Results 331 to 340 of about 412,807 (382)

Correspondence [PDF]

, 1936
Cohen, Felix S.
core   +1 more source

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, EarlyView.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

CANDLE syndrome: A rare case report documented for the first time in the Middle East. [PDF]

Medicine (Baltimore)
Alhiraki H, Hamdi M, Alhiraki H, Alhiraki I.   +3 more
europepmc   +1 more source

SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications

Epilepsia Open, EarlyView.
Abstract A large number of cases with Dravet syndrome (DS) has been attributed to SCN1A loss of function (LOF), whereas SCN1A gain‐of‐function (GOF) causes early infantile developmental and epileptic encephalopathy (EIDEE) and familial hemiplegic migraine 3.
Yoko Kobayashi Takahashi, Kenshiro Tabata, Shimpei Baba, Eri Takeshita, Noriko Sumitomo, Yuko Shimizu‐Motohashi, Takashi Saito, Eiji Nakagawa, Atsushi Ishii, Shinichi Hirose, Mitsuhiro Kato, Naomichi Matsumoto, Hirofumi Komaki, Ken Inoue   +13 more
wiley   +1 more source

Short Stature and Developmental Delay Associated With a Novel Frame-Shift Mutation in ZNF292: Case Report and Literature Review. [PDF]

Clin Case Rep
Dongxue L, Ruen Y, Ying Y, Liting C, Jie W, Chunjiao L, Wei L, Rikun C, Cuiyun L.   +8 more
europepmc   +1 more source

Definitions, Methods, and Strategies to Examine Engagement: Progress and Future Directions for Research on Evaluation

New Directions for Evaluation, EarlyView.
ABSTRACT Engagement is regarded as a core practice that can enhance the quality, utility, and relevance of evaluation. However, more research is needed to provide empirical guidance on designing effective engagement approaches for various communities. Expanding on a prior systematic review, this scoping review examined the current empirical landscape ...
Tatiana E. Bustos, Jessica S. Saucedo, Esther C. Nolton   +2 more
wiley   +1 more source

Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study. [PDF]

Cancer Med
Faranoush M, Naseripour M, Faranoush P, Davoodi-Moghaddam Z, Jahandideh A, Sadighnia N, Daneshjou D, Shams P, Sedaghat A, Mirshahi R, Ravanbod S, Nasirnejad F, Elahinia A, Bashash D.   +13 more
europepmc   +1 more source

Mutations in GFAP Alter Early Lineage Commitment of Organoids

Glia, EarlyView.
Mutations in GFAP alter lineage commitment of organoids. The severity of this commitment defect is dependent on the method of embryoid body formation. GFAP is expressed in iPSCs and during early stages of organoid development. Graphical abstract was created with BioRender.com .
Werner Dykstra, Zuzana Matusova, Rachel A. Battaglia, Pavel Abaffy, Nuria Goya‐Iglesias, Dolores Pérez‐Sala, Henrik Ahlenius, Mikael Kubista, R. Jeroen Pasterkamp, Li Li, Jianfei Chao, Yanhong Shi, Lukas Valihrach, Milos Pekny, Elly M. Hol   +14 more
wiley   +1 more source