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

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3

CMTX3患儿队列的独特临床和神经生理特征

Kanhangad, Manoj; Cornett, Kayla; Brewer, Megan H; Nicholson, Garth A; Ryan, Monique M; Smith, Robert L; Subramanian, Gopinath M; Young, Helen K; Züchner, Stephan; Kennerson, Marina L; Burns, Joshua; Menezes, Manoj P

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

导致遗传性周围神经病的结构变异:理解基因组组织、染色质相互作用和基因失调的范例

Cutrupi, Anthony N; Brewer, Megan H; Nicholson, Garth A; Kennerson, Marina L

Pathogenic role and therapeutic potential of pleiotrophin in mouse models of ocular vascular disease.

多效蛋白在小鼠眼血管疾病模型中的致病作用和治疗潜力

Wang Weiwen, LeBlanc Michelle E, Chen Xiuping, Chen Ping, Ji Yanli, Brewer Megan, Tian Hong, Spring Samantha R, Webster Keith A, Li Wei

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

全基因组测序发现,8号染色体上78 kb的插入是导致夏科-马里-图斯神经病(CMTX3)的原因。

Brewer, Megan H; Chaudhry, Rabia; Qi, Jessica; Kidambi, Aditi; Drew, Alexander P; Menezes, Manoj P; Ryan, Monique M; Farrar, Michelle A; Mowat, David; Subramanian, Gopinath M; Young, Helen K; Zuchner, Stephan; Reddel, Stephen W; Nicholson, Garth A; Kennerson, Marina L

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

全外显子组测序提高了遗传性周围神经病基因诊断的准确性

Drew, Alexander P; Zhu, Danqing; Kidambi, Aditi; Ly, Carolyn; Tey, Shelisa; Brewer, Megan H; Ahmad-Annuar, Azlina; Nicholson, Garth A; Kennerson, Marina L

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2

夏科-马里-图斯病4C型基因座SH3TC2上SOX10/CREB反应元件的单倍型特异性调控

Brewer, Megan Hwa; Ma, Ki Hwan; Beecham, Gary W; Gopinath, Chetna; Baas, Frank; Choi, Byung-Ok; Reilly, Mary M; Shy, Michael E; Züchner, Stephan; Svaren, John; Antonellis, Anthony

The impact of mild stroke on participation in physical fitness activities

轻度中风对参与体育锻炼活动的影响

Hildebrand, Mary; Brewer, Megan; Wolf, Timothy

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region

创始人单倍型的证据将X染色体连锁的夏科-马里-图斯病(CMTX3)基因座精确定位到一个2.5 Mb的区域。

Brewer, Megan; Changi, Febriani; Antonellis, Anthony; Fischbeck, Kurt; Polly, Patsie; Nicholson, Garth; Kennerson, Marina