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

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

VARS2 中的新变异揭示了一种罕见线粒体病的表型变异性,该病对缬氨酸补充剂有反应

Marquez, Jonathan; Viviano, Stephen; Rahman, Fahmid; Strohbehn, Samuel D; Allworth, Aimee; Perez, Norma; Saneto, Russell P; Anna, Scott 1st; Penón Portmann, Mónica; Blue, Elizabeth E; Glass, Ian A; Deniz, Engin; Shelkowitz, Emily

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

单发大规模线粒体缺失综合征:儿科患者的神经影像学表型和纵向进展

Alves, Cesar A P F; Rossi-Espagnet, Maria Camilla; Perez, Francisco; Manteghinejad, Amirreza; Peterson, James T; Ganetzky, Rebecca; Napolitano, Antonio; Grassi, Francesco; George-Sankoh, Ibrahim; Yildiz, Harun; Muraresku, Colleen; Falk, Marni J; Martinelli, Diego; Longo, Daniela; Vanderver, Adeline; Gandolfo, Carlo; Saneto, Russell P; Goldstein, Amy; Vossough, Arastoo

Pancreatic involvement in EPG5-related disorders

EPG5相关疾病中的胰腺受累

Famili, Dennis T; Elghazali, Gehad; Argili, Emanuela; Saneto, Russell P; Harris, Michael; Gerasimenko, Oleg; Gerasimenko, Julia; Fanto, Manolis; Dafsari, Hormos Salimi; Jungbluth, Heinz

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

鸟苷酸激酶 1 缺乏症:一种新型且可能可治疗的线粒体 DNA 耗竭/缺失疾病

Hidalgo-Gutierrez Agustin, Shintaku Jonathan, Ramon Javier, Barriocanal-Casado Eliana, Pesini Alba, Saneto Russell P, Garrabou Gloria, Milisenda Jose Cesar, Matas-Garcia Ana, Gort Laura, Ugarteburu Olatz, Gu Yue, Koganti Lahari, Wang Tian, Tadesse Saba, Meneri Megi, Sciacco Monica, Wang Shuang, Tanji Kurenai, Horwitz Marshall S, Dorschner Michael O, Mansukhani Mahesh, Comi Giacomo Pietro, Ronchi Dario, Marti Ramon, Ribes Antonia, Tort Frederic, Hirano Michio

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

罕见的EIF4A2变异与一种神经发育障碍有关,其特征是智力障碍、肌张力低下和癫痫。

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein Tobias B Haack, Ulrike; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Jamra, Rami Abou; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B

Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?

线粒体疾病患者的优化营养与肌肉疲劳、力量和生活质量的改善相关:人如其食,还是人如其身?

Saneto, Russell P; Karaa, Amel

Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

更正:生酮饮食作为非酮症高甘氨酸血症的甘氨酸降低疗法及其对脑甘氨酸水平的影响

Shelkowitz, Emily; Saneto, Russell P; Al-Hertani, Walla; Lubout, Charlotte M A; Stence, Nicholas V; Brown, Mark S; Long, Patrick; Walleigh, Diana; Nelson, Julie A; Perez, Francisco E; Shaw, Dennis W W; Michl, Emma J; Van Hove, Johan L K

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

对局灶性脑畸形中PI3K-AKT-MTOR变异体的分析揭示了诊断护理的新见解

Pirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S; Saitta, Sulagna C; Lockwood, Christina M; Pritchard, Colin C; Dobyns, William B; Novotny, Edward; Wright, Jason N N; Saneto, Russell P; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P; Mirzaa, Ghayda M

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome

一项针对葡萄糖转运蛋白1缺乏综合征患者难治性癫痫的三庚酸甘油酯随机、双盲试验

Striano, Pasquale; Auvin, Stéphane; Collins, Abigail; Horvath, Rita; Scheffer, Ingrid E; Tzadok, Michal; Miller, Ian; Kay Koenig, Mary; Lacy, Adrian; Davis, Ronald; Garcia-Cazorla, Angela; Saneto, Russell P; Brandabur, Melanie; Blair, Susan; Koutsoukos, Tony; De Vivo, Darryl