Results
|
|
81.
|
|
|
|
82.
|
|
|
|
83.
|
|
|
|
84.
|
|
|
|
85.
|
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. [electronic resource] by
- Begemann, Anaïs
- Acuña, Mario A
- Zweier, Markus
- Vincent, Marie
- Steindl, Katharina
- Bachmann-Gagescu, Ruxandra
- Hackenberg, Annette
- Abela, Lucia
- Plecko, Barbara
- Kroell-Seger, Judith
- Baumer, Alessandra
- Yamakawa, Kazuhiro
- Inoue, Yushi
- Asadollahi, Reza
- Sticht, Heinrich
- Zeilhofer, Hanns Ulrich
- Rauch, Anita
Producer: 20190813
In:
Molecular medicine (Cambridge, Mass.) vol. 25
Availability: No items available.
|
|
|
86.
|
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy. [electronic resource] by
- Neupauerová, Jana
- Štěrbová, Katalin
- Vlčková, Markéta
- Sebroňová, Věra
- Maříková, Tat'ána
- Krůtová, Marcela
- David, Staněk
- Kršek, Pavel
- Žaliová, Markéta
- Seeman, Pavel
- Laššuthová, Petra
Producer: 20180206
In:
Genetic testing and molecular biomarkers vol. 21
Availability: No items available.
|
|
|
87.
|
|
|
|
88.
|
|
|
|
89.
|
Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics. [electronic resource] by
- Baltussen, Lucas L
- Negraes, Priscilla D
- Silvestre, Margaux
- Claxton, Suzanne
- Moeskops, Max
- Christodoulou, Evangelos
- Flynn, Helen R
- Snijders, Ambrosius P
- Muotri, Alysson R
- Ultanir, Sila K
Producer: 20191001
In:
The EMBO journal vol. 37
Availability: No items available.
|
|
|
90.
|
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. [electronic resource] by
- Mignon-Ravix, Cécile
- Milh, Mathieu
- Kaiser, Charlotte Sophia
- Daniel, Jens
- Riccardi, Florence
- Cacciagli, Pierre
- Nagara, Majdi
- Busa, Tiffany
- Liebau, Eva
- Villard, Laurent
Producer: 20190614
In:
Human mutation vol. 39
Availability: No items available.
|
|
|
91.
|
|
|
|
92.
|
|
|
|
93.
|
Scalp EEG high frequency oscillations as a biomarker of treatment response in epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS). [electronic resource] by
- Cao, Dezhi
- Chen, Yan
- Liao, Jianxiang
- Nariai, Hiroki
- Li, Lin
- Zhu, Yanwei
- Zhao, Xia
- Hu, Yan
- Wen, Feiqiu
- Zhai, Qiongxiang
Producer: 20200306
In:
Seizure vol. 71
Availability: No items available.
|
|
|
94.
|
|
|
|
95.
|
|
|
|
96.
|
RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. [electronic resource] by
- Aimiuwu, Osasumwen V
- Fowler, Allison M
- Sah, Megha
- Teoh, Jia Jie
- Kanber, Ayla
- Pyne, Nettie K
- Petri, Sabrina
- Rosenthal-Weiss, Chana
- Yang, Mu
- Harper, Scott Q
- Frankel, Wayne N
Producer: 20210629
In:
Molecular therapy : the journal of the American Society of Gene Therapy vol. 28
Availability: No items available.
|
|
|
97.
|
|
|
|
98.
|
|
|
|
99.
|
Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder. [electronic resource] by
- Fuchs, Claudia
- Gennaccaro, Laura
- Trazzi, Stefania
- Bastianini, Stefano
- Bettini, Simone
- Lo Martire, Viviana
- Ren, Elisa
- Medici, Giorgio
- Zoccoli, Giovanna
- Rimondini, Roberto
- Ciani, Elisabetta
Producer: 20181126
In:
Neural plasticity vol. 2018
Availability: No items available.
|
|
|
100.
|
|