Petter Strømme

• Misceo, Doriana; Senaratne, Lokuliyanage Dona Samudita; Mero, Inger-Lise; Sundaram, Arvind; Bjørnstad, Pål Marius & Szczałuba, Krzysztof [Show all 12 contributors for this article] (2023). Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome. Genes. ISSN 2073-4425. 14(11), p. 1–11. doi: 10.3390/genes14111985. Full text in Research Archive
• Misceo, Doriana; Lirussi, Lisa; Strømme, Petter; Sumathipala, Dulika Sanjeewani; Guerin, Andrea & Wolf, Nicole I [Show all 14 contributors for this article] (2023). A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis. Brain. ISSN 0006-8950. 146(8), p. 3513–3527. doi: 10.1093/brain/awad086. Full text in Research Archive
• Saida, Ken; Maroofian, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T. & Marafi, Dana [Show all 87 contributors for this article] (2022). Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine. ISSN 1098-3600. 25(1), p. 90–102. doi: 10.1016/j.gim.2022.09.010.
• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Fattahi, Zohreh; Lüders, Torben; Sheng, Ying & Kahrizi, Kimia [Show all 20 contributors for this article] (2022). ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain. ISSN 0006-8950. 145(7), p. 2602–2616. doi: 10.1093/brain/awac034. Full text in Research Archive
• Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley & Barat-Houari, Mouna [Show all 34 contributors for this article] (2022). DNA methylation episignature in Gabriele-de Vries syndrome. Genetics in Medicine. ISSN 1098-3600. 24(4), p. 905–914. doi: 10.1016/j.gim.2021.12.003.
• Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan & Tran, Luan T. [Show all 119 contributors for this article] (2021). Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 106(2), p. E660–E674. doi: 10.1210/clinem/dgaa700. Full text in Research Archive
• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Einarsen, Ingunn Holm; Bjørndalen, Hilde & Server, Andrés [Show all 10 contributors for this article] (2020). Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. BMC Medical Genetics. ISSN 1471-2350. 21:96, p. 1–6. doi: 10.1186/s12881-020-01024-y. Full text in Research Archive
• Sumathipala, Dulika Sanjeewani; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H. & Frengen, Eirik [Show all 7 contributors for this article] (2020). A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1. Clinical Dysmorphology. ISSN 0962-8827. 29(2), p. 107–110. doi: 10.1097/MCD.0000000000000314.
• Epting, Daniel; Senaratne, Lokuliyanage Dona Samudita; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika Sanjeewani & Larsen, Selma Mujezinovic [Show all 30 contributors for this article] (2020). Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. . Human Mutation. ISSN 1059-7794. p. 1–16. doi: 10.1002/humu.24127. Full text in Research Archive
• Bjurulf, Bjørn; Magnus, Per; Hallböök, Tove & Strømme, Petter (2019). Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study. Developmental Medicine & Child Neurology. ISSN 0012-1622. 62(1), p. 57–61. doi: 10.1111/dmcn.14393. Full text in Research Archive
• Filges, Isabel & Strømme, Petter (2019). CUGC for Stromme syndrome and CENPF-related disorders. European Journal of Human Genetics. ISSN 1018-4813. 28, p. 132–136. doi: 10.1038/s41431-019-0498-y. Full text in Research Archive
• Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette & Holmgren, Asbjørn [Show all 17 contributors for this article] (2018). Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid. ISSN 1050-7256. 28(11), p. 1406–1415. doi: 10.1089/thy.2018.0595. Full text in Research Archive
• Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza & Hollizeck, Sebastian [Show all 24 contributors for this article] (2018). Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics. ISSN 1061-4036. 50(3), p. 344–348. doi: 10.1038/s41588-018-0063-6. Full text in Research Archive
• Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan & Hu, Chun [Show all 75 contributors for this article] (2017). GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics. ISSN 0022-2593. 54(7), p. 460–470. doi: 10.1136/jmedgenet-2016-104509. Full text in Research Archive
• Gabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman & Douglas, Evelyn [Show all 51 contributors for this article] (2017). YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics. ISSN 0002-9297. 100(6), p. 907–925. doi: 10.1016/j.ajhg.2017.05.006. Full text in Research Archive
• Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn & Stray-Pedersen, Asbjørg [Show all 10 contributors for this article] (2016). Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Genes. ISSN 2073-4425. 7(12). doi: 10.3390/genes7120108. Show summary

  Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

• Pedurupillay Jesuthasan, Christeen Ramane; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne & Stadheim, Barbro [Show all 12 contributors for this article] (2016). Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Neuromuscular Disorders. ISSN 0960-8966. 26(9), p. 570–575. doi: 10.1016/j.nmd.2016.06.457.
• Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah & Hentschel, Julia [Show all 58 contributors for this article] (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. ISSN 0028-3878. 86(23), p. 2171–2178. doi: 10.1212/WNL.0000000000002740.
• Pedurupillay Jesuthasan, Christeen Ramane; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik & Misceo, Doriana [Show all 7 contributors for this article] (2016). Segregation of incomplete achromatopsia and alopecia due to PDE6H and LPAR6 variants in a consanguineous family from Pakistan. Genes. ISSN 2073-4425. 7(8). doi: 10.3390/genes7080041. Show summary

  We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree Pakistani cousins. Whole exome sequencing of the elder brother and parents, followed by Sanger sequencing of all four family members, led to the identification of the variants responsible for the two phenotypes. One variant was a homozygous nonsense variant in the inhibitory subunit of the cone-specific cGMP phosphodiesterase gene, PDE6H:c.35C>G (p.Ser12*). PDE6H is expressed in the cones of the retina, which are involved in perception of color vision. This is the second report of a homozygous PDE6H:c.35C>G variant causing incomplete achromatopsia (OMIM 610024), thus strongly supporting the hypothesis that loss-of-function variants in PDE6H cause this visual deficiency phenotype. The second variant was a homozygous missense substitution in the lysophosphatidic acid receptor 6, LPAR6:c.188A>T (p.Asp63Val). LPAR6 acts as a G-protein-coupled receptor involved in hair growth. Biallelic loss-of-function variants in LPAR6 cause hypotrichosis type 8 (OMIM 278150), with or without woolly hair, a form of non-syndromic alopecia. Biallelic LPAR6:c.188A>T was previously described in five families from Pakistan.

• Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Show all 19 contributors for this article] (2016). Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(4), p. 359–363. doi: 10.1002/humu.22960.
• Barøy, Tuva; Pedurupillay Jesuthasan, Christeen Ramane; Bliksrud, Yngve Thomas; Rasmussen, Magnhild; Holmgren, Asbjørn & Vigeland, Magnus Dehli [Show all 13 contributors for this article] (2016). A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. European Journal of Medical Genetics. ISSN 1769-7212. 59(6-7), p. 342–346. doi: 10.1016/j.ejmg.2016.05.005.
• Hope, Sigrun; Johannessen, Christen Horn; Aanonsen, Nils Olav & Strømme, Petter (2015). The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway. European Journal of Neurology. ISSN 1351-5101. 23(51), p. 36–44. doi: 10.1111/ene.12884.
• Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana & Ferdinandusse, Sacha [Show all 18 contributors for this article] (2015). A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Human Molecular Genetics. ISSN 0964-6906. 24(20), p. 5845–5854. doi: 10.1093/hmg/ddv305.
• Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett & Romani, Marta [Show all 44 contributors for this article] (2015). Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLIFE. ISSN 2050-084X. 4(MAY), p. 1–37. doi: 10.7554/eLife.06602.
• Christeen Ramane, Pedurupillay Jesuthasan; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli & Sheng, Ying [Show all 9 contributors for this article] (2015). Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. American Journal of Medical Genetics. Part A. ISSN 1552-4825. 167(3), p. 657–663. doi: 10.1002/ajmg.a.36944.
• Wolf, Nicole I.; Vanderver, Adeline; van Spaendonk, R.M.; Schiffmann, Raphael; Brais, B. & Bugiani, Massimiliano [Show all 21 contributors for this article] (2014). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. ISSN 0028-3878. 83(21), p. 1898–1905. doi: 10.1212/WNL.0000000000001002.
• Strømme, Kirsten Kierulf; Strømme, Petter; Bjertness, Espen & Lien, Lars (2014). Intrauterine growth restriction: A population-based study of the association with academic performance and psychiatric health. Acta Paediatrica. ISSN 0803-5253. 103(8), p. 886–891. doi: 10.1111/apa.12657. Show summary

  To investigate whether intrauterine growth restriction (IUGR), resulting in small for gestational age (SGA) infants, is associated with increased susceptibility to psychiatric problems and academic impairment in late teens. A cohort of all 10th-grade students in Oslo, Norway, followed up between 2001 and 2004 (n = 2131), was linked with foetal growth data. IUGR was considered equal to SGA at the lowest 2.5th, 5th, and 10th percentiles and appropriate for gestational age (AGA) as the highest 90th percentile. Mental health was evaluated using the Hopkins Symptoms Check List and the Strength and Difficulties Questionnaire, and academic achievements and ambitions were self-reported by the students.Psychiatric problems were equally prevalent in all groups. However, the SGA girls performed inferiorly compared to their AGA peers in the school subjects English [3.6 vs 3.9 (p = 0.03)], mathematics [4.0 vs 4.3 (p = 0.01)] and social science [4.2 vs 4.4 (p = 0.05)], but not for Norwegian. This association was not observed in boys. There was an association between academic impairment and prematurity, occurring more frequently among immigrants (p < 0.001). SGA had a small negative impact on academic achievements in adolescent girls, but not boys. There was no association between SGA and psychiatric problems in either gender

• Møller, R.S.; Jensen, L.R.; Maas, S.M.; Filmus, J.; Capurro, M & Hansen, C [Show all 31 contributors for this article] (2014). X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics. ISSN 0340-6717. 133(5), p. 625–638. doi: 10.1007/s00439-013-1403-3.
• Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn & Rødningen, Olaug Kristin [Show all 12 contributors for this article] (2013). Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet Journal of Rare Diseases. ISSN 1750-1172. 8. doi: 10.1186/1750-1172-8-3.
• Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy & Hjorthaug, Hanne Sagsveen [Show all 13 contributors for this article] (2012). A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. European Journal of Human Genetics. ISSN 1018-4813. 20(1), p. 58–63. doi: 10.1038/ejhg.2011.126.
• Strømme, Petter; Dobrenis, Kostantin; Sillitoe, Roy V.; Gulinello, Maria; Ali, Nafeeza F. & Davidson, Christin [Show all 11 contributors for this article] (2011). X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain. ISSN 0006-8950. 134, p. 3369–3383. doi: 10.1093/brain/awr250.
• Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar & Strømme, Petter [Show all 8 contributors for this article] (2011). A Translocation Between Xq21.33 and 22q13.33 Causes an Intragenic SHANK3 Deletion in a Woman With Phelan-McDermid Syndrome and Hypergonadotropic Hypogonadism. American Journal of Medical Genetics. ISSN 0148-7299. 155(2), p. 403–408. doi: 10.1002/ajmg.a.33798.
• Schroer, RJ; Holden, Kenton R.; Tarpey, Patrick; Matheus, MG; Griesemer, DA & Friez, MJ [Show all 12 contributors for this article] (2010). Natural History of Christianson Syndrome. American Journal of Medical Genetics. ISSN 0148-7299. 152A(11), p. 2775–2783. doi: 10.1002/ajmg.a.33093.
• Strømme, P; Surén, Pål; Kanavin, ØJ; Rootwelt, T; Woldseth, Bente & Abdelnoor, Michael [Show all 7 contributors for this article] (2010). Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway. European journal of paediatric neurology. ISSN 1090-3798. 14(2), p. 138–145. doi: 10.1016/j.ejpn.2009.03.007.
• Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine & Strømme, Petter [Show all 7 contributors for this article] (2010). A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. European Journal of Medical Genetics. ISSN 1769-7212. 53(4), p. 221–224. doi: 10.1016/j.ejmg.2010.03.010.
• Roxrud, Ingrid; Raiborg, Camilla; Gilfillan, Gregor Duncan; Strømme, Petter & Stenmark, Harald Alfred (2009). Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. Experimental Cell Research. ISSN 0014-4827. 315(17), p. 3014–3027. doi: 10.1016/j.yexcr.2009.07.012.
• Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B & Jaeger, T [Show all 9 contributors for this article] (2009). SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics. ISSN 1364-6745. 10(4), p. 371–374. doi: 10.1007/s10048-009-0197-x.
• Gilfillan, Gregor Duncan; Selmer, Kaja Kristine; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten & Eiklid, Kristin Louise [Show all 27 contributors for this article] (2008). SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. American Journal of Human Genetics. ISSN 0002-9297. 82(4), p. 1003–1010. doi: 10.1016/j.ajhg.2008.01.013..
• Strømme, Petter; Magnus, Per; Kanavin, Øivind J.; Rootwelt, Terje; Woldseth, Berit & Abdelnoor, Michael (2008). Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study. Acta Paediatrica. ISSN 0803-5253. 97(1), p. 35–40. doi: 10.1111/j.1651-2227.2007.00579.x.
• Bjurulf, B; Spetalen, S; Erichsen, A; Vanier, MT; Strom, EH & Strømme, Petter (2008). Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: Morphological findings in lung and nervous tissue. Medical Science Monitor. ISSN 1234-1010. 14, p. CS71–CS75.
• Kanavin, Øivind Juris; Woldseth, Berit; Jellum, Egil; Tvedt, Bjørn; Andresen, Brage S & Strømme, Petter (2007). 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. Journal of Medical Case Reports. ISSN 1752-1947.
• Strømme, Petter; Kanavin, Øivind Juris; Abdelnoor, Michael; Woldseth, Berit; Rootwelt, Terje & Diderichsen, Jørgen [Show all 9 contributors for this article] (2007). Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study. BMC Pediatrics. ISSN 1471-2431. 7. doi: 10.1186/1471-2431-7-25.
• Kleppa, Liv; Kanavin, Øivind Juris; Klungland, Arne & Strømme, Petter (2007). A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. ISSN 0306-4522. 4, p. 1397–1406. doi: 10.1016/j.neuroscience.2006.09.025.
• Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter & Lazarou, Lazarous P [Show all 9 contributors for this article] (2007). Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. American Journal of Medical Genetics. ISSN 0148-7299. 143(13), p. 1510–1513.
• Kleppa, Liv; Kanavin, Ø.J; Klungland, Arne & Strømme, Petter (2006). A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. ISSN 0306-4522. doi: 10.1016/j.neuroscience.
• Strømme, Petter; Hagen, Carl Birger van der; Haakonsen, Monica; Risberg, Knut & Hennekam, Raoul (2005). Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism. Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery. ISSN 0284-4311. 39, p. 178–179.
• Matlary, Arpad; Prescott, Trine; Tvedt, B; Lindberg, Knut; Server, Andres Alonso & Aicardi, Jean [Show all 7 contributors for this article] (2004). Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. Clinical Dysmorphology. ISSN 0962-8827. 13(4), p. 257–260.
• Strømme, Petter; Sundet, Kjetil Søren; Mørk, Cato; Cassiman, J-J.; Fryns, J-P. & Claes, S. (1999). X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. Journal of Medical Genetics. ISSN 0022-2593. 36(5), p. 374–378.

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• Strømme, Petter (2021). Sint nikkedukke – nevrologisk syndrom i en kriminalroman. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 141(5), p. 1–8. doi: 10.4045/tidsskr.20.0729.
• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Corominas, Jordi; Frengen, Eirik & Misceo, Doriana (2019). TBCK encephaloneuropathy with abnormal lysosomal storage: Use of a structural variant bioinformatics pipeline on whole-genome sequencing data unravels a 20-year-old clinical mystery. Pediatric Neurology. ISSN 0887-8994. 96, p. 74–75. doi: 10.1016/j.pediatrneurol.2019.02.001.
• Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Show all 19 contributors for this article] (2016). Erratum to: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(7), p. 711–711. doi: 10.1002/humu.22997.
• Lee, AK; Dervola, KS; Jensen, V; Roberg, BÅ; Nielsen, MJ & Strømme, Petter [Show all 8 contributors for this article] (2013). Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions.
• Jensen, Vidar; Dervola, KS; Lee, Anee Karin; Hvalby, OC; Roberg, BÅ & Nielsen, MJ [Show all 7 contributors for this article] (2013). Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions.
• SLETTEDAL, IMER ØNDER; DAHL, HILDE MARGRETE; Sandvig, Inger; Dalmau, Josep & Strømme, Petter (2012). Ung jente med psykose, kognitiv svikt og kramper. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 132(18), p. 2073–2076. doi: 10.4045/tidsskr.12.0092.
• Barøy, Tuva; Misceo, Doriana; Fannemel, Madeleine; Stormyr, Alice; Rødningen, Olaug Kristin & Helle, Johan Robert [Show all 12 contributors for this article] (2010). Two girls with mental retardation and behavioural abnormalities: Is the deletion of the ATXN1 gene on 6p22.3 a major factor in causing the phenotype?
• Kanavin, Øivind J. & Strømme, Petter (2010). Barn med nevrodegenerativ sykdom :. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 130(15), p. 1489–1492.
• Strømme, Petter (2008). Mental retardasjon. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 128(7), p. 841–841.
• Strømme, Petter (2008). Artistisk kreativitet og Huntingtons sykdom. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 128(19), p. 2226–2226.
• Strømme, Petter (2008). Writings by parents. Literary descriptions of mentally handicapped children. In Dietrichs, Espen & Stien, Ragnar (Ed.), The Brain and the Arts. Koloritt. ISSN 978-82-92395-64-6. p. 171–180.
• Strømme, Petter (2008). Woody Guthrie and Huntington's Disease. In Dietrichs, Espen & Stien, Ragnar (Ed.), The Brain and the Arts. Koloritt. ISSN 978-82-92395-64-6. p. 109–111.

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