日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

DDX53基因的遗传变异与Xp22.11位点相关的自闭症谱系障碍有关。

Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S; Anagnostou, Evdokia; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Corona, Rosario Ivetth; Russell, Bianca E; Nelson, Stanley F; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W

Exploration biases forelimb reaching strategies.

探索行为会影响前肢的伸展策略

Mosberger Alice C, Sibener Leslie J, Chen Tiffany X, Rodrigues Helio F M, Hormigo Richard, Ingram James N, Athalye Vivek R, Tabachnik Tanya, Wolpert Daniel M, Murray James M, Costa Rui M

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

DDX53基因的遗传变异与Xp22.11位点相关的自闭症谱系障碍有关。

Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Reuter, Miriam S; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Russell, Bianca E; Nelson, Stanley F; Zara, Federico; Scherer, Stephen W

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

与 ALS 相关的 SPTLC1 变体通过与 ORMDL 蛋白的相互作用受损产生不同的鞘脂特征

Museer A Lone, Mari J Aaltonen, Aliza Zidell, Helio F Pedro, Jonas A Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G Bönnemann, Eric A Shoubridge, Thorsten Hornemann

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes

利用两个新基因拓展口面指综合征的遗传图谱

Strong, Alanna; Simone, Laurie; Krentz, Anthony; Vaccaro, Courtney; Watson, Deborah; Ron, Hayley; Kalish, Jennifer M; Pedro, Helio F; Zackai, Elaine H; Hakonarson, Hakon

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

GRIN2B脑病:表型、变异聚集、功能后果和治疗方面的新发现

Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E; Brilstra, Eva; van Haelst, Mieke M; van der Smagt, Jasper J; Bok, Levinus A; Møller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A; Brady, Lauren I; Wolff, Markus; Dondit, Lutz; Pedro, Helio F; Parisotto, Sarah E; Jones, Kelly L; Patel, Anup D; Franz, David N; Vanzo, Rena; Marco, Elysa; Ranells, Judith D; Di Donato, Nataliya; Dobyns, William B; Laube, Bodo; Traynelis, Stephen F; Lemke, Johannes R