Publications

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

12 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
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
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
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
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
PubMed 26426347

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
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), 429-33
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
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
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
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
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
PubMed 27858731