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Molecular Genetics & Genomic Medicine|September 12, 2020
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorderLaura Schultz-Rogers, Ikuo Masuho, Filippo Pinto E Vairo, et al.
Nature Structural & Molecular Biology|January 20, 2025
The structure and function of the ghrelin receptor coding for drug actionsYuki Shiimura, Dohyun Im, Ryosuke Tany, et al.
Science (New York, N.Y.)|August 17, 2019
Genetic behavioral screen identifies an orphan anti-opioid systemDandan Wang, Hannah M Stoveken, Stefano Zucca, et al.
Journal of Neurology|January 27, 2016
Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of functionCamila Oliveira Dos Santos, Ikuo Masuho, Francisco Pereira da Silva-Júnior, et al.
Human Molecular Genetics|January 15, 2017
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansKatja Lohmann, Ikuo Masuho, Dipak N Patil, et al.
Nature Genetics|December 11, 2012
Mutations in GNAL cause primary torsion dystoniaTania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, et al.
Brain : a Journal of Neurology|April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathiesGülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
JAMA Neurology|February 19, 2014
Mutations in GNAL: a novel cause of craniocervical dystoniaKishore R Kumar, Katja Lohmann, Ikuo Masuho, et al.
Scientific Reports|March 10, 2019
Author Correction: RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cellsNouar Qutob, Ikuo Masuho, Michal Alon, et al.
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