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

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report

局限性胎盘嵌合体是肌营养不良症诊断中的一个陷阱:一份临床报告

Sabbagh, Quentin; Larrieux, Marion; Schneider, Anouck; Theze, Corinne; Vincent, Marie-Claire; Coubes, Christine; Puechberty, Jacques; Renard, Sarah; Koenig, Michel; Pellestor, Franck; Cossée, Mireille; Gatinois, Vincent

Reply to Van Opstal D. & Faas B.H.W

回复 Van Opstal D. & Faas BHW

D'Adamo, Pio; Guerci, Veronica Ileana; Fabretto, Antonella; Faletra, Flavio; Grasso, Domenico Leonardo; Ronfani, Luca; Montico, Marcella; Morgutti, Marcello; Guastalla, PierPaolo; Gasparini, Paolo; Sabbagh, Quentin; Larrieux, Marion; Schneider, Anouck; Theze, Corinne; Vincent, Marie-Claire; Coubes, Christine; Puechberty, Jacques; Renard, Sarah; Koenig, Michel; Pellestor, Franck; Cossée, Mireille; Gatinois, Vincent

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia

AP4B1 低效变异体导致常染色体隐性遗传的成人起病型共济失调。

Sabbagh, Quentin; Poblete, Natalia Hernandez; Angelini, Chloé; Hersent, Clément; Benkirane, Mehdi; Pointaux, Morgane; Larrieu, Lise; Castrioto, Anna; Deberge, Louise; Fluchère, Frédérique; Ramond, Francis; Lesca, Gaetan; Koenig, Michel; Goizet, Cyril

Probing ultrafast foam homogenization with grating-based X-ray dark-field imaging

利用基于光栅的X射线暗场成像技术探测超快泡沫均质化过程

Wegert, Leonard; Rauch, Constantin; Schreiner, Stephan; Schneider, Markus; Michel, Thilo; Anton, Gisela; Albertazzi, Bruno; Koenig, Michel; Meyer, Pascal; Fröjdh, Erik; Mozzanica, Aldo; Yang, Yang; Hornung, Johannes; Zielbauer, Bernhard; Martynenko, Artem S; LePape, Sébastien; Funk, Stefan; Neumayer, Paul

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis

母体嵌合体对无创产前诊断的挑战

Comel, Margot; Lamairia, Marina; Boute, Odile; Cenni, Camille; Bergougnoux, Anne; Cossée, Mireille; Koenig, Michel; Mansard, Luke; Vincent, Marie-Claire

Titin copy number variations associated with dominant inherited phenotypes

与显性遗传表型相关的肌联蛋白拷贝数变异

Perrin, Aurélien; Métay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Solé, Guilhem; Péréon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Françoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Maréchal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A; Marttila, Minttu; Koenig, Michel; Beggs, Alan H; Udd, Bjarne; Bonne, Gisèle; Cossée, Mireille

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

SPTAN1单等位基因变异相关疾病不断扩展:从癫痫性脑病到纯痉挛性截瘫和共济失调

Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A; Nizon, Mathilde; Cogne, Benjamin; Jamra, Rami Abu; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonnière, Roger; Magry, Virginie; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Melegh, Béla; Szabó, András; Sümegi, Katalin; Cossée, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry

The inherited cerebellar ataxias: an update

遗传性小脑共济失调:最新进展

Coarelli, Giulia; Wirth, Thomas; Tranchant, Christine; Koenig, Michel; Durr, Alexandra; Anheim, Mathieu

Strong suppression of heat conduction in a laboratory replica of galaxy-cluster turbulent plasmas

实验室模拟星系团湍流等离子体中热传导的强烈抑制

Meinecke, Jena; Tzeferacos, Petros; Ross, James S; Bott, Archie F A; Feister, Scott; Park, Hye-Sook; Bell, Anthony R; Blandford, Roger; Berger, Richard L; Bingham, Robert; Casner, Alexis; Chen, Laura E; Foster, John; Froula, Dustin H; Goyon, Clement; Kalantar, Daniel; Koenig, Michel; Lahmann, Brandon; Li, Chikang; Lu, Yingchao; Palmer, Charlotte A J; Petrasso, Richard D; Poole, Hannah; Remington, Bruce; Reville, Brian; Reyes, Adam; Rigby, Alexandra; Ryu, Dongsu; Swadling, George; Zylstra, Alex; Miniati, Francesco; Sarkar, Subir; Schekochihin, Alexander A; Lamb, Donald Q; Gregori, Gianluca

Altered Expression of Zonula occludens-1 Affects Cardiac Na+ Channels and Increases Susceptibility to Ventricular Arrhythmias

闭塞带-1 表达改变会影响心脏 Na+ 通道并增加室性心律失常的易感性

Mona El Refaey, Sara Coles, Hassan Musa, Tyler L Stevens, Michael J Wallace, Nathaniel P Murphy, Steve Antwi-Boasiako, Lindsay J Young, Heather R Manring, Jerry Curran, Michael A Makara, Kelli Sas, Mei Han, Sara N Koenig, Michel Skaf, Crystal F Kline, Paul M L Janssen, Federica Accornero, Maegen A B