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

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

FSD1L基因的双等位基因变异会导致一种与L1综合征症状重叠的神经发育障碍。

Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

对患有过度自噬的 X 连锁肌病 (XMEA) 的患者进行临床、形态学和分子特征分析。

Merlet Angèle N, Lacène Emmanuelle, Nelson Isabelle, Brochier Guy, Labasse Clémence, Chanut Anais, Madelaine Angeline, Beuvin Maud, Bonne Gisèle, Féasson Léonard, Minot Marie-Christine, Noury Jean-Baptiste, Fradin Mélanie, Savarese Marco, Fernández-Eulate Gorka, Behin Anthony, Stojkovic Tanya, Hentschel Andreas, Marcorelles Pascale, Roos Andreas, Evangelista Teresinha

Negative Xpert HPV Test (Cepheid) With Late Amplification Signals: Is There a Clinical Significance? (the PaPCR Study)

Xpert HPV 检测(Cepheid)结果为阴性但出现晚期扩增信号:这是否具有临床意义?(PaPCR 研究)

Lemoine, Valentin; Legros, Romain; Rosec, Sylvain; Salaun, Camille; Tran-Minoui, Adissa; Pilorgé, Léa; Vallet, Sophie; Le Gourrierec, Anne; Alemany, Pierre; Marcorelles, Pascale; Payan, Christopher

Fluorescent In Situ Hybridization Testing Allows the Diagnosis of NRG1 Gene Fusions in Lung and Pancreas Cancers with No Other Identified Oncogenic Driver

荧光原位杂交检测能够诊断肺癌和胰腺癌中NRG1基因融合,而无需其他已知的致癌驱动基因。

Bastard, Clara; Caumont, Charline; Samaison, Laura; Quintin-Roué, Isabelle; Doucet, Laurent; Marcorelles, Pascale; Le Maréchal, Cédric; Merlio, Jean-Philippe; Cappellen, David; Uguen, Arnaud

Moderate Exercise Modulates Inflammatory Responses and Improves Survival in a Murine Model of Acute Pneumonia

适度运动可调节炎症反应并提高急性肺炎小鼠模型的存活率

Veronique Vermeersch ,Karelle Léon ,Anais Caillard ,Amandine Szczesnowski ,Gaëlle Albacete ,Nadege Marec ,Florine Tissier ,Guillaume Gilbert ,Mickael Droguet ,Pascale Marcorelles ,Marie-Agnes Giroux-Metges ,Olivier Huet

The Histopathological "Placentitis Triad" Is Specific for SARS-CoV-2 Infection, and Its Acute Presentation Can Be Associated with Poor Fetal Outcome

组织病理学上的“胎盘炎三联征”是SARS-CoV-2感染的特异性表现,其急性发作可能与不良胎儿结局相关。

Remoué, Annabelle; Suazo, Yurina; Uguen, Marie; Uguen, Arnaud; Marcorelles, Pascale; de Moreuil, Claire

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

HNRNPA2B1基因的杂合移码变异会导致早发性眼咽肌营养不良症

Hong Joo Kim # ,Payam Mohassel # ,Sandra Donkervoort ,Lin Guo ,Kevin O'Donovan ,Maura Coughlin ,Xaviere Lornage ,Nicola Foulds ,Simon R Hammans ,A Reghan Foley ,Charlotte M Fare ,Alice F Ford ,Masashi Ogasawara ,Aki Sato ,Aritoshi Iida ,Pinki Munot ,Gautam Ambegaonkar ,Rahul Phadke ,Dominic G O'Donovan ,Rebecca Buchert ,Mona Grimmel ,Ana Töpf ,Irina T Zaharieva ,Lauren Brady ,Ying Hu ,Thomas E Lloyd ,Andrea Klein ,Maja Steinlin ,Alice Kuster ,Sandra Mercier ,Pascale Marcorelles ,Yann Péréon ,Emmanuelle Fleurence ,Adnan Manzur ,Sarah Ennis ,Rosanna Upstill-Goddard ,Luca Bello ,Cinzia Bertolin ,Elena Pegoraro ,Leonardo Salviati ,Courtney E French ,Andriy Shatillo ,F Lucy Raymond ,Tobias B Haack ,Susana Quijano-Roy ,Johann Böhm ,Isabelle Nelson ,Tanya Stojkovic ,Teresinha Evangelista ,Volker Straub ,Norma B Romero ,Jocelyn Laporte ,Francesco Muntoni ,Ichizo Nishino ,Mark A Tarnopolsky ,James Shorter ,Carsten G Bönnemann ,J Paul Taylor

Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses

人类胎儿暴露于酒精后,少突胶质细胞谱系受到严重影响

Florent Marguet, Mélanie Brosolo, Gaëlle Friocourt, Fanny Sauvestre, Pascale Marcorelles, Céline Lesueur, Stéphane Marret, Bruno J Gonzalez, Annie Laquerrière

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

ATP5PO 中的纯合剪接变体会破坏线粒体复合体 V 的功能,并在两个不相关的家庭中引起 Leigh 综合征

Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli-Dipple, Cécile Voisset, Melissa A Walker, Lauren C Briere, Amélie Bourhis, Marc Blond

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

TAMM41基因的双等位基因变异与肌肉中心磷脂水平低下相关,进而导致新生儿线粒体疾病。

Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Inês A; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G; Wever, Eric J M; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bönnemann, Carsten G; Chao, Katherine R; Cai, Chunyu; Iannaccone, Susan T; Dean, Andrew F; McFarland, Robert; Vaz, Frédéric M; Delahodde, Agnès; Taylor, Robert W; Rötig, Agnès