E-LIB Suche - Ergebnisse für: Bahi‐Buisson, Nadia

1

Ceroid lipofuscinosis type 2 disease: Effective presymptoma..:

Breuillard, Delphine ; Ouss, Lisa ; Le Normand, Marie Thérèse...
European Journal of Neurology. , 2024

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

2

Long‐term treatment with ganaxolone for seizures associated..:

Olson, Heather E. ; Amin, Sam ; Bahi‐Buisson, Nadia...
Epilepsia. 65 (2023) 1 - p. 37-45 , 2023

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

3

The phenotypic spectrum of X‐linked, infantile onset ALG13‐..:

Datta, Alexandre N. ; Bahi‐Buisson, Nadia ; Bienvenu, Thierry...
Epilepsia. 62 (2021) 2 - p. 325-334 , 2021

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

4

EML1‐associated brain overgrowth syndrome with ribbon‐like ..:

Oegema, Renske ; McGillivray, George ; Leventer, Richard...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 627-637 , 2019

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

5

Novel de novo ZBTB20 mutations in three cases with Primrose..:

Alby, Caroline ; Boutaud, Lucile ; Bessières, Bettina...
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1091-1098 , 2018

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

6

Prenatal and postnatal presentations of corpus callosum age..:

Maillard, Camille ; Cavallin, Mara ; Piquand, Kevin...
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 706-711 , 2017

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

7

Effect of desipramine on patients with breathing disorders ..:

Mancini, Josette ; Dubus, Jean‐Christophe ; Jouve, Elisabeth...
Annals of Clinical and Translational Neurology. 5 (2017) 2 - p. 118-127 , 2017

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

8

Epileptic spasms in congenital disorders of glycosylation:

Pereira, Andreia G. ; Bahi‐Buisson, Nadia ; Barnerias, Christine...
Epileptic Disorders. 19 (2017) 1 - p. 15-23 , 2017

Link: https://doi.org/10.1684/..

9

Epilepsy in young Tsc1+/− mice exhibits age‐dependent expre..:

Gataullina, Svetlana ; Lemaire, Eric ; Wendling, Fabrice...
Epilepsia. 57 (2016) 4 - p. 648-659 , 2016

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

10

Epilepsy diagnostic and treatment needs identified with a c..:

Chipaux, Mathilde ; Szurhaj, William ; Vercueil, Laurent...
Epilepsia. 57 (2016) 5 - p. 757-769 , 2016

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

11

A novel recurrent LIS1 splice site mutation in classic liss..:

Philbert, Marion ; Maillard, Camille ; Cavallin, Mara...
American Journal of Medical Genetics Part A. 173 (2016) 2 - p. 561-564 , 2016

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

12

Characterization of human disease phenotypes associated wit..:

Crow, Yanick J. ; Chase, Diana S. ; Lowenstein Schmidt, Johanna...
American Journal of Medical Genetics Part A. 167 (2015) 2 - p. 296-312 , 2015

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

13

Transition issues for children with diffuse cortical malfor..:

Camfield, Peter R. ; Bahi‐Buisson, Nadia ; Trinka, Eugen
Epilepsia. 55 (2014) s3 - p. 24-28 , 2014

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

14

Altered microtubule dynamics in Mecp2‐deficient astrocytes:

Nectoux, Juliette ; Florian, Cedrick ; Delepine, Chloe...
Journal of Neuroscience Research. 90 (2012) 5 - p. 990-998 , 2012

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

15

Recurrent mutations in the CDKL5 gene: Genotype–phenotype r..:

Bahi‐Buisson, Nadia ; Villeneuve, Nathalie ; Caietta, Emilie...
American Journal of Medical Genetics Part A. 158A (2012) 7 - p. 1612-1619 , 2012

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