E-LIB Suche - Ergebnisse für: Johannesen, Katrine

1

Lemierre's syndrome: current perspectives on diagnosis and ..:

Johannesen, Katrine ; Bodtger, Uffe
Infection and Drug Resistance. 9 (2016) - p. 221-227 , 2016

Link: https://doi.org/10.2147/..

2

Phenotypic spectrum ofGABRA1: From generalized epilepsies t..:

Johannesen, Katrine ; Marini, Carla ; Pfeffer, Siona...
Neurology. 87 (2016) 11 - p. 1140-1151 , 2016

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

3

Lemierre's syndrome: the forgotten disease:

Johannesen, Katrine ; Bødtger, Uffe ; Heltberg, Ole
Journal of Thrombosis and Thrombolysis. 37 (2013) 3 - p. 246-248 , 2013

Link: https://doi.org/10.1007/..

4

Phenotypic and functional assessment of two novel KCNQ2 gai..:

Bayat, Allan ; Iavarone, Stefano ; Miceli, Francesco...
Neurotherapeutics. 21 (2024) 1 - p. e00296 , 2024

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

5

Differences in manifestations of epilepsy and developmental..:

Kofoed, Andreas W. S. ; Kristiansen, Silvia S. ; Miranda, Maria J...
Clinical Genetics. , 2024

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

6

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/..

7

Distinct neurodevelopmental and epileptic phenotypes associ..:

Mohammadi, Nazanin Azarinejad ; Ahring, Philip Kiær ; Yu Liao, Vivian Wan...
eBioMedicine. 106 (2024) - p. 105236 , 2024

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

8

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
Brain. 146 (2023) 12 - p. 5198-5208 , 2023

Link: https://doi.org/10.1093/..

9

Editorial: SLC6A1: the past, present and future:

Johannesen, Katrine M. ; Pérez-Palma, Eduardo ; Rubboli, Guido
Frontiers in Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

10

Solving the unsolved genetic epilepsies: Current and future..:

Johannesen, Katrine M. ; Tümer, Zeynep ; Weckhuysen, Sarah..
Epilepsia. 64 (2023) 12 - p. 3143-3154 , 2023

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

11

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics. 104 (2023) 2 - p. 186-197 , 2023

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

12

Corrigendum: Intrafamilial variability in SLC6A1-related ne..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

13

GABRA1‐Related Disorders: From Genetic to Functional Pathwa..:

Musto, Elisa ; Liao, Vivian W. Y. ; Johannesen, Katrine M....
Annals of Neurology. 95 (2023) 1 - p. 27-41 , 2023

Link: https://doi.org/10.1002/..

14

Clinical and electrophysiological features of SCN8A variant..:

Lyu, Hang ; Boßelmann, Christian M. ; Johannesen, Katrine M....
eBioMedicine. 98 (2023) - p. 104855 , 2023

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

15

Vinpocetine improved neuropsychiatric and epileptic outcome..:

Gjerulfsen, Cathrine E. ; Mieszczanek, Tomasz S. ; Johannesen, Katrine M....
Annals of Clinical and Translational Neurology. 10 (2023) 8 - p. 1493-1498 , 2023

Link: https://doi.org/10.1002/..