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

Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.

脑脊液中的可溶性 SorLA 是一种新型生物标志物,可用于探索阿尔茨海默病中 SorLA 蛋白运输的紊乱

Castelot Romain, Zarea Aline, Wallon David, Rovelet-Lecrux Anne, Schramm Catherine, Quillard-Muraine Muriel, Beaume Anne, Blanc Frédéric, Bousiges Olivier, Dumurgier Julien, Formaglio Maïté, Leguyader Gwenael, Lehmann Sylvain, Marelli Cecilia, Martinet Matthieu, Nogueira Leonor, Pariente Jérémie, Quadrio Isabelle, Rollin-Sillaire Adeline, Schraen Susanna, Nicolas Gaël, Lecourtois Magalie

Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

出版商更正:使用基于家庭的策略和按 APOE 基因型分层的方法估计 SORL1 功能缺失变异携带者阿尔茨海默病的穿透率

Schramm, Catherine; Charbonnier, Camille; Zaréa, Aline; Lacour, Morgane; Wallon, David; Boland, Anne; Deleuze, Jean-François; Olaso, Robert; Alarcon, Flora; Campion, Dominique; Nuel, Grégory; Nicolas, Gaël

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

利用基于家族的策略和APOE基因型分层方法,对SORL1功能缺失变异携带者阿尔茨海默病的穿透率进行估计

Schramm, Catherine; Charbonnier, Camille; Zaréa, Aline; Lacour, Morgane; Wallon, David; Boland, Anne; Deleuze, Jean-François; Olaso, Robert; Alarcon, Flora; Campion, Dominique; Nuel, Grégory; Nicolas, Gaël

Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome

基因组范围内缺失和重复对自闭症风险的影响程度

Douard, Elise; Zeribi, Abderrahim; Schramm, Catherine; Tamer, Petra; Loum, Mor Absa; Nowak, Sabrina; Saci, Zohra; Lord, Marie-Pier; Rodríguez-Herreros, Borja; Jean-Louis, Martineau; Moreau, Clara; Loth, Eva; Schumann, Gunter; Pausova, Zdenka; Elsabbagh, Mayada; Almasy, Laura; Glahn, David C; Bourgeron, Thomas; Labbe, Aurélie; Paus, Tomas; Mottron, Laurent; Greenwood, Celia M T; Huguet, Guillaume; Jacquemont, Sébastien

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability

对 24,092 名个体进行全基因组基因剂量分析估计,约有 10,000 个基因调节认知能力。

Huguet, Guillaume; Schramm, Catherine; Douard, Elise; Tamer, Petra; Main, Antoine; Monin, Pauline; England, Jade; Jizi, Khadije; Renne, Thomas; Poirier, Myriam; Nowak, Sabrina; Martin, Charles-Olivier; Younis, Nadine; Knoth, Inga Sophia; Jean-Louis, Martineau; Saci, Zohra; Auger, Maude; Tihy, Frédérique; Mathonnet, Géraldine; Maftei, Catalina; Léveillé, France; Porteous, David; Davies, Gail; Redmond, Paul; Harris, Sarah E; Hill, W David; Lemyre, Emmanuelle; Schumann, Gunter; Bourgeron, Thomas; Pausova, Zdenka; Paus, Tomas; Karama, Sherif; Lippe, Sarah; Deary, Ian J; Almasy, Laura; Labbe, Aurélie; Glahn, David; Greenwood, Celia M T; Jacquemont, Sébastien

Effects of eight neuropsychiatric copy number variants on human brain structure

八种神经精神拷贝数变异对人脑结构的影响

Modenato, Claudia; Kumar, Kuldeep; Moreau, Clara; Martin-Brevet, Sandra; Huguet, Guillaume; Schramm, Catherine; Jean-Louis, Martineau; Martin, Charles-Olivier; Younis, Nadine; Tamer, Petra; Douard, Elise; Thébault-Dagher, Fanny; Côté, Valérie; Charlebois, Audrey-Rose; Deguire, Florence; Maillard, Anne M; Rodriguez-Herreros, Borja; Pain, Aurèlie; Richetin, Sonia; Melie-Garcia, Lester; Kushan, Leila; Silva, Ana I; van den Bree, Marianne B M; Linden, David E J; Owen, Michael J; Hall, Jeremy; Lippé, Sarah; Chakravarty, Mallar; Bzdok, Danilo; Bearden, Carrie E; Draganski, Bogdan; Jacquemont, Sébastien

Dysregulation of peripheral expression of the YWHA genes during conversion to psychosis

精神病转化过程中YWHA基因外周表达失调

Demars, Fanny; Kebir, Oussama; Marzo, Aude; Iftimovici, Anton; Schramm, Catherine; Krebs, Marie-Odile; Chaumette, Boris

Combining Whole-Genome Sequencing and Multimodel Phenotyping To Identify Genetic Predictors of Salmonella Virulence

结合全基因组测序和多模型表型分析来鉴定沙门氏菌毒力的遗传预测因子

Crouse, Alanna; Schramm, Catherine; Emond-Rheault, Jean-Guillaume; Herod, Adrian; Kerhoas, Maud; Rohde, John; Gruenheid, Samantha; Kukavica-Ibrulj, Irena; Boyle, Brian; Greenwood, Celia M T; Goodridge, Lawrence D; Garduno, Rafael; Levesque, Roger C; Malo, Danielle; Daigle, France

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

测量和估计拷贝数变异对社区样本中一般智力的影响大小

Huguet, Guillaume; Schramm, Catherine; Douard, Elise; Jiang, Lai; Labbe, Aurélie; Tihy, Frédérique; Mathonnet, Géraldine; Nizard, Sonia; Lemyre, Emmanuelle; Mathieu, Alexandre; Poline, Jean-Baptiste; Loth, Eva; Toro, Roberto; Schumann, Gunter; Conrod, Patricia; Pausova, Zdenka; Greenwood, Celia; Paus, Tomas; Bourgeron, Thomas; Jacquemont, Sébastien

How to Capitalize on the Retest Effect in Future Trials on Huntington's Disease

如何在未来的亨廷顿病试验中充分利用重测效应

Schramm, Catherine; Katsahian, Sandrine; Youssov, Katia; Démonet, Jean-François; Krystkowiak, Pierre; Supiot, Frédéric; Verny, Christophe; Cleret de Langavant, Laurent; Bachoud-Lévi, Anne-Catherine