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

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

对与伴有或不伴有癫痫的神经发育障碍相关的HCN1变异体进行全面分类

Castelli, Roberta; Marini, Carla; Porro, Alessandro; Castellini, Anna; Fontana, Greta; Saponaro, Andrea; Cavalleri, Gianpiero; Rizzi, Susanna; Fusco, Carlo; Parida, Amitav; Caswell, Richard; Sherlaw, Charlotte; Pruna, Dario; Reid, Chris; Bleakley, Lauren E; Howell, Katherine B; Sheffer, Ingrid; Cuddapah, Vishnu Anad; Zeidler, Shimriet; Pavlidis, Elena; Pal, Deb; Szczałuba, Krzysztof; Mirzaa, Ghayda; Couque, Nathalie; Capri, Yline; Faivre, Laurence; Mau-Them, Frederic Tran; Sirchia, Fabio; Korff, Christian M; DiFrancesco, Dario; Thiel, Gerhard; Depienne, Christel; Santoro, Bina; Moroni, Anna

Sleep drive, not total sleep amount, increases seizure risk.

睡眠驱动力(而非总睡眠时间)会增加癫痫发作的风险

Cuddapah Vishnu Anand, Hsu Cynthia T, Valle Sirias Fernanda, Li Yongjun, Shah Hrishit M, Saul Christopher, Killiany Samantha, Guevara Camilo, Shon Joy, Yue Zhifeng, Gionet Gabrielle L, Putt Mary E, Sehgal Amita

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

BMAL1基因的罕见变异与一种神经发育综合征相关。

Cuddapah, Vishnu Anand; Chen, Dechun; Cho, Bumsik; Moore, Rebecca; Suri, Mohnish; Safraou, Hana; Tran-Mau-Them, Frederic; Wilson, Ashley; Odgis, Jacqueline; Rehman, Atteeq U; Saunders, Carol; Ganesan, Shiva; Jobanputra, Vaidehi; Scherer, Stephen W; Helbig, Ingo; Sehgal, Amita

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.

ITSN1 单倍体不足与帕金森病风险显著增加有关

Spargo Thomas P, Sands Chloe F, Juan Isabella R, Mitchell Jonathan, Ravanmehr Vida, Butts Jessica C, De-Paula Ruth B, Kim Youngdoo, Hu Fengyuan, Wang Quanli, Vitsios Dimitrios, Garg Manik, Middleton Lawrence, Tyrlik Michal, Messa Mirko, Del Angel Guillermo, Calame Daniel G, Saade Hiba, Robak Laurie, Hollis Ben, Cuddapah Vishnu A, Zoghbi Huda Y, Shulman Joshua M, Petrovski Slavé, Al-Ramahi Ismael, Tachmazidou Ioanna, Dhindsa Ryan S

Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen

宾夕法尼亚州新生儿筛查确诊的庞贝病患者五年预后

Ron, Hayley A; Kane, Owen; Guo, Rose; Menello, Caitlin; Engelhardt, Nicole; Pressley, Shaney; DiBoscio, Brenda; Steffensen, Madeline; Cuddapah, Sanmati; Ng, Kim; Ficicioglu, Can; Ahrens-Nicklas, Rebecca C

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

一例胱氨酸病患者遗体肝移植病例报告

Taj, Raeda; Ng, Kim; Cuddapah, Sanmati R; Rand, Elizabeth B; Bleicher, Melissa; Amaral, Sandra; Hoteit, Maarouf A; Reddy, Rajendar K; Feyssa, Eyob; Furth, Emma E; Olthoff, Kim M; Abu-Gazala, Samir; Levine, Matthew H; Vyas, Frederick; Abt, Peter L

A neuron-glia lipid metabolic cycle couples daily sleep to mitochondrial homeostasis

神经元-胶质细胞脂质代谢循环将日常睡眠与线粒体稳态联系起来

Paula R Haynes, Elana S Pyfrom, Yongjun Li, Carly Stein, Vishnu Anand Cuddapah, Jack A Jacobs, Zhifeng Yue, Amita Sehgal

Interrogating erectile dysfunction and evaluating novel therapeutic frontiers, with emphasis on stem cell strategies

深入研究勃起功能障碍并评估新的治疗前沿领域,重点关注干细胞策略

Sonawane, Tareeka; Kashte, Shivaji; Khera, Simran; Bahulkar, Ashutosh; Cuddapah, Chennakesava; Kadam, Sachin

Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria

恩那西尼布诱发的II型D2-羟基戊二酸尿症患者的肝炎

Gold, Jessica I; Stefanatos, Arianna K; Fraser, Jamie L; Vanderver, Adeline; Cuddapah, Sanmati

Interpretable predictive models of genome-wide aryl hydrocarbon receptor-DNA binding reveal tissue-specific binding determinants

可解释的全基因组芳烃受体-DNA结合预测模型揭示了组织特异性结合决定因素

Filipovic, David; Qi, Wenjie; Kana, Omar; Marri, Daniel; LeCluyse, Edward L; Andersen, Melvin E; Cuddapah, Suresh; Bhattacharya, Sudin