| 1. |
- Aad, G., et al.
(författare)
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- 2012
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Ingår i: Nuclear Physics, Section B. - : Elsevier BV. - 0550-3213 .- 1873-1562. ; 864:3, s. 341-381
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| 2. |
- Aad, G., et al.
(författare)
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- 2013
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- Aad, G., et al.
(författare)
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- 2013
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- Anderson, Beverley H., et al.
(författare)
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
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Tidskriftsartikel (refereegranskat)abstract
- Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
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| 19. |
- Livingston, John H, et al.
(författare)
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Leukoencephalopathy with Calcifications and Cysts : A Purely Neurological Disorder Distinct from Coats Plus
- 2014
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 45:3, s. 175-182
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Tidskriftsartikel (refereegranskat)abstract
- Objective With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. Patients and Methods A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described. Results The median age (range) at presentation was 10 months (range, 2 days-54 years). Of the 15 patients, 9 presented with epileptic seizures, 5 with motor abnormalities, and 1 with developmental delay. Motor abnormalities developed in 14 patients and cognitive problems in 13 patients. Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving periventricular, deep, and sometimes subcortical, regions. Cysts developed in the basal ganglia, thalamus, deep white matter, cerebellum, or brain stem. In unaffected areas, normal myelination was present. No patient demonstrated cerebral atrophy. Conclusion LCC shares the neuroradiological features of CP. However, LCC is a purely neurological disorder distinguished genetically by the absence of mutations in CTC1. The molecular cause(s) of LCC has (have) not yet been determined.
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| 20. |
- Åsman, Barbro, et al.
(författare)
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A Particle Consistent with the Higgs Boson Observed with the ATLAS Detector at the Large Hadron Collider
- 2012
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 338:6114, s. 1576-1582
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Tidskriftsartikel (refereegranskat)abstract
- Nearly 50 years ago, theoretical physicists proposed that a field permeates the universe and gives energy to the vacuum. This field was required to explain why some, but not all, fundamental particles have mass. Numerous precision measurements during recent decades have provided indirect support for the existence of this field, but one crucial prediction of this theory has remained unconfirmed despite 30 years of experimental searches: the existence of a massive particle, the standard model Higgs boson. The ATLAS experiment at the Large Hadron Collider at CERN has now observed the production of a new particle with a mass of 126 giga-electron volts and decay signatures consistent with those expected for the Higgs particle. This result is strong support for the standard model of particle physics, including the presence of this vacuum field. The existence and properties of the newly discovered particle may also have consequences beyond the standard model itself.
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| 21. |
- Aad, G., et al.
(författare)
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- 2013
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| 22. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 15
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| 23. |
- Aad, G., et al.
(författare)
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- 2013
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| 24. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: The European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6052. ; 73:1
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| 25. |
- Aad, G., et al.
(författare)
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- 2013
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| 26. |
- Aad, G., et al.
(författare)
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- 2012
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| 27. |
- Aad, G., et al.
(författare)
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- 2013
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| 28. |
- Aad, G., et al.
(författare)
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- 2012
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| 29. |
- Aad, G., et al.
(författare)
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- 2012
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| 30. |
- Aad, G., et al.
(författare)
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- 2012
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| 31. |
- Aad, G., et al.
(författare)
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- 2013
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| 32. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: The European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6052. ; 73:3
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| 33. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 15
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| 34. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 15
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| 35. |
- Aad, G., et al.
(författare)
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- 2013
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| 36. |
- Aad, G., et al.
(författare)
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- 2012
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| 37. |
- Aad, G., et al.
(författare)
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- 2012
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| 38. |
- Aad, G., et al.
(författare)
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- 2013
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| 39. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 8
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| 40. |
- Aad, G., et al.
(författare)
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- 2014
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| 41. |
- Aad, G., et al.
(författare)
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- 2012
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| 42. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 8
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| 43. |
- Aad, G., et al.
(författare)
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- 2013
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| 44. |
- Aad, G., et al.
(författare)
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- 2012
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| 45. |
- Aad, G., et al.
(författare)
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- 2013
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| 46. |
- Aad, G., et al.
(författare)
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- 2012
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Ingår i: The European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6052. ; 72:10
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| 47. |
- Aad, G., et al.
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- 2013
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| 48. |
- Aad, G., et al.
(författare)
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- 2013
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| 49. |
- Aad, G., et al.
(författare)
-
- 2013
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| 50. |
- Aad, G., et al.
(författare)
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- 2013
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