E-LIB Suche - Ergebnisse für: Doummar, Diane

1

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition w..:

Ortigoza‐Escobar, Juan Darío ; Zamani, Mina ; Dorison, Nathalie...
Movement Disorders. , 2024

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

2

Cerebral dural arteriovenous fistulas in patients with PTEN..:

Gerasimenko, Anna ; Mignot, Cyril ; Naggara, Olivier...
Clinical Genetics. 106 (2024) 1 - p. 90-94 , 2024

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

3

CHD8-related disorders redefined: an expanding spectrum of ..:

Sorrentino, Ugo ; Boesch, Sylvia ; Doummar, Diane...
Journal of Neurology. 271 (2024) 5 - p. 2859-2865 , 2024

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

4

Dyskinetic crisis in GNAO1-related disorders: clinical pers..:

Domínguez Carral, Jana ; Reinhard, Carola ; Ebrahimi-Fakhari, Darius...
Frontiers in Neurology. 15 (2024) - p. , 2024

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

5

Prospective Multicenter Validation of a Simple Blood Test f..:

Mochel, Fanny ; Gras, Domitille ; Luton, Marie-Pierre...
Neurology. 100 (2023) 23 - p. , 2023

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

6

Clinical and Electrophysiological Characterization of Essen..:

Piarroux, Julie ; Dimopoulou, Evgenia ; Taieb, Guillaume...
Tremor and Other Hyperkinetic Movements. 13 (2023) - p. 46 , 2023

Link: https://doi.org/10.5334/..

7

Heterozygous variants in CTR9, which encodes a major compon..:

Meuwissen, Marije ; Verstraeten, Aline ; Ranza, Emmanuelle...
Genetics in Medicine. 24 (2022) 7 - p. 1583-1591 , 2022

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

8

Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrosp..:

Méneret, Aurélie ; Mohammad, Shekeeb S. ; Cif, Laura...
Movement Disorders. 37 (2022) 6 - p. 1294-1298 , 2022

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

9

Expansion du phénotype dystonique associé aux mutations dan..:

Wirth, Thomas ; Garone, Giacomo ; Amélie, Piton...
Revue Neurologique. 178 (2022) - p. S44 , 2022

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

10

Adaptive behavior and psychiatric comorbidities in KCNB1 en..:

Bar, Claire ; Breuillard, Delphine ; Kuchenbuch, Mathieu...
Epilepsy & Behavior. 126 (2022) - p. 108471 , 2022

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

11

Reply to: "GNAO1 Haploinsufficiency Associated with a Mild ..:

Wirth, Thomas ; Garone, Giacomo ; Kurian, Manju A....
Movement Disorders. 37 (2022) 12 - p. 2466-2467 , 2022

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

12

Movement disorders in valine métabolism diseases caused by ..:

François‐Heude, Marie‐Céline ; Lebigot, Elise ; Roze, Emmanuel...
European Journal of Neurology. 29 (2022) 11 - p. 3229-3242 , 2022

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

13

Gain and loss of TASK3 channel function and its regulation ..:

Cousin, Margot A. ; Veale, Emma L. ; Dsouza, Nikita R....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

14

Tremor-like subcortical myoclonus in STXBP1 encephalopathy:

Loussouarn, Anna ; Doummar, Diane ; Beaugendre, Yara...
European Journal of Paediatric Neurology. 34 (2021) - p. 62-66 , 2021

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

15

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle M....
Human Genetics. 141 (2021) 1 - p. 65-80 , 2021

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