Publications 2024

Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S (2024)
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Commun Biol, 7 (1), 831
DOI 10.1038/s42003-024-06466-1, PubMed 38977784

Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E (2024)
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Genes (Basel), 15 (4)
DOI 10.3390/genes15040500, PubMed 38674434

Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM et al. (2024)
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Mov Disord, 39 (9), 1624-1630
DOI 10.1002/mds.29883, PubMed 38899514

Publications 2023

Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E (2023)
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain, 146 (8), 3513-3527
DOI 10.1093/brain/awad086, PubMed 36917474

Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E (2023)
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928

Publications 2022

Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D et al. (2022)
DNA methylation episignature in Gabriele-de Vries syndrome
Genet Med, 24 (4), 905-914
DOI 10.1016/j.gim.2021.12.003, PubMed 35027293

Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK et al. (2022)
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Genet Med, 25 (1), 90-102
DOI 10.1016/j.gim.2022.09.010, PubMed 36318270

Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D (2022)
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Brain, 145 (7), 2602-2616
DOI 10.1093/brain/awac034, PubMed 35104841

Publications 2021

Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS et al. (2021)
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
J Clin Endocrinol Metab, 106 (2), e660-e674
DOI 10.1210/clinem/dgaa700, PubMed 33005949

Strømme P (2021)
Angry puppet - a neurological syndrome in crime fiction
Tidsskr Nor Laegeforen, 141 (5)
DOI 10.4045/tidsskr.20.0729, PubMed 33754662

Publications 2020

Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE et al. (2020)
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Hum Mutat, 41 (12), 2179-2194
DOI 10.1002/humu.24127, PubMed 33131181

Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E (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 Med Genet, 21 (1), 96
DOI 10.1186/s12881-020-01024-y, PubMed 32381069

Sumathipala DS, Misceo D, Larsen SM, Barøy T, Gamage TH, Frengen E, Strømme P (2020)
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
Clin Dysmorphol, 29 (2), 107-110
DOI 10.1097/MCD.0000000000000314, PubMed 31929336

Publications 2019

Bjurulf B, Magnus P, Hallböök T, Strømme P (2019)
Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study
Dev Med Child Neurol, 62 (1), 57-61
DOI 10.1111/dmcn.14393, PubMed 31745987

Filges I, Stromme P (2019)
CUGC for Stromme syndrome and CENPF-related disorders
Eur J Hum Genet, 28 (1), 132-136
DOI 10.1038/s41431-019-0498-y, PubMed 31488893

Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D (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
Pediatr Neurol, 96, 74-75
DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414

Publications 2018

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C (2018)
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Nat Genet, 50 (3), 344-348
DOI 10.1038/s41588-018-0063-6, PubMed 29483653

Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ (2018)
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Thyroid, 28 (11), 1406-1415
DOI 10.1089/thy.2018.0595, PubMed 30296914

Publications 2017

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM et al. (2017)
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A et al. (2017)
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
J Med Genet, 54 (7), 460-470
DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535

Skjeldal OH, Rasmussen M, Barlinn J, Ramstad K, Strømme P, Sandvig I, Selberg T (2017)
[Not Available]
Tidsskr Nor Laegeforen, 137 (14-15)
DOI 10.4045/tidsskr.17.0519, PubMed 28828824

Publications 2016

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (7), 711
DOI 10.1002/humu.22997, PubMed 27300082

Hope S, Johannessen CH, Aanonsen NO, Strømme P (2016)
The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway
Eur J Neurol, 23 Suppl 1, 36-44
DOI 10.1111/ene.12884, PubMed 26563096

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ et al. (2016)
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922

Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P (2016)
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860

Publications 2015

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

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

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

Publications 2014

Kierulf Strømme K, Strømme P, Bjertness E, Lien L (2014)
Intrauterine growth restriction - a population-based study of the association with academic performance and psychiatric health
Acta Paediatr, 103 (8), 886-91
DOI 10.1111/apa.12657, PubMed 24724871

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G, 4H Research Group (2014)
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Neurology, 83 (21), 1898-905
DOI 10.1212/WNL.0000000000001002, PubMed 25339210

Publications 2013

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N et al. (2013)
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Hum Genet, 133 (5), 625-38
DOI 10.1007/s00439-013-1403-3, PubMed 24326587

Publications 2012

Slettedal IÖ, Dahl HM, Sandvig I, Dalmau J, Strømme P (2012)
Young girl with psychosis, cognitive failure and seizures
Tidsskr Nor Laegeforen, 132 (18), 2073-6
DOI 10.4045/tidsskr.12.0092, PubMed 23038201

Publications 2011

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855

Strømme P, Dobrenis K, Sillitoe RV, Gulinello M, Ali NF, Davidson C, Micsenyi MC, Stephney G, Ellevog L, Klungland A, Walkley SU (2011)
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction
Brain, 134 (Pt 11), 3369-83
DOI 10.1093/brain/awr250, PubMed 21964919

Publications 2010

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277

Kanavin ØJ, Strømme P (2010)
[Children with neurodegenerative disease]
Tidsskr Nor Laegeforen, 130 (15), 1489-92
DOI 10.4045/tidsskr.10.0020, PubMed 20706313

Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE (2010)
Natural history of Christianson syndrome
Am J Med Genet A, 152A (11), 2775-83
DOI 10.1002/ajmg.a.33093, PubMed 20949524

Publications 2009

Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E (2009)
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
DOI 10.1007/s10048-009-0197-x, PubMed 19471976

Roxrud I, Raiborg C, Gilfillan GD, Strømme P, Stenmark H (2009)
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease
Exp Cell Res, 315 (17), 3014-27
DOI 10.1016/j.yexcr.2009.07.012, PubMed 19619532

Strømme P, Suren P, Kanavin OJ, Rootwelt T, Woldseth B, Abdelnoor M, Magnus P (2009)
Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: a cohort study from Oslo, Norway
Eur J Paediatr Neurol, 14 (2), 138-45
DOI 10.1016/j.ejpn.2009.03.007, PubMed 19446480

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L et al. (2009)
Expanding CEP290 mutational spectrum in ciliopathies
Am J Med Genet A, 149A (10), 2173-80
DOI 10.1002/ajmg.a.33025, PubMed 19764032

Publications 2008

Bjurulf B, Spetalen S, Erichsen A, Vanier MT, Strøm EH, Strømme P (2008)
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue
Med Sci Monit, 14 (8), CS71-5
PubMed 18668002

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE et al. (2008)
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Am J Hum Genet, 82 (4), 1003-10
DOI 10.1016/j.ajhg.2008.01.013, PubMed 18342287

Strømme P (2008)
[Mental retardation]
Tidsskr Nor Laegeforen, 128 (7), 841; author reply 841
PubMed 18389036

Strømme P (2008)
[Artistic creativeness and Huntington disease]
Tidsskr Nor Laegeforen, 128 (19), 2226
PubMed 18846157

Publications 2007

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S et al. (2007)
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
Am J Hum Genet, 81 (1), 104-13
DOI 10.1086/519026, PubMed 17564967

Dahl HM, Strømme P (2007)
[Tuberous sclerosis]
Tidsskr Nor Laegeforen, 127 (7), 853
PubMed 17435801

Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P (2007)
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
J Med Case Rep, 1, 98
DOI 10.1186/1752-1947-1-98, PubMed 17883863

Stromme P, Kanavin OJ, Abdelnoor M, Woldseth B, Rootwelt T, Diderichsen J, Bjurulf B, Sommer F, Magnus P (2007)
Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study
BMC Pediatr, 7, 25
DOI 10.1186/1471-2431-7-25, PubMed 17597517

Strømme P, Magnus P, Kanavin ØJ, Rootwelt T, Woldseth B, Abdelnoor M (2007)
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
Acta Paediatr, 97 (1), 35-40
DOI 10.1111/j.1651-2227.2007.00579.x, PubMed 18076719

Ørstavik KH, Knudsen GP, Nordgarden H, Ormerod E, Strømme P, Lazarou LP, Rosser LG, Prescott T, Houge G (2007)
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Am J Med Genet A, 143A (13), 1510-3
DOI 10.1002/ajmg.a.31797, PubMed 17568423

Publications 2006

Kanavin ØJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Strømme P (2006)
Microphthalmia and brain atrophy: a novel neurodegenerative disease
Ann Neurol, 59 (4), 719-23
DOI 10.1002/ana.20827, PubMed 16566018

Kleppa L, Kanavin ØJ, Klungland A, Strømme P (2006)
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
Neuroscience, 145 (4), 1397-406
DOI 10.1016/j.neuroscience.2006.09.025, PubMed 17084038

Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J (2006)
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Brain, 129 (Pt 6), 1438-45
DOI 10.1093/brain/awl107, PubMed 16670177

Strømme P (2006)
Foreldrepoesi: om psykisk utviklingshemming i litteraturen
In Hjernen og kulturen, Koloritt forlag, Oslo, s. 128-137
BIBSYS 070134081

Publications 2005

Stromme P (2005)
ARX and other single genes in X-linked mental retardation: revisiting a population-based study
J. Pediatr. Neurol., 3 (2), 121-122

Strømme P, van der Hagen CB, Haakonsen M, Risberg K, Hennekam R (2005)
Follow-up of a girl with cleft lip and palate and multiple malformations: trisomy 20 mosaicism
Scand J Plast Reconstr Surg Hand Surg, 39 (3), 178-9
DOI 10.1080/02844310510006141, PubMed 16019751

Publications 2004

Matlary A, Prescott T, Tvedt B, Lindberg K, Server A, Aicardi J, Strømme P (2004)
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG
Clin Dysmorphol, 13 (4), 257-260
DOI 10.1097/00019605-200410000-00012, PubMed 15365465

Publications 2003

Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, Strømme P, Akre B, Vermeulen S (2003)
Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR
Am J Med Genet A, 118A (3), 235-40
DOI 10.1002/ajmg.a.10106, PubMed 12673653

Strømme P, Bakke SJ, Dahl A, Gécz J (2003)
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
J Neurol Neurosurg Psychiatry, 74 (4), 536-8
DOI 10.1136/jnnp.74.4.536, PubMed 12640086

Publications 2002

Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC (2002)
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
Neurology, 59 (3), 348-56
DOI 10.1212/wnl.59.3.348, PubMed 12177367

Strømme P, Bjørnstad PG, Ramstad K (2002)
Prevalence estimation of Williams syndrome
J Child Neurol, 17 (4), 269-71
DOI 10.1177/088307380201700406, PubMed 12088082

Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J (2002)
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Brain Dev, 24 (5), 266-8
DOI 10.1016/s0387-7604(02)00079-7, PubMed 12142061

Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J (2002)
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Nat Genet, 30 (4), 441-5
DOI 10.1038/ng862, PubMed 11889467

Publications 2001

Andersen WH, Rasmussen RK, Strømme P (2001)
Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children
Logoped Phoniatr Vocol, 26 (1), 2-9
PubMed 11432411

Publications 2000

Strømme P (2000)
Aetiology in severe and mild mental retardation: a population-based study of Norwegian children
Dev Med Child Neurol, 42 (2), 76-86
DOI 10.1017/s0012162200000165, PubMed 10698323

Strømme P (2000)
Epidemiological, genetic and neurological aspects of mental retardation: a Norwegian population-based study of children born between 1980 and 1985
Section for Child Neurology, Department of Paediatrics, The National Hospital, University of Oslo, [Oslo], 1 b. (flere pag.)
BIBSYS 00017467x, ISBN 82-7722-125-8

Strømme P, Diseth TH (2000)
Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study
Dev Med Child Neurol, 42 (4), 266-70
DOI 10.1017/s0012162200000451, PubMed 10795566

Strømme P, Magnus P (2000)
Correlations between socioeconomic status, IQ and aetiology in mental retardation: a population-based study of Norwegian children
Soc Psychiatry Psychiatr Epidemiol, 35 (1), 12-8
DOI 10.1007/s001270050003, PubMed 10741531

Strømme P, Thaulow E, Geiran O (2000)
Cardiac surgery in a girl with trisomy 13
Cardiol Young, 10 (6), 638-40
DOI 10.1017/s1047951100008945, PubMed 11117399

Publications 1999

Strømme P, Sundet K, Mørk C, Cassiman JJ, Fryns JP, Claes S (1999)
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
J Med Genet, 36 (5), 374-8
PubMed 10353782

Publications 1998

Rasmussen M, Strømme P (1998)
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Clin Dysmorphol, 7 (1), 61-3
PubMed 9546834

Strømme P (1998)
[Syndromes--correct diagnosis means better follow-up]
Tidsskr Nor Laegeforen, 118 (10), 1539
PubMed 9615578

Strømme P, Valvatne K (1998)
Mental retardation in Norway: prevalence and sub-classification in a cohort of 30037 children born between 1980 and 1985
Acta Paediatr, 87 (3), 291-6
DOI 10.1080/08035259850157345, PubMed 9560036

Tvrdik T, Marcus S, Hou SM, Fält S, Noori P, Podlutskaja N, Hanefeld F, Strømme P, Lambert B (1998)
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
Hum Genet, 103 (3), 311-8
DOI 10.1007/s004390050822, PubMed 9799086

Publications 1997

Bjursell C, Stibler H, Wahlström J, Kristiansson B, Skovby F, Strömme P, Blennow G, Martinsson T (1997)
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families
Genomics, 39 (3), 247-53
DOI 10.1006/geno.1996.4488, PubMed 9119361

Orstavik KH, Strømme P, Ek J, Torvik A, Skjeldal OH (1997)
Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
J Med Genet, 34 (10), 849-51
DOI 10.1136/jmg.34.10.849, PubMed 9350820

Strømme P, Andersen W (1997)
Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome
Clin Genet, 52 (2), 133
DOI 10.1111/j.1399-0004.1997.tb02532.x, PubMed 9298751

Strømme P, Månsson JE, Scott H, Skullerud K, Hovig T (1997)
Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage
Pediatr Neurol, 16 (2), 141-4
DOI 10.1016/s0887-8994(96)00298-6, PubMed 9090689

Publications 1996

Rasmussen RK, Andreassen AB, Strømme P, Hansen TW (1996)
Learning disabilities and language pathology in patients with galactosemia
Logoped Phoniatr Vocol, 21 (3-4), 157-62
DOI 10.3109/14015439609098884, PubMed 21275587

Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter DH, Orstavik KH (1996)
Unilateral cleft lip in a boy with Angelman syndrome
J Craniofac Genet Dev Biol, 16 (2), 122-5
PubMed 8773903

Strømme P, Sandboe F (1996)
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
Acta Ophthalmol Scand, 74 (1), 45-7
DOI 10.1111/j.1600-0420.1996.tb00680.x, PubMed 8689480

Publications 1995

Orderud WJ, Skjeldal OH, Strømme P (1995)
[Neuronal migration disorders. Radiological and clinical aspects]
Tidsskr Nor Laegeforen, 115 (16), 1952-6
PubMed 7638849

Orstavik KH, Strömme P, Spetalen S, Flage T, Westvik J, Vesterhus P, Skjeldal O (1995)
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?
Am J Med Genet, 59 (1), 92-5
DOI 10.1002/ajmg.1320590118, PubMed 8849019

Strømme P, Stokke O, Jellum E, Skjeldal OH, Baumgartner R (1995)
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
Clin Genet, 48 (1), 1-5
DOI 10.1111/j.1399-0004.1995.tb04045.x, PubMed 7586637

Publications 1994

Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J (1994)
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
Hum Mol Genet, 3 (11), 2037-42
PubMed 7874123

Skjeldal OH, Strømme P, Christensen E (1994)
[Adrenoleukodystrophy--clinical, biochemical and therapeutic aspects]
Tidsskr Nor Laegeforen, 114 (28), 3321-3
PubMed 7809891

Publications 1993

Fryns JP, Strømme P, van den Berghe H (1993)
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
Clin Genet, 44 (3), 149-51
DOI 10.1111/j.1399-0004.1993.tb03867.x, PubMed 8275574

Strøm EH, Strømme P, Westvik J, Pedersen SJ (1993)
Renal cysts in the carbohydrate-deficient glycoprotein syndrome
Pediatr Nephrol, 7 (3), 253-5
DOI 10.1007/BF00853211, PubMed 8518092

Strømme P, Dahl E, Flage T, Stene-Johansen H (1993)
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly
Clin Genet, 44 (4), 208-10
DOI 10.1111/j.1399-0004.1993.tb03881.x, PubMed 8261651

Strømme P, Knudtzon J, Westvik J, Traaholt L, Brandt-Hansen P (1993)
Cleft lip and palate, scoliosis, skeletal and cardiac malformations and other dysmorphic features in a child. Case report
Scand J Plast Reconstr Surg Hand Surg, 27 (1), 71-4
DOI 10.3109/02844319309080295, PubMed 8493488

Publications 1992

Strømme P, Skjeldal OH, Knudtzon J (1992)
[Mental retardation in children. Prevalence and etiology]
Tidsskr Nor Laegeforen, 112 (6), 749-51
PubMed 1561594

Publications 1991

Hald JK, Nakstad PH, Skjeldal OH, Strømme P (1991)
Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I
AJNR Am J Neuroradiol, 12 (3), 407-9
PubMed 2058483

JAEKEN J, HAGBERG B, STROMME P (1991)
CLINICAL PRESENTATION AND NATURAL COURSE OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
ACTA PAEDIATR SCAND (375), 6-13

Ruiters MH, van Spronsen EA, Skjeldal OH, Stromme P, Scholte HR, Pzyrembel H, Smit GP, Ruitenbeek W, Agsteribbe E (1991)
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders
J Inherit Metab Dis, 14 (1), 45-8
DOI 10.1007/BF01804387, PubMed 1861458

STROMME P, MAEHLEN J, STROM EH, TORVIK A (1991)
POSTMORTEM FINDINGS IN 2 PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
ACTA PAEDIATR SCAND (375), 55-62

Strømme P (1991)
The diagnosis of syndromes by use of a dysmorphology database
Acta Paediatr Scand, 80 (1), 106-9
DOI 10.1111/j.1651-2227.1991.tb11741.x, PubMed 2028781

Strømme P, Maehlen J, Strøm EH, Torvik A (1991)
[The carbohydrate deficient glycoprotein syndrome]
Tidsskr Nor Laegeforen, 111 (10), 1236-7
PubMed 2042132

Publications 1990

Strømme P, Ose L (1990)
[Identification of syndromes using a combined computer and video program]
Tidsskr Nor Laegeforen, 110 (9), 1085-7
PubMed 2184540