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Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Published in:
2019
By:
- Rydning, Siri L;
- Koht, Jeanette;
- Sheng, Ying;
- Sowa, Piotr;
- Hjorthaug, Hanne S;
- Wedding, Iselin M;
- Erichsen, Anne Kjersti;
- Hovden, Inger Anette;
- Backe, Paul H;
- Tallaksen, Chantal M E;
- Vigeland, Magnus D;
- Selmer, Kaja K
Publication type:
Letter
Structural insight into repair of alkylated DNA by a new superfamily of DNA glycosylases comprising HEAT-like repeats.
Published in:
Nucleic Acids Research, 2007, v. 35, n. 7, p. 2451, doi. 10.1093/nar/gkm039
By:
- Dalhus, Bjørn;
- Helle, Ina Høydal;
- Backe, Paul H.;
- Alseth, Ingrun;
- Rognes, Torbjørn;
- Bjørås, Magnar;
- Laerdahl, Jon K.
Publication type:
Article
Structures of endonuclease V with DNA reveal initiation of deaminated adenine repair.
Published in:
Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 138, doi. 10.1038/nsmb.1538
By:
- Dalhus, Bjørn;
- Arvai, Andrew S;
- Rosnes, Ida;
- Olsen, Øyvind E;
- Backe, Paul H;
- Alseth, Ingrun;
- Gao, Honghai;
- Cao, Weiguo;
- Tainer, John A;
- Bjørås, Magnar
Publication type:
Article
Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA).
Published in:
PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034838
By:
- Søberg, Kristoffer;
- Larsen, Anja C. V.;
- Diskar, Mandy;
- Backe, Paul H.;
- Bjørås, Magnar;
- Jahnsen, Tore;
- Laerdahl, Jon K.;
- Rognes, Torbjørn;
- Herberg, Friedrich W.;
- Skålhegg, Bjørn S.
Publication type:
Article
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 159, doi. 10.1002/jimd.12601
By:
- Radenkovic, Silvia;
- Laerdahl, Jon K.;
- Backe, Paul H.;
- Morava, Eva
Publication type:
Article
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Published in:
Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 604, doi. 10.1002/mgg3.237
By:
- Sorte, Hanne S.;
- Osnes, Liv T.;
- Fevang, Børre;
- Aukrust, Pål;
- Erichsen, Hans C.;
- Backe, Paul H.;
- Abrahamsen, Tore G.;
- Kittang, Ole B.;
- Øverland, Torstein;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Vigeland, Magnus D.;
- Samarakoon, Pubudu;
- Gambin, Tomasz;
- Akdemir, Zeynep H. C.;
- Gibbs, Richard A.;
- Rødningen, Olaug K.;
- Lyle, Robert;
- Lupski, James R.;
- Stray ‐ Pedersen, Asbjørg
Publication type:
Article
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1031, doi. 10.1093/hmg/ddx072
By:
- Rydning, Siri L.;
- Backe, Paul H.;
- Sousa, Mirta M. L.;
- Iqbal, Zafar;
- Øye, Ane-Marte;
- Ying Sheng;
- Mingyi Yang;
- Xiaolin Lin;
- Slupphaug, Geir;
- Nordenmark, Tonje H.;
- Vigeland, Magnus D.;
- Bjørås, Magnar;
- Tallaksen, Chantal M.;
- Selmer, Kaja K.
Publication type:
Article

Found: 7

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Structural insight into repair of alkylated DNA by a new superfamily of DNA glycosylases comprising HEAT-like repeats.

Structures of endonuclease V with DNA reveal initiation of deaminated adenine repair.

Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA).

The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.

Novel UCHL1 mutations reveal new insights into ubiquitin processing.