Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rikke Steensbjerre Møller"'
Autor:
Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller
Publikováno v:
EBioMedicine, Vol 106, Iss , Pp 105236- (2024)
Summary: Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABAA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies.
Externí odkaz:
https://doaj.org/article/1f75a6fe61cf4a01b76139af961cda76
Autor:
Shai Kellner, Abeer Abbasi, Ido Carmi, Ronit Heinrich, Tali Garin-Shkolnik, Tova Hershkovitz, Moshe Giladi, Yoni Haitin, Katrine M Johannesen, Rikke Steensbjerre Møller, Shai Berlin
Publikováno v:
eLife, Vol 10 (2021)
The N-methyl-D-aspartate receptors (NMDARs; GluNRS) are glutamate receptors, commonly located at excitatory synapses. Mutations affecting receptor function often lead to devastating neurodevelopmental disorders. We have identified two toddlers with d
Externí odkaz:
https://doaj.org/article/b7a463d386444368ab21bae7d74b7c3b
Autor:
Janni Majgaard, Jensen, Ulla Schierup, Nielsen, Allan, Bayat, Malene Bøgehus, Rasmussen, Rikke Steensbjerre, Møller, Anne Marie, Bisgaard, Trine Bjørg, Hammer
Publikováno v:
Ugeskrift for laeger. 184(34)
Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. A
Autor:
Stephanie, Boets, Katrine M, Johannesen, Anne, Destree, Filippo, Manti, Georgia, Ramantani, Gaetan, Lesca, Laurent, Vercueil, Mary Kay, Koenig, Pasquale, Striano, Rikke Steensbjerre, Møller, Edward, Cooper, Sarah, Weckhuysen
Publikováno v:
Journal of medical genetics. 59(6)
PathogenicWe recruited 13 adults (between 18 years and 45 years of age) withWhile most patients had daily seizures at seizure onset, seizure frequency declined or remitted during childhood and adulthood. The most common seizure type was tonic seizure
Publikováno v:
Ugeskrift for laeger. 175(50A)
Glucose transporter-1 deficiency syndrome (GLUT1-DS) is caused by a decreased function of the glucose transporter GLUT1 protein, which is located in the blood brain barrier. This leads to inadequate glucose levels for brain metabolism and can cause v
Autor:
Lars Kjærsgaard, Hansen, Lilian Bomme, Ousager, Rikke Steensbjerre, Møller, Peter V, Uldall, Helle, Hjalgrim
Publikováno v:
Ugeskrift for laeger. 174(17)
Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes shoul
Publikováno v:
Ugeskrift for laeger. 173(36)
Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract