OpenURL Connection Search

Select item for more details and to access through your institution.

Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06324-2
By:
- 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.
Publication type:
Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0
By:
- Heimdal, Ketil;
- Sanchez-Guixé, Monica;
- Aukrust, Ingvild;
- Bollerslev, Jens;
- Bruland, Ove;
- Jablonski, Greg Eigner;
- Erichsen, Anne Kjersti;
- Gude, Einar;
- Koht, Jeanette A.;
- Erdal, Sigrid;
- Fiskerstrand, Torunn;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Bjørkhaug, Lise;
- Tallaksen, Chantal M. E.;
- Knappskog, Per M.;
- Johansson, Stefan
Publication type:
Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Published in:
2014
By:
- Heimdal, Ketil;
- Sanchez-Guixé, Monica;
- Aukrust, Ingvild;
- Bollerslev, Jens;
- Bruland, Ove;
- Jablonski, Greg Eigner;
- Erichsen, Anne Kjersti;
- Gude, Einar;
- Koht, Jeanette A;
- Erdal, Sigrid;
- Fiskerstrand, Torunn;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Bjørkhaug, Lise;
- Tallaksen, Chantal M E;
- Knappskog, Per M;
- Johansson, Stefan
Publication type:
journal article
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
Prevalence and etiology of epilepsy in a Norwegian county-A population based study.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 5, p. 699, doi. 10.1111/epi.12972
By:
- Syvertsen, Marte;
- Nakken, Karl Otto;
- Edland, Astrid;
- Hansen, Gunnar;
- Hellum, Morten Kristoffer;
- Koht, Jeanette
Publication type:
Article
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086340
By:
- Wedding, Iselin Marie;
- Koht, Jeanette;
- Tran, Gia Tuong;
- Misceo, Doriana;
- Selmer, Kaja Kristine;
- Holmgren, Asbjørn;
- Frengen, Eirik;
- Bindoff, Laurence;
- Tallaksen, Chantal M. E.;
- Tzoulis, Charalampos
Publication type:
Article
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm.
Published in:
BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-186
By:
- Wedding, Iselin Marie;
- Koht, Jeanette;
- Dietrichs, Espen;
- Landr∅, Nils Inge;
- Tallaksen, Chantal ME
Publication type:
Article
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm.
Published in:
2013
By:
- Wedding, Iselin Marie;
- Koht, Jeanette;
- Dietrichs, Espen;
- Landrø, Nils Inge;
- Tallaksen, Chantal Me;
- Tallaksen, Chantal M E
Publication type:
journal article
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Published in:
Human Genetics, 2015, v. 134, n. 6, p. 511, doi. 10.1007/s00439-015-1536-7
By:
- Tesson, Christelle;
- Koht, Jeanette;
- Stevanin, Giovanni
Publication type:
Article
Predictors of high school dropout, anxiety, and depression in genetic generalized epilepsy.
Published in:
Epilepsia Open, 2020, v. 5, n. 4, p. 611, doi. 10.1002/epi4.12434
By:
- Syvertsen, Marte;
- Vasantharajan, Samitha;
- Moth, Thea;
- Enger, Ulla;
- Koht, Jeanette
Publication type:
Article
Epilepsy at different ages—Etiologies in a Norwegian population.
Published in:
Epilepsia Open, 2019, v. 4, n. 1, p. 176, doi. 10.1002/epi4.12292
By:
- Dahl‐Hansen, Eline;
- Koht, Jeanette;
- Syvertsen, Marte
Publication type:
Article
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 6, p. 1577, doi. 10.1093/brain/awp056
By:
- Erichsen, Anne Kjersti;
- Koht, Jeanette;
- Stray-Pedersen, Asbjørg;
- Abdelnoor, Michael;
- Tallaksen, Chantal M. E.
Publication type:
Article
Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 1, p. 105, doi. 10.1111/epi.13613
By:
- Syvertsen, Marte;
- Hellum, Morten Kristoffer;
- Hansen, Gunnar;
- Edland, Astrid;
- Nakken, Karl Otto;
- Selmer, Kaja Kristine;
- Koht, Jeanette
Publication type:
Article
Trait impulsivity in Juvenile Myoclonic Epilepsy.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 138, doi. 10.1002/acn3.51255
By:
- Shakeshaft, Amy;
- Panjwani, Naim;
- McDowall, Robert;
- Crudgington, Holly;
- Peña Ceballos, Javier;
- Andrade, Danielle M.;
- Beier, Christoph P.;
- Fong, Choong Yi;
- Gesche, Joanna;
- Greenberg, David A.;
- Hamandi, Khalid;
- Koht, Jeanette;
- Lim, Kheng Seang;
- Orsini, Alessandro;
- Rees, Mark I.;
- Rubboli, Guido;
- Selmer, Kaja K.;
- Smith, Anna B.;
- Striano, Pasquale;
- Syvertsen, Marte
Publication type:
Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
By:
- Keller, Mareike;
- Brennenstuhl, Heiko;
- Kuseyri Hübschmann, Oya;
- Manti, Filippo;
- Julia Palacios, Natalia Alexandra;
- Friedman, Jennifer;
- Yıldız, Yılmaz;
- Koht, Jeanette Aimee;
- Wong, Suet‐Na;
- Zafeiriou, Dimitrios I.;
- López‐Laso, Eduardo;
- Pons, Roser;
- Kulhánek, Jan;
- Jeltsch, Kathrin;
- Serrano‐Lomelin, Jesus;
- Garbade, Sven F.;
- Opladen, Thomas;
- Goez, Helly;
- Burlina, Alberto;
- Cortès‐Saladelafont, Elisenda
Publication type:
Article
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1070, doi. 10.1002/jimd.12360
By:
- Kuseyri Hübschmann, Oya;
- Mohr, Alexander;
- Friedman, Jennifer;
- Manti, Filippo;
- Horvath, Gabriella;
- Cortès‐Saladelafont, Elisenda;
- Mercimek‐Andrews, Saadet;
- Yildiz, Yilmaz;
- Pons, Roser;
- Kulhánek, Jan;
- Oppebøen, Mari;
- Koht, Jeanette Aimee;
- Podzamczer‐Valls, Inés;
- Domingo‐Jimenez, Rosario;
- Ibáñez, Salvador;
- Alcoverro‐Fortuny, Oscar;
- Gómez‐Alemany, Teresa;
- Castro, Pedro;
- Alfonsi, Chiara;
- Zafeiriou, Dimitrios I.
Publication type:
Article
Antiepileptic drug withdrawal in juvenile myoclonic epilepsy.
Published in:
Acta Neurologica Scandinavica, 2019, v. 139, n. 2, p. 192, doi. 10.1111/ane.13042
By:
- Syvertsen, Marte;
- Fløgstad, Ida;
- Enger, Ulla;
- Landmark, Cecilie Johannessen;
- Koht, Jeanette
Publication type:
Article
Iatrogen botulisme.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2024, v. 144, n. 2, p. 128
By:
- Hagberg, Guri;
- Skytøen, Emilie Ranheim;
- Nakstad, Ingvild;
- Sullivan, Kristin O';
- Koht, Jeanette;
- Bjordal Johansen, Tone Kristin;
- Feruglio, Siri L.;
- Frøyshov, Sten
Publication type:
Article
En kvinne i 40-årene med smerter i øret.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2024, v. 144, n. 1, p. 36
By:
- Døving, Mats;
- Stray, August;
- Anandan, Steven;
- Eide, Per Kristian;
- Skogen, Karoline;
- Koht, Jeanette
Publication type:
Article
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Published in:
PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186571
By:
- Iqbal, Zafar;
- Rydning, Siri L.;
- Wedding, Iselin M.;
- Koht, Jeanette;
- Pihlstrøm, Lasse;
- Rengmark, Aina H.;
- Henriksen, Sandra P.;
- Tallaksen, Chantal M. E.;
- Toft, Mathias
Publication type:
Article
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Published in:
PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174667
By:
- Iqbal, Zafar;
- Rydning, Siri L.;
- Wedding, Iselin M.;
- Koht, Jeanette;
- Pihlstrøm, Lasse;
- Rengmark, Aina H.;
- Henriksen, Sandra P.;
- Tallaksen, Chantal M. E.;
- Toft, Mathias
Publication type:
Article
Doparesponsive dystonier.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2018, v. 138, n. 19, p. 1842
By:
- RANDBY, HANS;
- SALVADOR, CATHRIN LYTOMT;
- OPPEBØEN, MARI;
- SKOGSEID, INGER MARIE;
- KOHT, JEANETTE
Publication type:
Article
Fragilt X-assosiert tremor-ataksi-syndrom.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2017, v. 137, n. 20, p. 1607
By:
- HOEM, GRY;
- KOHT, JEANETTE
Publication type:
Article
Mannen som falt om i åkeren.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2017, v. 137, n. 12/13, p. 890
By:
- ØDEMARK, ELIN;
- KOHT, JEANETTE
Publication type:
Article
Medikamentutløst dystoni.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2016, v. 136, n. 20, p. 1730, doi. 10.4045/tidsskr.16.0366
By:
- Solberg, Marianne;
- Koht, Jeanette
Publication type:
Article
Klinisk neurologi og neurokirurgi.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2016, v. 136, n. 3, p. 246, doi. 10.4045/tidsskr.15.1201
By:
- Koht, Jeanette
Publication type:
Article
Medfødte speilbevegelser i hender.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2015, v. 135, n. 20, p. 1852, doi. 10.4045/tidsskr.15.0733
By:
- Gerstner, Thorsten;
- Moland, Siri;
- Koht, Jeanette
Publication type:
Article
Forekomst av epilepsi i de nordiske landene.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2015, v. 135, n. 18, p. 1641, doi. 10.4045/tidsskr.15.0454
By:
- Syvertsen, Marte;
- Koht, Jeanette;
- Nakken, Karl O.
Publication type:
Article

Found: 28