A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Rydning, S. L., Dudesek, A., Rimmele, F., Funke, C., Krüger, S., Biskup, S., Vigeland, M. D., Hjorthaug, H. S., Sejersted, Y., Tallaksen, C., Selmer, K. K., Kamm, C.
Published in European journal of neurology (01.07.2018)
Published in European journal of neurology (01.07.2018)
Get full text
Journal Article
Sex-specific disease modifiers in juvenile myoclonic epilepsy
Shakeshaft, Amy, Panjwani, Naim, Collingwood, Amber, Crudgington, Holly, Hall, Anna, Andrade, Danielle M, Beier, Christoph P, Fong, Choong Yi, Gardella, Elena, Gesche, Joanna, Greenberg, David A, Hamandi, Khalid, Koht, Jeanette, Lim, Kheng Seang, Møller, Rikke S, Ng, Ching Ching, Orsini, Alessandro, Rees, Mark I, Rubboli, Guido, Selmer, Kaja K, Striano, Pasquale, Syvertsen, Marte, Thomas, Rhys H, Zarubova, Jana, Richardson, Mark P, Strug, Lisa J, Pal, Deb K
Published in Scientific reports (21.02.2022)
Published in Scientific reports (21.02.2022)
Get full text
Journal Article
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
Gilfillan, Gregor D., Selmer, Kaja K., Roxrud, Ingrid, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald, Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
Get full text
Journal Article
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
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
Published in Brain (London, England : 1878) (01.04.2019)
Published in Brain (London, England : 1878) (01.04.2019)
Get full text
Journal Article
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Mero, I-L, Mørk, H H, Sheng, Y, Blomhoff, A, Opheim, G L, Erichsen, Aa, Vigeland, M D, Selmer, K K
Published in Human molecular genetics (01.10.2017)
Published in Human molecular genetics (01.10.2017)
Get full text
Journal Article
Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway—a Questionnaire Study
Cockerell, Ine, Guenin, Michel, Heimdal, Ketil, Bjørnvold, Marit, Selmer, Kaja K, Rouvière, Olivier
Published in Urology (Ridgewood, N.J.) (01.06.2017)
Published in Urology (Ridgewood, N.J.) (01.06.2017)
Get full text
Journal Article
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F
Published in European journal of human genetics : EJHG (01.05.2017)
Published in European journal of human genetics : EJHG (01.05.2017)
Get full text
Journal Article
No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank
Boen, Rune, Kaufmann, Tobias, Frei, Oleksandr, van der Meer, Dennis, Djurovic, Srdjan, Andreassen, Ole A, Selmer, Kaja K, Alnæs, Dag, Sønderby, Ida E
Published in Translational psychiatry (18.02.2023)
Published in Translational psychiatry (18.02.2023)
Get full text
Journal Article
Longitudinal changes of serum cytokines in patients with chronic low back pain and Modic changes
Gjefsen, E., Gervin, K., Bråten, L.C.H., Goll, G.L., Aass, H.C.D., Schistad, E.I., Wigemyr, M., Pedersen, L.M., Skouen, J.S., Vigeland, M.D., Selmer, K.K., Storheim, K., Zwart, J.A.
Published in Osteoarthritis and cartilage (01.04.2023)
Published in Osteoarthritis and cartilage (01.04.2023)
Get full text
Journal Article
Stress biomarkers in adult patients with drug resistant epilepsy on a modified Atkins diet - a prospective study
Molteberg, Ellen, Thorsby, Per M, Kverneland, Magnhild, Iversen, Per Ole, Selmer, Kaja K, Hofoss, Dag, Nakken, Karl O, Taubøll, Erik
Published in Epilepsia open (01.12.2023)
Published in Epilepsia open (01.12.2023)
Get full text
Journal Article
Differential Glial Activation in Early Epileptogenesis-Insights From Cell-Specific Analysis of DNA Methylation and Gene Expression in the Contralateral Hippocampus
Berger, Toni C, Vigeland, Magnus D, Hjorthaug, Hanne S, Nome, Cecilie G, Taubøll, Erik, Selmer, Kaja K, Heuser, Kjell
Published in Frontiers in neurology (16.11.2020)
Published in Frontiers in neurology (16.11.2020)
Get full text
Journal Article
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway
Stenshorne, Ida, Syvertsen, Marte, Ramm-Pettersen, Anette, Henning, Susanne, Weatherup, Elisabeth, Bjørnstad, Alf, Brüggemann, Natalia, Spetalen, Torstein, Selmer, Kaja K., Koht, Jeanette
Published in Frontiers in pediatrics (01.08.2022)
Published in Frontiers in pediatrics (01.08.2022)
Get full text
Journal Article
Modified Atkins diet may reduce serum concentrations of antiepileptic drugs
Kverneland, M., Taubøll, E., Selmer, K. K., Iversen, P. O., Nakken, K. O.
Published in Acta neurologica Scandinavica (01.03.2015)
Published in Acta neurologica Scandinavica (01.03.2015)
Get full text
Journal Article
Parental SCN1A mutation mosaicism in familial Dravet syndrome
Selmer, KK, Eriksson, A-S, Brandal, K, Egeland, T, Tallaksen, C, Undlien, DE
Published in Clinical genetics (01.10.2009)
Published in Clinical genetics (01.10.2009)
Get full text
Journal Article
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
Wiedmann, Markus K.H., Steinsvåg, Ingunn V., Dinh, Tovy, Vigeland, Magnus D., Larsson, Pål G., Hjorthaug, Hanne, Sheng, Ying, Mero, Inger-Lise, Selmer, Kaja K.
Published in Brain & spine (01.01.2023)
Published in Brain & spine (01.01.2023)
Get full text
Journal Article
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Rajan, Deepa S, Kour, Sukhleen, Fortuna, Tyler R, Cousin, Margot A, Barnett, Sarah S, Niu, Zhiyv, Babovic-Vuksanovic, Dusica, Klee, Eric W, Kirmse, Brian, Innes, Micheil, Rydning, Siri Lynne, Selmer, Kaja K, Vigeland, Magnus Dehli, Erichsen, Anne Kjersti, Nemeth, Andrea H, Millan, Francisca, DeVile, Catherine, Fawcett, Katherine, Legendre, Adrien, Sims, David, Schnekenberg, Ricardo Parolin, Burglen, Lydie, Mercier, Sandra, Bakhtiari, Somayeh, Francisco-Velilla, Rosario, Embarc-Buh, Azman, Martinez-Salas, Encarnacion, Wigby, Kristen, Lenberg, Jerica, Friedman, Jennifer R, Kruer, Michael C, Pandey, Udai Bhan
Published in Frontiers in cell and developmental biology (28.02.2022)
Published in Frontiers in cell and developmental biology (28.02.2022)
Get full text
Journal Article
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Rydning, S. L., Wedding, I. M., Koht, J., Chawla, M., Øye, A.-M., Sheng, Y., Vigeland, M. D., Selmer, K. K., Tallaksen, C. M. E.
Published in European journal of neurology (01.04.2016)
Published in European journal of neurology (01.04.2016)
Get full text
Journal Article