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

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression

早期发作性癫痫性脑病伴爆发抑制的遗传学和基因型-表型相关性

Olson, Heather E; Kelly, McKenna; LaCoursiere, Christopher M; Pinsky, Rebecca; Tambunan, Dimira; Shain, Catherine; Ramgopal, Sriram; Takeoka, Masanori; Libenson, Mark H; Julich, Kristina; Loddenkemper, Tobias; Marsh, Eric D; Segal, Devorah; Koh, Susan; Salman, Michael S; Paciorkowski, Alex R; Yang, Edward; Bergin, Ann M; Sheidley, Beth Rosen; Poduri, Annapurna

Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish

利用微阵列技术对完整斑马鱼幼体进行非侵入性神经元癫痫发作记录

Meyer, Michaela; Dhamne, Sameer C; LaCoursiere, Christopher M; Tambunan, Dimira; Poduri, Annapurna; Rotenberg, Alexander

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

SCN2A脑病:婴儿期游走性局灶性癫痫的主要病因

Howell, Katherine B; McMahon, Jacinta M; Carvill, Gemma L; Tambunan, Dimira; Mackay, Mark T; Rodriguez-Casero, Victoria; Webster, Richard; Clark, Damian; Freeman, Jeremy L; Calvert, Sophie; Olson, Heather E; Mandelstam, Simone; Poduri, Annapurna; Mefford, Heather C; Harvey, A Simon; Scheffer, Ingrid E

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

PYCR2(编码吡咯烷-5-羧酸还原酶 2)突变导致小头畸形和髓鞘发育不全

Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil, Joan M Stoler, Wen-Hann Tan, Ramzi Nasir, Klaus Schmitz-Abe, R Sean Hill, Jennifer N Partlow, Muna Al-Saffar, Sarah Servattalab, Christopher M LaCoursiere, Dimira E Tambunan, Michael E Coulter, Princess C Elhosary, Grze

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

雷特综合征患者的癫痫和智力障碍基因突变

Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis

CC2D1A 调节人类智力和社会功能以及 NF-κB 信号稳态

M Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A Nanjiani, Saima Rasheed, R Sean Hill, Sofia B Lizarraga, Danielle Gleason, Diya S

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

B3GALNT2 突变导致先天性肌营养不良症和 α-肌营养不良蛋白聚糖的低糖基化

Elizabeth Stevens, Keren J Carss, Sebahattin Cirak, A Reghan Foley, Silvia Torelli, Tobias Willer, Dimira E Tambunan, Shu Yau, Lina Brodd, Caroline A Sewry, Lucy Feng, Goknur Haliloglu, Diclehan Orhan, William B Dobyns, Gregory M Enns, Melanie Manning, Amanda Krause, Mustafa A Salih, Christopher A W

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

斑马鱼外显子组测序和功能验证表明,GTDC2 基因突变是沃克-瓦尔堡综合征的病因。

Manzini, M Chiara; Tambunan, Dimira E; Hill, R Sean; Yu, Tim W; Maynard, Thomas M; Heinzen, Erin L; Shianna, Kevin V; Stevens, Christine R; Partlow, Jennifer N; Barry, Brenda J; Rodriguez, Jacqueline; Gupta, Vandana A; Al-Qudah, Abdel-Karim; Eyaid, Wafaa M; Friedman, Jan M; Salih, Mustafa A; Clark, Robin; Moroni, Isabella; Mora, Marina; Beggs, Alan H; Gabriel, Stacey B; Walsh, Christopher A