feed

Publications by Alf Bjørnstad

6 publications found

Original articles

Stenshorne I, Syvertsen M, Ramm-Pettersen A, Henning S, Weatherup E, Bjørnstad A, Brüggemann N, Spetalen T, Selmer KK, Koht J (2022)
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway
Front Pediatr, 10, 965282
DOI 10.3389/fped.2022.965282, PubMed 35979408

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA et al. (2018)
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Am J Hum Genet, 103 (4), 592-601
DOI 10.1016/j.ajhg.2018.08.013, PubMed 30245030

Ohlenbusch A, Edvardson S, Skorpen J, Bjornstad A, Saada A, Elpeleg O, Gärtner J, Brockmann K (2012)
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Orphanet J Rare Dis, 7, 69
DOI 10.1186/1750-1172-7-69, PubMed 22995659

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A (2009)
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Clin Dysmorphol, 18 (2), 78-82
DOI 10.1097/MCD.0b013e32831e19cd, PubMed 19057379

van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjørnstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P (2008)
Cerebellar leukoencephalopathy: most likely histiocytosis-related
Neurology, 71 (17), 1361-7
DOI 10.1212/01.wnl.0000327680.74910.93, PubMed 18936429

Brockmann K, Bjornstad A, Dechent P, Korenke CG, Smeitink J, Trijbels JM, Athanassopoulos S, Villagran R, Skjeldal OH, Wilichowski E, Frahm J, Hanefeld F (2002)
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Ann Neurol, 52 (1), 38-46
DOI 10.1002/ana.10232, PubMed 12112045