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

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease

在原发性线粒体疾病的诊断评估中,解读骨骼肌组织中多发性大规模线粒体DNA缺失(MLSMD)的临床意义

Wang, Jing; Peterson, James T; Santos, Joaquim Diego D; Chan, Ada J S; Diaz-Miranda, Maria Alejandra; Rahaman, Imon; Flickinger, Jean; Goldstein, Amy; Bogush, Emily; McCormick, Elizabeth M; Muraresku, Colleen C; Anderson, Vernon E; Dulik, Matthew C; Wallace, Douglas C; Xiao, Rui; Falk, Marni J; Viaene, Angela N; Zolkipli-Cunningham, Zarazuela

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

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

单一的大规模线粒体DNA缺失综合征:科学与家庭会议优化了罕见病研究成果的收集

MacMullen, Laura E; Reynolds, Elizabeth; Weis, Marissa; George-Sankoh, Ibrahim; Nguyen, Sara; Stanley, Katelynn D; Redko, Mariya; Poblete, Maria; Goldstein, Amy C; Ganetzky, Rebecca D

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

采用多种方法确诊疑似过氧化物酶体生物合成障碍患者

Cheung Anthony C T, Di Pietro Erminia, Argyriou Catherine, Bareke Eric, D'Souza Yasmin, Puri Ratna Dua, Muhammed Shabeer P, Ganetzky Rebecca, Goldstein Amy, Vanderver Adeline, Mohan Shruthi, Majewski Jacek, Yergeau Christine, Braverman Nancy

Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives

MELAS 的体征、症状和健康相关生活质量:从患者和临床医生的角度衡量重要因素

Medrano, Paolo; Banderas, Benjamin; Brimmer, Marisa; Settel, Lily; Berger, Sari; Shields, Alan; Goldstein, Amy; Karaa, Amel; Larson, Austin; Parikh, Sumit; Scaglia, Fernando; Harrington, Karra Danyelle; Edgar, Chris James; Ventola, Pamela; Webster, Matthew; Chickering, Jennifer; Gwaltney, Chad; Wilson, Phebe; Glasser, Chad

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

依拉米普瑞肽对原发性线粒体肌病患者的基因型特异性效应:MMPOWER-3试验的事后分析

Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M; Falk, Marni J; Goldstein, Amy; Gorman, Gráinne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D S; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L K; Vissing, John; Vockley, Jerry; Finman, Jeffrey S; Abbruscato, Anthony; Brown, David A; Sullivan, Alana; Shiffer, James A; Mancuso, Michelango

Understanding the Perception of Place and Its Impact on Community Violence

了解人们对场所的感知及其对社区暴力的影响

Dillard, Dorothy; Henderson, Howard; Rice, Johnny 2nd; Goldstein, Amy D; Mangum, Maruice

Expanded-access use of elamipretide in a critically ill patient with Barth syndrome

在巴特综合征危重患者中扩大使用elamipretide

Goldstein, Amy C; Pantano, Cassandra; Redko, Mariya; MacMullen, Laura E; Maeda, Katsuhide; O'Connor, Matthew J

Vulnerable Populations and Substance Use Prevention Service Delivery for the Mental Health Professional

面向精神卫生专业人员的弱势群体和药物滥用预防服务提供

Deeds, Bethany; Goldstein, Amy B; Blanco, Carlos