E-LIB Suche - Ergebnisse für: Rastetter, Agnès

1

Systematic analysis and prediction of genes associated with..:

Leitão, Elsa ; Schröder, Christopher ; Parenti, Ilaria...
Nature Communications. 13 (2022) 1 - p. , 2022

2

SCN1A-related epilepsy with recessive inheritance: Two furt..:

Moretti, Raffaella ; Arnaud, Lionel ; Bouteiller, Delphine...
European Journal of Paediatric Neurology. 33 (2021) - p. 121-124 , 2021

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

3

Exome Sequencing Reveals Signal Transduction Genes Involved..:

Prud'hon, Sabine ; Bekadar, Samir ; Rastetter, Agnès...
Frontiers in Neurology. 11 (2020) - p. , 2020

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

4

Mutations in the KIF21B kinesin gene cause neurodevelopment..:

Asselin, Laure ; Rivera Alvarez, José ; Heide, Solveig...
Nature Communications. 11 (2020) 1 - p. , 2020

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

5

Variants in the SK2 channel gene (KCNN2) lead to dominant n..:

Mochel, Fanny ; Rastetter, Agnès ; Ceulemans, Berten...
Brain. 143 (2020) 12 - p. 3564-3573 , 2020

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

6

PAK3 mutations responsible for severe intellectual disabili..:

Duarte, Kévin ; Heide, Solveig ; Poëa-Guyon, Sandrine...
Neurobiology of Disease. 136 (2020) - p. 104709 , 2020

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

7

HCN1mutation spectrum: from neonatal epileptic encephalopat..:

Marini, Carla ; Porro, Alessandro ; Rastetter, Agnès...
Brain. 141 (2018) 11 - p. 3160-3178 , 2018

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

8

Targeted versus untargeted omics — the CAFSA story:

del Mar Amador, Maria ; Colsch, Benoit ; Lamari, Foudil...
Journal of Inherited Metabolic Disease. 41 (2018) 3 - p. 447-456 , 2018

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

9

Clinical, chromosomal and molecular characterization of a c..:

Heide, Solveig ; Billette de Villemeur, Thierry ; Nava, Caroline...
European Journal of Paediatric Neurology. 21 (2017) - p. e84 , 2017

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

10

Mutations in DCC cause isolated agenesis of the corpus call..:

Marsh, Ashley P L ; Heron, Delphine ; Edwards, Timothy J...
Nature Genetics. 49 (2017) 4 - p. 511-514 , 2017

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

11

Genetic and phenotypic dissection of 1q43q44 microdeletion ..:

DDD Study ; Depienne, Christel ; Nava, Caroline...
Human Genetics. 136 (2017) 4 - p. 463-479 , 2017

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

12

ARID1Bmutations are the major genetic cause of corpus callo..:

Mignot, Cyril ; Moutard, Marie-Laure ; Rastetter, Agnès...
Brain. 139 (2016) 11 - p. e64-e64 , 2016

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

13

Hypomorphic variants of cationic amino acid transporter 3 i..:

Nava, Caroline ; Rupp, Johanna ; Boissel, Jean-Paul...
Amino Acids. 47 (2015) 12 - p. 2647-2658 , 2015

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

14

De novo mutations in HCN1 cause early infantile epileptic e..:

EuroEPINOMICS RES Consortium ; Nava, Caroline ; Dalle, Carine...
Nature Genetics. 46 (2014) 6 - p. 640-645 , 2014

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

15

Annonacin, a natural lipophilic mitochondrial complex I inh..:

Yamada, Elizabeth S. ; Respondek, Gesine ; Müssner, Stefanie...
Experimental Neurology. 253 (2014) - p. 113-125 , 2014

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