Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Hans Atli Dahl"'
Autor:
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F. Hughes, Ruth E. Williams, Line H. G. Larsen, Qin Hao, Hans Atli Dahl, Rikke S. Møller, Deb K. Pal
Publikováno v:
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
Genetic screening: actionable information for epilepsy patients and clinicians Screening for epilepsy-related gene variants can lead to effective, personalized treatment plans while reducing costs. UK and Danish scientists, led by Deb Pal, King’s C
Externí odkaz:
https://doaj.org/article/fd1d22dfee3c4f5984bcd5e51f0e638b
Autor:
Angel Aledo-Serrano, Adrián Valls-Carbó, Christina D. Fenger, Gudrun Groeppel, Till Hartlieb, Irene Pascual, Erika Herraez, Borja Cabal, Irene García-Morales, Rafael Toledano, Marcelo Budke, Álvaro Beltran-Corbellini, Sara Baldassari, Roland Coras, Katja Kobow, David M. Herrera, Antonio del Barrio, Hans Atli Dahl, Isabel del Pino, Stéphanie Baulac, Ingmar Blumcke, Rikke S. Møller, Antonio Gil-Nagel
Introduction: MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f631edc4640c5ef4226213ad0a3e0e64
https://doi.org/10.21203/rs.3.rs-2610838/v1
https://doi.org/10.21203/rs.3.rs-2610838/v1
Autor:
Sunnvør í Kongsstovu, Svein-Ole Mikalsen, Eydna í Homrum, Jan Arge Jacobsen, Thomas D. Als, Hannes Gislason, Paul Flicek, Einar Eg Nielsen, Hans Atli Dahl
Publikováno v:
í Kongsstovu, S, Mikalsen, S O, Homrum, E, Jacobsen, J A, Als, T D, Gislason, H, Flicek, P, Nielsen, E E & Dahl, H A 2022, ' Atlantic herring (Clupea harengus) population structure in the Northeast Atlantic Ocean ', Fisheries Research, vol. 249, 106231 . https://doi.org/10.1016/j.fishres.2022.106231
Kongsstovu, S Í, Mikalsen, S-O, Homrum, E Í, Jacobsen, J A, Als, T D, Gislason, H, Flicek, P, Nielsen, E E & Dahl, H A 2022, ' Atlantic herring ( Clupea harengus ) population structure in the Northeast Atlantic Ocean ', Fisheries Research, vol. 249, 106231 . https://doi.org/10.1016/j.fishres.2022.106231
Kongsstovu, S Í, Mikalsen, S-O, Homrum, E Í, Jacobsen, J A, Als, T D, Gislason, H, Flicek, P, Nielsen, E E & Dahl, H A 2022, ' Atlantic herring ( Clupea harengus ) population structure in the Northeast Atlantic Ocean ', Fisheries Research, vol. 249, 106231 . https://doi.org/10.1016/j.fishres.2022.106231
The Atlantic herring Clupea harengus L has a vast geographical distribution and a complex population structure with a few very large migratory units and many small local populations. Each population has its own spawning ground and/or time, thereby ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::763d664dbd933fd1838b362a952b7e64
https://pure.au.dk/portal/da/publications/atlantic-herring-clupea-harengus-population-structure-in-the-northeast-atlantic-ocean(36342ecb-0556-434a-8a96-5d233ee971b4).html
https://pure.au.dk/portal/da/publications/atlantic-herring-clupea-harengus-population-structure-in-the-northeast-atlantic-ocean(36342ecb-0556-434a-8a96-5d233ee971b4).html
Autor:
Angelisa, Frasca, Efterpi, Pavlidou, Matteo, Bizzotto, Yunan, Gao, Dario, Balestra, Mirko, Pinotti, Hans Atli, Dahl, Nicholas D, Mazarakis, Nicoletta, Landsberger, Maria, Kinali
CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linkedMRI and video EEG telemetry were used to describe brain activity and capture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0f495c0971ff75a41cd20f17b0c0da4e
http://hdl.handle.net/11392/2481031
http://hdl.handle.net/11392/2481031
Publikováno v:
BioInvasions Records. 8:540-550
Autor:
Paul Flicek, Jan Arge Jacobsen, Sunnvør í Kongsstovu, Hannes Gislason, Svein-Ole Mikalsen, Hans Atli Dahl, Eydna í Homrum
Publikováno v:
Journal of fish biology
The sex determination system of Atlantic herring Clupea harengus L., a commercially important fish, was investigated. Low coverage whole-genome sequencing of 48 females and 55 males and a genome-wide association study revealed two regions on chromoso
Autor:
Jan Arge Jacobsen, Svein-Ole Mikalsen, Eydna í Homrum, Paul Flicek, Sunnvør í Kongsstovu, Hans Atli Dahl
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Atlantic herring (Clupea harengus) is one of the most abundant fish species in the world. It is an important economical and nutritional resource, as well as a crucial part of the North Atlantic ecosystem. In 2016, a draft herring genome assembly was
Autor:
Sarah von Spiczak, Sabina Vejzovic, Nicolas Chatron, Laurence L Francois, Guido Rubboli, Julitta de Bellescize, Konstantin Mukhin, Holger Lerche, Marielle E M Swinkels, Johannes R. Lemke, Julia Jacobs, Susanne Blichfeldt, Hans Holthausen, Gaetan Lesca, Inga Talvik, Niels Tommerup, Heather C Mefford, Hiltrud Muhle, Tiina Talvik, Cornelia Betzler, Holly Dubbs, Line H.G. Larsen, Gerhard Kluger, Candace T. Myers, Renzo Guerrini, Steffen Syrbe, Yuan Mang, Marina Nikanorova, Sarah Hopkins, Ingo Helbig, Katrine M Johannesen, Snezana Maljevic, Ingo Borggraefe, Thomas V. Wuttke, Manuela Pendziwiat, Nils Holert, Hans Atli Dahl, Koen L.I. van Gassen, Rikke S. Møller, Carla Marini, Ulvi Vaher, Eva H. Brilstra
Publikováno v:
Møller, R S, Wuttke, T V, Helbig, I, Marini, C, Johannesen, K M, Brilstra, E H, Vaher, U, Borggraefe, I, Talvik, I, Talvik, T, Kluger, G, Francois, L L, Lesca, G, de Bellescize, J, Blichfeldt, S, Chatron, N, Holert, N, Jacobs, J, Swinkels, M E M, Betzler, C, Syrbe, S, Nikanorova, M, Myers, C T, Larsen, L H G, Vejzovic, S, Pendziwiat, M, von Spiczak, S, Hopkins, S, Dubbs, H, Mang, Y, Mukhin, K, Holthausen, H, van Gassen, K L, Dahl, H A, Tommerup, N, Mefford, H C, Rubboli, G, Guerrini, R, Lemke, J R, Lerche, H, Muhle, H & Maljevic, S 2017, ' Mutations in GABRB3 : From febrile seizures to epileptic encephalopathies ', Neurology, vol. 88, no. 5, pp. 483-492 . https://doi.org/10.1212/WNL.0000000000003565
Objective:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.Meth
Autor:
Nahrain Kako, Line H.G. Larsen, Pia Zacher, Dalia Abdin, Nora Liebmann, Steffen Syrbe, Mathias Stiller, Nataliya Di Donato, Deb K. Pal, Rikke S. Møller, Hans Atli Dahl, Julia Hentschel, Johannes R. Lemke
Publikováno v:
Møller, R S, Liebmann, N, Larsen, L H G, Stiller, M, Hentschel, J, Kako, N, Abdin, D, Di Donato, N, Pal, D K, Zacher, P, Syrbe, S, Dahl, H A & Lemke, J R 2019, ' Parental mosaicism in epilepsies due to alleged de novo variants ', Epilepsia, vol. 60, no. 6, pp. e63-e66 . https://doi.org/10.1111/epi.15187
Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies have reported the frequency of somatic mosaicism in parents of children with severe epileptic encephalopathies. Here we aim to investigate the frequency of mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::821d56993a50c6f5f0690e7a4e12ee30
https://findresearcher.sdu.dk:8443/ws/files/170615666/epi.15187.pdf
https://findresearcher.sdu.dk:8443/ws/files/170615666/epi.15187.pdf
Autor:
Andreas Merkenschlager, Holger Thiele, Hans Atli Dahl, Yvonne G. Weber, Elena Gardella, Louise Bakke Møller, Felicitas Becker, Holger Lerche, Sarah E. Heron, Thomas Bast, Michael Nothnagel, Peter Nürnberg, Saskia Biskup, Sarah Weckhuysen, Johannes R. Lemke, Bernhard J. Steinhoff, Rikke S. Møller, Line H.G. Larsen, Niels Tommerup, Janine Altmüller, Julian Schubert, Pia Gellert, Yuan Mang, Leanne M. Dibbens, Sándor Beniczky, Steffen Syrbe, Hans Eiberg, Helle Hjalgrim
Publikováno v:
Annals of Neurology. 79:428-436
Objective Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination—known as infantile convulsions and paroxysmal choreoathetosis (ICCA)—are related autosomal dominant diseases. PRRT2 (proline-rich