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Julian Schubert
~ 400  Ergebnisse:
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1

Bi-allelic PRRT2 variants may predispose to Self-limited Fa..:

Koko, Mahmoud ; Elseed, Maha A. ; Mohammed, Inaam N....
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Loss-of-function variants in the KCNQ5 gene are implicated ..:

Krüger, Johanna ; Schubert, Julian ; Kegele, Josua...
eBioMedicine.  84 (2022)  - p. 104244 , 2022
Link: https://doi.org/10.1016/..
 
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3

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

Johannesen, Katrine M ; Liu, Yuanyuan ; Koko, Mahmoud...
Brain.  145 (2021)  9 - p. 2991-3009 , 2021
Link: https://doi.org/10.1093/..
 
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4

Epilepsy-causing STX1B mutations translate altered protein ..:

Freund, Christian ; Rosenmund, Christian ; Lerche, Holger...
Brain.  143 (2020)  7 - p. 2119-2138 , 2020
Link: https://doi.org/10.1093/..
 
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5

Neuronal mechanisms of mutations in SCN8A causing epilepsy ..:

Liu, Yuanyuan ; Schubert, Julian ; Sonnenberg, Lukas...
Brain.  142 (2019)  2 - p. 376-390 , 2019
Link: https://doi.org/10.1093/..
 
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6

Rare gene deletions in genetic generalized and Rolandic epi..:

Jabbari, Kamel ; Bobbili, Dheeraj R. ; Lal, Dennis...
PLOS ONE.  13 (2018)  8 - p. e0202022 , 2018
Link: https://doi.org/10.1371/..
 
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7

Alterations in the α2δ ligand, thrombospondin‐1, in a rat m..:

Santolini, Ines ; Celli, Roberta ; Cannella, Milena...
Epilepsia.  58 (2017)  11 - p. 1993-2001 , 2017
Link: https://doi.org/10.1111/..
 
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8

Clinical spectrum and genotype–phenotype associations of KC..:

Masnada, Silvia ; Hedrich, Ulrike B S ; Gardella, Elena...
Brain.  140 (2017)  9 - p. 2337-2354 , 2017
Link: https://doi.org/10.1093/..
 
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9

Benign infantile seizures and paroxysmal dyskinesia caused ..:

Gardella, Elena ; Becker, Felicitas ; Møller, Rikke S....
Annals of Neurology.  79 (2016)  3 - p. 428-436 , 2016
Link: https://doi.org/10.1002/..
 
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10

A recurrent mutation in KCNA2 as a novel cause of hereditar..:

Helbig, Katherine L. ; Hedrich, Ulrike B.S. ; Shinde, Deepali N....
Annals of Neurology.  80 (2016)  4 - p. , 2016
Link: https://doi.org/10.1002/..
 
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11

Do Glut1 (glucose transporter type 1) defects exist in epil..:

Becker, Felicitas ; Schubert, Julian ; Weckhuysen, Sarah...
Epilepsy Research.  114 (2015)  - p. 47-51 , 2015
Link: https://doi.org/10.1016/..
 
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12

Investigation of GRIN2A in common epilepsy phenotypes:

Lal, Dennis ; Steinbrücker, Sandra ; Schubert, Julian...
Epilepsy Research.  115 (2015)  - p. 95-99 , 2015
Link: https://doi.org/10.1016/..
 
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13

CHD2variants are a risk factor for photosensitivity in epil..:

Galizia, Elizabeth C. ; Myers, Candace T. ; Leu, Costin...
Brain.  138 (2015)  5 - p. 1198-1208 , 2015
Link: https://doi.org/10.1093/..
 
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14

Recessive mutations inSLC13A5result in a loss of citrate tr..:

Hardies, Katia ; de Kovel, Carolien G. F. ; Weckhuysen, Sarah...
Brain.  138 (2015)  11 - p. 3238-3250 , 2015
Link: https://doi.org/10.1093/..
 
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15

DEPDC5 mutations in genetic focal epilepsies of childhood:

Lal, Dennis ; Reinthaler, Eva M. ; Schubert, Julian...
Annals of Neurology.  75 (2014)  5 - p. 788-792 , 2014
Link: https://doi.org/10.1002/..
 
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