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

SmART-TBI: a fully remote protocol for a placebo-controlled double-masked randomized clinical trial for a dietary supplement to improve sleep in veterans

SmART-TBI:一项完全远程的安慰剂对照双盲随机临床试验方案,旨在研究一种改善退伍军人睡眠的膳食补充剂

Elliott, Jonathan E; Sicard, Savanah J; Olivo, Cosette; Cunningham, Hannah A; Powers, Katherine L; Brewer, Jessica S; Dovek, Laura; Champaigne, Rachel; Hildebrand, Andrea; Cohen, Akiva; Lim, Miranda M

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

WDR44 WD40重复结构域的变异会损害纤毛发生起始,从而导致一系列纤毛病。

Andrea Accogli # ,Saurabh Shakya # ,Taewoo Yang # ,Christine Insinna ,Soo Yeon Kim ,David Bell ,Kirill R Butov ,Mariasavina Severino ,Marcello Niceta ,Marcello Scala ,Hyun Sik Lee ,Taekyeong Yoo ,Jimmy Stauffer ,Huijie Zhao ,Chiara Fiorillo ,Marina Pedemonte ,Maria C Diana ,Simona Baldassari ,Viktoria Zakharova ,Anna Shcherbina ,Yulia Rodina ,Christina Fagerberg ,Laura Sønderberg Roos ,Jolanta Wierzba ,Artur Dobosz ,Amanda Gerard ,Lorraine Potocki ,Jill A Rosenfeld ,Seema R Lalani ,Tiana M Scott ,Daryl Scott ,Mahshid S Azamian ,Raymond Louie ,Hannah W Moore ,Neena L Champaigne ,Grace Hollingsworth ,Annalaura Torella ,Vincenzo Nigro ,Rafal Ploski ,Vincenzo Salpietro ,Federico Zara ,Simone Pizzi ,Giovanni Chillemi ,Marzia Ognibene ,Erin Cooney ,Jenny Do ,Anders Linnemann ,Martin J Larsen ,Suzanne Specht ,Kylie J Walters ,Hee-Jung Choi ,Murim Choi ,Marco Tartaglia ,Phillippe Youkharibache ,Jong-Hee Chae ,Valeria Capra ,Sung-Gyoo Park ,Christopher J Westlake

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

CERT1基因突变通过破坏鞘脂稳态来扰乱人类发育。

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marjia; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

A Novel Bio-Adhesive Mesh System for Medical Implant Applications: In Vivo Assessment in a Rabbit Model

用于医疗植入应用的新型生物粘合网系统:兔子模型中的体内评估

Melinda Harman, Kevin Champaigne, William Cobb, Xinyue Lu, Varun Chawla, Liying Wei, Igor Luzinov, O Thompson Mefford, Jiro Nagatomi

Predicting wellbeing over one year using sociodemographic factors, personality, health behaviours, cognition, and life events

利用社会人口统计因素、人格、健康行为、认知和生活事件预测一年后的幸福感

Chilver, Miranda R; Champaigne-Klassen, Elyse; Schofield, Peter R; Williams, Leanne M; Gatt, Justine M

A new test for autism spectrum disorder: Metabolic data from different cell types

一种新的自闭症谱系障碍检测方法:来自不同细胞类型的代谢数据

Srikanth, Sujata; Cascio, Lauren; Pauly, Rini; Jones, Kelly; Sorrow, Skylar; Cubillan, Rossana; Chen, Chin-Fu; Skinner, Cindy D; Champaigne, Kevin; Stevenson, Roger E; Schwartz, Charles E; Boccuto, Luigi

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

与复发性 CUX2 变异相关的癫痫表型谱

Chatron, Nicolas; Møller, Rikke S; Champaigne, Neena L; Schneider, Amy L; Kuechler, Alma; Labalme, Audrey; Simonet, Thomas; Baggett, Lauren; Bardel, Claire; Kamsteeg, Erik-Jan; Pfundt, Rolph; Romano, Corrado; Aronsson, Johan; Alberti, Antonino; Vinci, Mirella; Miranda, Maria J; Lacroix, Amy; Marjanovic, Dragan; des Portes, Vincent; Edery, Patrick; Wieczorek, Dagmar; Gardella, Elena; Scheffer, Ingrid E; Mefford, Heather; Sanlaville, Damien; Carvill, Gemma L; Lesca, Gaetan

Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

两名互不相关的患者患有常染色体显性遗传性骨发育不良和 FRIZZLED2 基因突变

Warren, Hannah E; Louie, Raymond J; Friez, Michael J; Frías, Jaime L; Leroy, Jules G; Spranger, Jürgen W; Skinner, Steven A; Champaigne, Neena L

New observation of sialuria prompts detection of liver tumor in previously reported patient

对唾液尿的新观察提示在先前报告的患者中发现肝肿瘤

Neena L Champaigne, Jules G Leroy, Priya S Kishnani, Jochen Decaestecker, Edwin Steenkiste, Alka Chaubey, Jiarui Li, Chris Verslype, Jo Van Dorpe, Laura Pollard, Jennifer L Goldstein, Louis Libbrecht, Monica Basehore, Nansheng Chen, Heping Hu, Tim Wood, Michael J Friez, Marjan Huizing, Roger E Steve