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Items: 1 to 50 of 197

1.

Cognitive reserve moderates cognitive outcome after mild traumatic brain injury.

Stenberg J, Håberg AK, Follestad T, Olsen A, Iverson GL, Terry DP, Karlsen RH, Saksvik SB, Karaliute M, Ek JAN, Skandsen T, Vik A.

Arch Phys Med Rehabil. 2019 Sep 25. pii: S0003-9993(19)31088-3. doi: 10.1016/j.apmr.2019.08.477. [Epub ahead of print]

2.

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Madsen AMH, Wibrand F, Lund AM, Ek J, Dunø M, Østergaard E.

JIMD Rep. 2019 Mar 14;46(1):35-45. doi: 10.1002/jmd2.12007. eCollection 2019 Mar.

3.

Dysmaturation of Somatostatin Interneurons Following Umbilical Cord Occlusion in Preterm Fetal Sheep.

Ardalan M, Svedin P, Baburamani AA, Supramaniam VG, Ek J, Hagberg H, Mallard C.

Front Physiol. 2019 May 22;10:563. doi: 10.3389/fphys.2019.00563. eCollection 2019.

4.

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi M, Wadt K, Ek J, Gerdes AM, Ostergaard E.

Hum Genome Var. 2019 Feb 22;6:10. doi: 10.1038/s41439-019-0041-2. eCollection 2019.

5.

Peripheral myeloid cells contribute to brain injury in male neonatal mice.

Smith PLP, Mottahedin A, Svedin P, Mohn CJ, Hagberg H, Ek J, Mallard C.

J Neuroinflammation. 2018 Oct 30;15(1):301. doi: 10.1186/s12974-018-1344-9.

6.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

7.

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Grímsdóttir S, Hove HB, Kreiborg S, Ek J, Johansen A, Darvann TA, Hermann NV.

Clin Dysmorphol. 2019 Jan;28(1):41-45. doi: 10.1097/MCD.0000000000000244. No abstract available.

PMID:
30256248
8.

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.

Eur J Med Genet. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27.

PMID:
29959045
9.

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.

Grønborg S, Risom L, Ek J, Larsen KB, Scheie D, Petkov Y, Larsen VA, Dunø M, Joensen F, Østergaard E.

Eur J Hum Genet. 2018 Oct;26(10):1512-1520. doi: 10.1038/s41431-018-0204-5. Epub 2018 Jun 19.

10.

A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.

Barington M, Risom L, Ek J, Uldall P, Ostergaard E.

Eur J Hum Genet. 2018 Sep;26(9):1388-1391. doi: 10.1038/s41431-018-0184-5. Epub 2018 May 24.

11.

γδT cells but not αβT cells contribute to sepsis-induced white matter injury and motor abnormalities in mice.

Zhang X, Rocha-Ferreira E, Li T, Vontell R, Jabin D, Hua S, Zhou K, Nazmi A, Albertsson AM, Sobotka K, Ek J, Thornton C, Hagberg H, Mallard C, Leavenworth JW, Zhu C, Wang X.

J Neuroinflammation. 2017 Dec 20;14(1):255. doi: 10.1186/s12974-017-1029-9.

12.

Magnesium induces preconditioning of the neonatal brain via profound mitochondrial protection.

Koning G, Leverin AL, Nair S, Schwendimann L, Ek J, Carlsson Y, Gressens P, Thornton C, Wang X, Mallard C, Hagberg H.

J Cereb Blood Flow Metab. 2019 Jun;39(6):1038-1055. doi: 10.1177/0271678X17746132. Epub 2017 Dec 5.

PMID:
29206066
13.

Effect of Neuroinflammation on Synaptic Organization and Function in the Developing Brain: Implications for Neurodevelopmental and Neurodegenerative Disorders.

Mottahedin A, Ardalan M, Chumak T, Riebe I, Ek J, Mallard C.

Front Cell Neurosci. 2017 Jul 11;11:190. doi: 10.3389/fncel.2017.00190. eCollection 2017.

14.

[Exome sequencing for syndrome diagnostics].

Østergaard E, Risom L, Ek J, Grønborg S, Dunø M, Skovby F.

Ugeskr Laeger. 2017 Apr 24;179(17). pii: V10160762. Review. Danish.

PMID:
28473029
15.

Systemic activation of Toll-like receptor 2 suppresses mitochondrial respiration and exacerbates hypoxic-ischemic injury in the developing brain.

Mottahedin A, Svedin P, Nair S, Mohn CJ, Wang X, Hagberg H, Ek J, Mallard C.

J Cereb Blood Flow Metab. 2017 Apr;37(4):1192-1198. doi: 10.1177/0271678X17691292. Epub 2017 Jan 1.

16.

The blood-tendon barrier: identification and characterisation of a novel tissue barrier in tendon blood vessels.

Lehner C, Gehwolf R, Ek JC, Korntner S, Bauer H, Bauer HC, Traweger A, Tempfer H.

Eur Cell Mater. 2016 May 26;31:296-311.

17.

Melatonin reduces excitotoxic blood-brain barrier breakdown in neonatal rats.

Moretti R, Zanin A, Pansiot J, Spiri D, Manganozzi L, Kratzer I, Favero G, Vasiljevic A, Rinaldi VE, Pic I, Massano D, D'Agostino I, Baburamani A, La Rocca MA, Rodella LF, Rezzani R, Ek J, Strazielle N, Ghersi-Egea JF, Gressens P, Titomanlio L.

Neuroscience. 2015 Dec 17;311:382-97. doi: 10.1016/j.neuroscience.2015.10.044. Epub 2015 Nov 2. Erratum in: Neuroscience. 2016 Feb 19;315():296.

PMID:
26542996
18.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of EuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS.

Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5.

19.

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome.

Drivenes B, Born AP, Ek J, Dunoe M, Uldall PV.

Eur J Paediatr Neurol. 2015 Nov;19(6):719-21. doi: 10.1016/j.ejpn.2015.07.010. Epub 2015 Jul 29.

PMID:
26278497
20.

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Wadt KA, Aoude LG, Krogh L, Sunde L, Bojesen A, Grønskov K, Wartacz N, Ek J, Tolstrup-Andersen M, Klarskov-Andersen M, Borg Å, Heegaard S, Kiilgaard JF, Hansen TV, Klein K, Jönsson G, Drzewiecki KT, Dunø M, Hayward NK, Gerdes AM.

PLoS One. 2015 Mar 24;10(3):e0122662. doi: 10.1371/journal.pone.0122662. eCollection 2015.

21.

Outcome of men and women after atrial fibrillation and stroke.

Jönsson AC, Ek J, Kremer C.

Acta Neurol Scand. 2015 Aug;132(2):125-31. doi: 10.1111/ane.12366. Epub 2015 Feb 4.

PMID:
25649996
22.

A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.

Östensson M, Montén C, Bacelis J, Gudjonsdottir AH, Adamovic S, Ek J, Ascher H, Pollak E, Arnell H, Browaldh L, Agardh D, Wahlström J, Nilsson S, Torinsson-Naluai Å.

PLoS One. 2013 Aug 2;8(8):e70174. doi: 10.1371/journal.pone.0070174. Print 2013.

23.

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE, Nielsen TT.

Eur J Hum Genet. 2013 Jun;21(6):626-9. doi: 10.1038/ejhg.2012.231. Epub 2012 Oct 10.

24.

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brøndum-Nielsen K, Grønskov K.

BMC Med Genet. 2012 Aug 2;13:65. doi: 10.1186/1471-2350-13-65.

25.

Prevalence, awareness, treatment, and control of hypertension: rule of thirds in the Skaraborg project.

Lindblad U, Ek J, Eckner J, Larsson CA, Shan G, Råstam L.

Scand J Prim Health Care. 2012 Jun;30(2):88-94. doi: 10.3109/02813432.2012.684207.

26.

Imidazolopiperazines: lead optimization of the second-generation antimalarial agents.

Nagle A, Wu T, Kuhen K, Gagaring K, Borboa R, Francek C, Chen Z, Plouffe D, Lin X, Caldwell C, Ek J, Skolnik S, Liu F, Wang J, Chang J, Li C, Liu B, Hollenbeck T, Tuntland T, Isbell J, Chuan T, Alper PB, Fischli C, Brun R, Lakshminarayana SB, Rottmann M, Diagana TT, Winzeler EA, Glynne R, Tully DC, Chatterjee AK.

J Med Chem. 2012 May 10;55(9):4244-73. doi: 10.1021/jm300041e. Epub 2012 Apr 23.

27.

Imidazolopiperazines: hit to lead optimization of new antimalarial agents.

Wu T, Nagle A, Kuhen K, Gagaring K, Borboa R, Francek C, Chen Z, Plouffe D, Goh A, Lakshminarayana SB, Wu J, Ang HQ, Zeng P, Kang ML, Tan W, Tan M, Ye N, Lin X, Caldwell C, Ek J, Skolnik S, Liu F, Wang J, Chang J, Li C, Hollenbeck T, Tuntland T, Isbell J, Fischli C, Brun R, Rottmann M, Dartois V, Keller T, Diagana T, Winzeler E, Glynne R, Tully DC, Chatterjee AK.

J Med Chem. 2011 Jul 28;54(14):5116-30. doi: 10.1021/jm2003359. Epub 2011 Jun 23.

PMID:
21644570
28.

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J.

BMC Med Genet. 2011 Apr 4;12:49. doi: 10.1186/1471-2350-12-49.

29.

Delivering drugs into the brain: barriers and possibilities.

Habgood M, Ek J.

Ther Deliv. 2010 Oct;1(4):483-8. No abstract available.

PMID:
22833960
30.

Discovery of novel 1H-imidazol-2-yl-pyrimidine-4,6-diamines as potential antimalarials.

Deng X, Nagle A, Wu T, Sakata T, Henson K, Chen Z, Kuhen K, Plouffe D, Winzeler E, Adrian F, Tuntland T, Chang J, Simerson S, Howard S, Ek J, Isbell J, Tully DC, Chatterjee AK, Gray NS.

Bioorg Med Chem Lett. 2010 Jul 15;20(14):4027-31. doi: 10.1016/j.bmcl.2010.05.095. Epub 2010 Jun 2.

31.

Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study.

Munch IC, Ek J, Kessel L, Sander B, Almind GJ, Brøndum-Nielsen K, Linneberg A, Larsen M.

Invest Ophthalmol Vis Sci. 2010 May;51(5):2317-21. doi: 10.1167/iovs.09-4482. Epub 2009 Dec 10.

PMID:
20007824
32.

Pain exposure physical therapy may be a safe and effective treatment for longstanding complex regional pain syndrome type 1: a case series.

Ek JW, van Gijn JC, Samwel H, van Egmond J, Klomp FP, van Dongen RT.

Clin Rehabil. 2009 Dec;23(12):1059-66. doi: 10.1177/0269215509339875.

PMID:
19906762
33.

Cell-based optimization of novel benzamides as potential antimalarial leads.

Wu T, Nagle A, Sakata T, Henson K, Borboa R, Chen Z, Kuhen K, Plouffe D, Winzeler E, Adrian F, Tuntland T, Chang J, Simerson S, Howard S, Ek J, Isbell J, Deng X, Gray NS, Tully DC, Chatterjee AK.

Bioorg Med Chem Lett. 2009 Dec 15;19(24):6970-4. doi: 10.1016/j.bmcl.2009.10.050. Epub 2009 Oct 29.

34.

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.

Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, Molven A, Njølstad PR.

Hum Genet. 2010 Jan;127(1):55-64. doi: 10.1007/s00439-009-0740-8. Epub 2009 Sep 17.

PMID:
19760265
35.

Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort.

Amundsen SS, Rundberg J, Adamovic S, Gudjónsdóttir AH, Ascher H, Ek J, Nilsson S, Lie BA, Naluai AT, Sollid LM.

Genes Immun. 2010 Jan;11(1):79-86. doi: 10.1038/gene.2009.67. Epub 2009 Aug 20.

PMID:
19693089
36.

Association between genotypes and phenotypes in coeliac disease.

Gudjónsdóttir AH, Nilsson S, Naluai AT, Ek J, Amundsen SS, Wahlström J, Ascher H.

J Pediatr Gastroenterol Nutr. 2009 Aug;49(2):165-9. doi: 10.1097/MPG.0b013e318196c362.

PMID:
19543113
37.

Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young.

Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V.

J Clin Endocrinol Metab. 2009 Jun;94(6):1959-65. doi: 10.1210/jc.2008-2371. Epub 2009 Mar 31.

PMID:
19336507
38.

Functional SOCS1 polymorphisms are associated with variation in obesity in whites.

Gylvin T, Ek J, Nolsøe R, Albrechtsen A, Andersen G, Bergholdt R, Brorsson C, Bang-Berthelsen CH, Hansen T, Karlsen AE, Billestrup N, Borch-Johnsen K, Jørgensen T, Pedersen O, Mandrup-Poulsen T, Nerup J, Pociot F.

Diabetes Obes Metab. 2009 Mar;11(3):196-203. doi: 10.1111/j.1463-1326.2008.00900.x.

PMID:
19215277
39.

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T.

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5.

PMID:
19060277
40.

The PPAR gamma 2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy.

Jorsal A, Tarnow L, Lajer M, Ek J, Hansen T, Pedersen O, Parving HH.

Mol Genet Metab. 2008 Jul;94(3):347-51. doi: 10.1016/j.ymgme.2008.03.014. Epub 2008 May 7.

PMID:
18467141
41.

Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families.

Adamovic S, Amundsen SS, Lie BA, Gudjónsdóttir AH, Ascher H, Ek J, van Heel DA, Nilsson S, Sollid LM, Torinsson Naluai A.

Genes Immun. 2008 Jun;9(4):364-7. doi: 10.1038/gene.2008.27. Epub 2008 Apr 17.

PMID:
18418394
42.

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

Gonsorcíková L, Průhová S, Cinek O, Ek J, Pelikánová T, Jørgensen T, Eiberg H, Pedersen O, Hansen T, Lebl J.

Pediatr Diabetes. 2008 Aug;9(4 Pt 2):367-72. doi: 10.1111/j.1399-5448.2008.00379.x. Epub 2008 Mar 5.

PMID:
18331410
43.

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K.

Orphanet J Rare Dis. 2007 Nov 2;2:43. Review.

44.

Fine mapping study in Scandinavian families suggests association between coeliac disease and haplotypes in chromosome region 5q32.

Adamovic S, Amundsen SS, Lie BA, Hellqvist A, Gudjónsdóttir AH, Ek J, Nilsson S, Wahlström J, Ascher H, Sollid LM, Naluai AT.

Tissue Antigens. 2008 Jan;71(1):27-34. Epub 2007 Oct 30.

PMID:
17971050
45.

A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish/Norwegian celiac disease families.

Amundsen SS, Adamovic S, Hellqvist A, Nilsson S, Gudjónsdóttir AH, Ascher H, Ek J, Larsson K, Wahlström J, Lie BA, Sollid LM, Naluai AT.

Eur J Hum Genet. 2007 Sep;15(9):980-7. Epub 2007 Jun 6.

46.

Variation in the peroxisome proliferator-activated receptor delta gene in relation to common metabolic traits in 7,495 middle-aged white people.

Grarup N, Albrechtsen A, Ek J, Borch-Johnsen K, Jørgensen T, Schmitz O, Hansen T, Pedersen O.

Diabetologia. 2007 Jun;50(6):1201-8. Epub 2007 Apr 13.

PMID:
17431579
47.

Six novel mutations in the GCK gene in MODY patients.

Pinterova D, Ek J, Kolostova K, Pruhova S, Novota P, Romzova M, Feigerlova E, Cerna M, Lebl J, Pedersen O, Hansen T.

Clin Genet. 2007 Jan;71(1):95-6. No abstract available.

PMID:
17204055
48.

FOXP3 polymorphisms in type 1 diabetes and coeliac disease.

Bjørnvold M, Amundsen SS, Stene LC, Joner G, Dahl-Jørgensen K, Njølstad PR, Ek J, Ascher H, Gudjònsdòttir AH, Lie BA, Skinningsrud B, Akselsen HE, Rønningen KS, Sollid LM, Undlien DE.

J Autoimmun. 2006 Sep;27(2):140-4. Epub 2006 Sep 20.

PMID:
16996248
49.

Association between neuromedin U gene variants and overweight and obesity.

Hainerová I, Torekov SS, Ek J, Finková M, Borch-Johnsen K, Jørgensen T, Madsen OD, Lebl J, Hansen T, Pedersen O.

J Clin Endocrinol Metab. 2006 Dec;91(12):5057-63. Epub 2006 Sep 19.

PMID:
16984985
50.

Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects.

Grarup N, Urhammer SA, Ek J, Albrechtsen A, Glümer C, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O.

Diabetologia. 2006 Sep;49(9):2097-104. Epub 2006 Jul 25.

PMID:
16865358

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