E-LIB Suche - Ergebnisse für: Johannesen, Katrine M. H.

1

Gain-of-function and loss-of-function GABRB3 variants lead ..:

Absalom, Nathan L. ; Liao, Vivian W. Y. ; Johannesen, Katrine M. H....
Nature Communications. 13 (2022) 1 - p. , 2022

2

Haploinsufficiency underlies the neurodevelopmental consequ..:

Silva, Dina Buitrago ; Trinidad, Marena ; Ljungdahl, Alicia...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1222-1238 , 2024

Link: https://doi.org/10.1016/..

3

Structural mapping of GABRB3 variants reveals genotype–phen..:

Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena...
Genetics in Medicine. 24 (2022) 3 - p. 681-693 , 2022

Link: https://doi.org/10.1016/..

4

Utility of genetic testing for therapeutic decision‐making ..:

Johannesen, Katrine M. ; Nikanorova, Natalya ; Marjanovic, Dragan...
Epilepsia. 61 (2020) 6 - p. 1234-1239 , 2020

Link: https://doi.org/10.1111/..

5

Biallelic inherited SCN8A variants, a rare cause of SCN8A‐r..:

Wengert, Eric R. ; Tronhjem, Cathrine E. ; Wagnon, Jacy L....
Epilepsia. 60 (2019) 11 - p. 2277-2285 , 2019

Link: https://doi.org/10.1111/..

6

Defining the phenotypic spectrum of SLC6A1 mutations:

Johannesen, Katrine M. ; Gardella, Elena ; Linnankivi, Tarja...
Epilepsia. 59 (2018) 2 - p. 389-402 , 2018

Link: https://doi.org/10.1111/..

7

Mutations inGABRB3: From febrile seizures to epileptic ence..:

Møller, Rikke S. ; Wuttke, Thomas V. ; Helbig, Ingo...
Neurology. 88 (2017) 5 - p. 483-492 , 2017

Link: https://doi.org/10.1212/..

8

Gain-of-function and loss-of-function GABRB3 variants lead ..:

Absalom, Nathan L ; Liao, Vivian W.Y ; Johannesen, Katrine M.H...
Absalom , N L , Liao , V W Y , Johannesen , K M H , Gardella , E , Jacobs , J , Lesca , G , Gokce-Samar , Z , Arzimanoglou , A , Zeidler , S , Striano , P , Meyer , P , Benkel-Herrenbrueck , I , Mero , I L , Rummel , J , Chebib , M , Møller , R S & Ahring , P K 2022 , ' Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies ' , Nature Communications , vol. 13 , no. 1 , 1822 . https://doi.org/10.1038/s41467-022-29280-x. , 2022

Link: https://pure.eur.nl/en/p..

9

Gain-of-function and loss-of-function GABRB3 variants lead ..:

Absalom, Nathan L ; Liao, Vivian W.Y ; Johannesen, Katrine M.H...
Absalom , N L , Liao , V W Y , Johannesen , K M H , Gardella , E , Jacobs , J , Lesca , G , Gokce-Samar , Z , Arzimanoglou , A , Zeidler , S , Striano , P , Meyer , P , Benkel-Herrenbrueck , I , Mero , I L , Rummel , J , Chebib , M , Møller , R S & Ahring , P K 2022 , ' Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies ' , Nature Communications , vol. 13 , 1822 . https://doi.org/10.1038/s41467-022-29280-x. , 2022

Link: https://portal.findresea..

10

Gain-of-function and loss-of-function GABRB3 variants lead ..:

Absalom, Nathan L ; Liao, Vivian W. Y ; Johannesen, Katrine M. H...
https://freidok.uni-freiburg.de/data/226583. , 2022

Link: https://freidok.uni-frei..

11

Genetic and phenotypic heterogeneity suggest therapeutic im..:

Wolff, M. (Markus) ; Johannesen, K.M. (Katrine M.) ; Hedrich, U.B.S. (Ulrike B. S.)...
info:eu-repo/grantAgreement/EC/FP7/279062. , 2017

Link: http://repub.eur.nl/pub/..

12

Gain-of-function and loss-of-function GABRB3 variants lead ..:

Nathan L. Absalom ; Vivian W. Y. Liao ; Katrine M. H. Johannesen...
https://doi.org/10.1038/s41467-022-29280-x. , 2022

Link: https://doi.org/10.1038/..

13

Genotype-phenotype correlations in SCN8A -related disorders..:

Johannesen, Katrine M ; Liu, Yuanyuan ; Koko, Mahmoud...
https://pure.au.dk/portal/da/publications/genotypephenotype-correlations-in-scn8arelated-disorders-reveal-prognostic-and-therapeutic-implications(422fc9d3-1def-4398-b769-36ea8060c281).html. , 2022

Link: https://pure.au.dk/porta..

14

PURA- Related Developmental and Epileptic Encephalopathy: P..:

Johannesen, Katrine, M ; Gardella, Elena ; Gjerulfsen, Cathrine, E...
info:eu-repo/semantics/altIdentifier/doi/10.1212/nxg.0000000000000613. , 2021

Link: https://hal.science/hal-..

15

PURA- Related Developmental and Epileptic Encephalopathy: P..:

Johannesen, Katrine, M ; Gardella, Elena ; Gjerulfsen, Cathrine, E...
info:eu-repo/semantics/altIdentifier/doi/10.1212/nxg.0000000000000613. , 2021

Link: https://hal.science/hal-..