Neurogenetics
Recently Published Articles
Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view
Paulo Sgobbi, Wladimir Bocca Vieira de Rezende Pinto, Daniel Delgado Seneor, Marco Orsini, Marco Antônio Troccoli Chieia, Acary Souza Bulle Oliveira
Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing
Jarret Merschman, Justin Kreuter, Kevin Millard, Brittany Schneider, Manish J Gandhi
4-Phenylbutyrate Rescue in <i>GABRA1</i> Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans
Ziang Debbie Song, Kirill Zavalin, Wangzhen Shen, Melissa B DeLeeuw, Genevieve X Hunn, Ria S Eda, Li Ma, Juexin Wang, Jing-Qiong Kang
Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series
Priyanka R Narayan, Sabah Sabir, Divya Jayvas, Ryan Doan, Qifei Li, Katherine J Anderson, Sharon Chen, Marcia V Felker, Marta Frigeni, Christine Giummo, Jaclyn Kotlarek, Margarita Saenz, Krista Schatz, Alpa Sidhu, Joan Stoler, Lisa R Sun, Shayna Svihovec, David D Weaver, Pankaj B Agrawal, Amy E Roberts, Sarah U Morton
Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development
M Ángeles Luque, Louis Dufresne, Blas Torres, Luis Herrero
Delineating the <i>CTBP1</i>-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants
Enes Yağız Akdaş, Dingyu Lu, Linshen Zhang, Mingzhen Cheng, Ali Bashiri Dezfouli, Barbara Wollenberg
Association Study Between <i>NOTCH2</i> Gene and Idiopathic Central Precocious Puberty in Korean Girls
Young Suk Shim, Kyung Hee Kim, Min Hyung Cho, Jae Hyuk Oh, Hae Sang Lee
Ultrasound-guided renal artery administration of angiopoietin-1 RNA therapy slows the progression of preclinical WT1 glomerular disease
Saif N Malik, Jennifer C Chandler, Ruhina Maeshima, Maria Kolatsi-Joannou, William J Mason, Lauren G Russell, Shunping Han, Yanis Harfouche, Daniyal J Jafree, Emily A E Moore, Hanna Gautier, Christina Katsiva, Reem Al-Saadi, Kathy Pritchard-Jones, Daniel J Stuckey, Andrew V Benest, David O Bates, Paul J Winyard, Aoife M Waters, Luigi Gnudi, Stephen L Hart, Tammy L Kalber, David A Long