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

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

儿童交替性偏瘫:美国AHCF登记处187例受试者的回顾性遗传学研究及基因型-表型相关性分析

Viollet, Louis; Glusman, Gustavo; Murphy, Kelley J; Newcomb, Tara M; Reyna, Sandra P; Sweney, Matthew; Nelson, Benjamin; Andermann, Frederick; Andermann, Eva; Acsadi, Gyula; Barbano, Richard L; Brown, Candida; Brunkow, Mary E; Chugani, Harry T; Cheyette, Sarah R; Collins, Abigail; DeBrosse, Suzanne D; Galas, David; Friedman, Jennifer; Hood, Lee; Huff, Chad; Jorde, Lynn B; King, Mary D; LaSalle, Bernie; Leventer, Richard J; Lewelt, Aga J; Massart, Mylynda B; Mérida, Mario R 2nd; Ptáček, Louis J; Roach, Jared C; Rust, Robert S; Renault, Francis; Sanger, Terry D; Sotero de Menezes, Marcio A; Tennyson, Rachel; Uldall, Peter; Zhang, Yue; Zupanc, Mary; Xin, Winnie; Silver, Kenneth; Swoboda, Kathryn J

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

ATP1A3基因的新生突变会导致儿童交替性偏瘫。

Heinzen, Erin L; Swoboda, Kathryn J; Hitomi, Yuki; Gurrieri, Fiorella; Nicole, Sophie; de Vries, Boukje; Tiziano, F Danilo; Fontaine, Bertrand; Walley, Nicole M; Heavin, Sinéad; Panagiotakaki, Eleni; Fiori, Stefania; Abiusi, Emanuela; Di Pietro, Lorena; Sweney, Matthew T; Newcomb, Tara M; Viollet, Louis; Huff, Chad; Jorde, Lynn B; Reyna, Sandra P; Murphy, Kelley J; Shianna, Kevin V; Gumbs, Curtis E; Little, Latasha; Silver, Kenneth; Ptáček, Louis J; Haan, Joost; Ferrari, Michel D; Bye, Ann M; Herkes, Geoffrey K; Whitelaw, Charlotte M; Webb, David; Lynch, Bryan J; Uldall, Peter; King, Mary D; Scheffer, Ingrid E; Neri, Giovanni; Arzimanoglou, Alexis; van den Maagdenberg, Arn M J M; Sisodiya, Sanjay M; Mikati, Mohamad A; Goldstein, David B

Alpha-synuclein loss in spinal muscular atrophy.

脊髓性肌萎缩症中的α-突触核蛋白丢失

Acsadi Gyula, Li Xingli, Murphy Kelley J, Swoboda Kathryn J, Parker Graham C

An optimized method for histological detection of dopaminergic neurons in Drosophila melanogaster

一种用于果蝇多巴胺能神经元组织学检测的优化方法

Drobysheva, Daria; Ameel, Kristen; Welch, Brandon; Ellison, Esther; Chaichana, Khan; Hoang, Bryan; Sharma, Shilpy; Neckameyer, Wendi; Srinakevitch, Irina; Murphy, Kelley J; Schmid, Aloisia

Proliferation, apoptosis, and survivin expression in a spectrum of melanocytic nevi

黑素细胞痣谱系中的增殖、凋亡和存活素表达

Florell, Scott R; Bowen, Anneli R; Hanks, Adrianne N; Murphy, Kelley J; Grossman, Douglas

Proliferation, apoptosis, and survivin expression in keratinocytic neoplasms and hyperplasias

角质形成细胞肿瘤和增生中的增殖、凋亡和存活素表达

Bowen, Anneli R; Hanks, Adrianne N; Murphy, Kelley J; Florell, Scott R; Grossman, Douglas