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Publications (original articles or review articles) published in 2015 from OUS - Department of Clinical Neurosciences for Children

16 publications found

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973

Bugge I, Dyb G, Stensland SØ, Ekeberg Ø, Wentzel-Larsen T, Diseth TH (2015)
Physical injury and posttraumatic stress reactions. A study of the survivors of the 2011 shooting massacre on Utøya Island, Norway
J Psychosom Res, 79 (5), 384-90
DOI 10.1016/j.jpsychores.2015.09.005, PubMed 26526313

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 et al. (2015)
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
J Inherit Metab Dis, 39 (2), 243-52
DOI 10.1007/s10545-015-9894-9, PubMed 26475597

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C et al. (2015)
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Am J Med Genet A, 167A (2), 296-312
DOI 10.1002/ajmg.a.36887, PubMed 25604658

Eilertsen ME, Hjemdal O, Le TT, Diseth TH, Reinfjell T (2015)
Resilience factors play an important role in the mental health of parents when children survive acute lymphoblastic leukaemia
Acta Paediatr, 105 (1), e30-4
DOI 10.1111/apa.13232, PubMed 26426347

Fjermestad KW, Vatne TM, Gjone H (2015)
Cognitive behavioral therapy for adolescents with 22q11.2 deletion syndrome
Adv. Ment. Health Intellet. Disabil., 9 (1), 30-39
DOI 10.1108/AMHID-05-2014-0017

Friis S, Melle I, Johannessen JO, Røssberg JI, Barder HE, Evensen JH, Haahr U, Ten Velden Hegelstad W, Joa I, Langeveld J, Larsen TK, Opjordsmoen S, Rund BR, Simonsen E, Vaglum PW, McGlashan TH (2015)
Early Predictors of Ten-Year Course in First-Episode Psychosis
Psychiatr Serv, 67 (4), 438-43
DOI 10.1176/appi.ps.201400558, PubMed 26567932

Heier M, Margeirsdottir HD, Torjesen PA, Seljeflot I, Stensæth KH, Gaarder M, Brunborg C, Hanssen KF, Dahl-Jørgensen K (2015)
The advanced glycation end product methylglyoxal-derived hydroimidazolone-1 and early signs of atherosclerosis in childhood diabetes
Diab Vasc Dis Res, 12 (2), 139-45
DOI 10.1177/1479164114560910, PubMed 25616705

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420

Ramstad K, Jahnsen RB, Diseth TH (2015)
Adolescents with cerebral palsy and their contact with the GP and the habilitative services
Tidsskr. Nor. Laegeforen., 135 (5), 428-432

Ramstad K, Jahnsen RB, Diseth TH (2015)
[Adolescents with cerebral palsy and their contact with the GP and the habilitative services]
Tidsskr Nor Laegeforen, 135 (5), 429-33
DOI 10.4045/tidsskr.14.0434, PubMed 25761027

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E et al. (2015)
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Elife, 4, e06602
DOI 10.7554/eLife.06602, PubMed 26026149

Schumacher EM, Stiris TA, Larsson PG (2015)
Effective connectivity in long-term EEG monitoring in preterm infants
Clin Neurophysiol, 126 (12), 2261-8
DOI 10.1016/j.clinph.2015.01.017, PubMed 25735477

Terjesen T, Lofterød B, Skaaret I (2015)
Gait improvement surgery in ambulatory children with diplegic cerebral palsy
Acta Orthop, 86 (4), 511-7
DOI 10.3109/17453674.2015.1011927, PubMed 25637100

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N et al. (2015)
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Brain, 139 (Pt 3), 674-91
DOI 10.1093/brain/awv352, PubMed 26700687

Ørstavik K, Wallace SC, Torbergsen T, Abicht A, Erik Tangsrud S, Kerty E, Rasmussen M (2015)
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
J Neuromuscul Dis, 2 (2), 181-184
DOI 10.3233/JND-150069, PubMed 27858731