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Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA) X连锁过度自噬肌病（XMEA）患者的临床、形态学和分子特征 Merlet, Angele N.; Lacene, Emmanuelle; Nelson, Isabelle; Brochier, Guy; Labasse, Clemence; Chanut, Anais; Madelaine, Angeline; Beuvin, Maud; Bonne, Gisele; Feasson, Leonard; Minot, Marie-Christine; Noury, Jean-Baptiste; Fradin, Melanie; Savarese, Marco; Fernandez-Eulate, Gorka; Behin, Anthony; Stojkovic, Tanya; Hentschel, Andreas; Marcorelles, Pascale; Roos, Andreas; Evangelista, Teresinha 分享 收藏
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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity Tessarech, Marine; Friocourt, Gaelle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Diaz, Rodrigo Munoz; Mignot, Cyril; Keren, Boris; Heron, Benedicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Abou Jamra, Rami; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnes; Bris, Celine; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle 分享 收藏
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly DOCK4中的杂合功能丧失变体导致神经发育延迟和小头畸形 Herbst, Charlotte; Bothe, Viktoria; Wegler, Meret; Axer-Schaefer, Susanne; Audebert-Bellanger, Severine; Gecz, Jozef; Cogne, Benjamin; Feldman, Hagit Baris; Horn, Anselm H. C.; Hurst, Anna C. E.; Kelly, Melissa A.; Kruer, Michael C.; Kurolap, Alina; Laquerriere, Annie; Li, Megan; Mark, Paul R.; Morawski, Markus; Nizon, Mathilde; Pastinen, Tomi; Polster, Tilman; Saugier-Veber, Pascale; SeSong, Jang; Sticht, Heinrich; Stieler, Jens T.; Thifffault, Isabelle; van Eyk, Clare L.; Marcorelles, Pascale; Vezain-Mouchard, Myriam; Abou Jamra, Rami; Oppermann, Henry 分享 收藏
Moderate Exercise Modulates Inflammatory Responses and Improves Survival in a Murine Model of Acute Pneumonia Vermeersch, Veronique; Leon, Karelle; Caillard, Anais; Szczesnowski, Amandine; Albacete, Gaelle; Marec, Nadege; Tissier, Florine; Gilbert, Guillaume; Droguet, Mickael; Marcorelles, Pascale; Giroux-Metges, Marie-Agnes; Huet, Olivier 分享 收藏
New human in vitro co-culture model of keratinocytes and sensory neurons like cells releasing substance P with an evaluation of the expression of ZIKV entry receptors: A potent opportunity to test Zika virus entry and to study Zika virus' infection in neurons? Bocciarelli, Claire; Cordel, Nadege; Leschiera, Raphael; Talagas, Matthieu; Le Gall-Ianotto, Christelle; Hu, Weiguo; Marcorelles, Pascale; Bellemere, Gaelle; Bredif, Stephanie; Fluhr, Joachim; Misery, Laurent; Lebonvallet, Nicolas 分享 收藏
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Diagnostic utility of a second minor salivary gland biopsy in patients with suspected Sj?gren?s syndrome: A retrospective cohort study Alegria, Guillermo Carvajal; Depinoy, Thibaud; Devauchelle-Pensec, Valerie; Jousse-Joulin, Sandrine; Marhadour, Thierry; Guellec, Dewi; Marcorelles, Pascale; Pers, Jacques-Olivier; Saraux, Alain; Cornec, Divi 分享 收藏
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul 分享 收藏
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Ines A.; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G.; Wever, Eric J. M.; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten G.; Chao, Katherine R.; Cai, Chunyu; Iannaccone, Susan T.; Dean, Andrew F.; McFarland, Robert; Vaz, Frederic M.; Delahodde, Agnes; Taylor, Robert W.; Rotig, Agnes 分享 收藏
Detection of NTRK fusions in glioblastoma: fluorescent in situ hybridisation is more useful than pan-TRK immunohistochemistry as a screening tool prior to RNA sequencing Bourhis, Amelie; Caumont, Charline; Quintin-Roue, Isabelle; Magro, Elsa; Dissaux, Gurvan; Remoue, Annabelle; Le Noac'h, Pierre; Douet-Guilbert, Nathalie; Seizeur, Romuald; Tyulyandina, Alexandra; Schick, Ulrike; Merlio, Jean-Philippe; Marcorelles, Pascale; Cappellen, David; Uguen, Arnaud 分享 收藏
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course Biancalana, Valerie; Rendu, John; Chaussenot, Annabelle; Mecili, Helen; Bieth, Eric; Fradin, Melanie; Mercier, Sandra; Michaud, Maud; Nougues, Marie-Christine; Pasquier, Laurent; Sacconi, Sabrina; Romero, Norma B.; Marcorelles, Pascale; Authier, Francois Jerome; Gelot Bernabe, Antoinette; Uro-Coste, Emmanuelle; Cances, Claude; Isidor, Bertrand; Magot, Armelle; Minot-Myhie, Marie-Christine; Pereon, Yann; Perrier-Boeswillwald, Julie; Bretaudeau, Gilles; Dondaine, Nicolas; Bouzenard, Alison; Pizzimenti, Megane; Eymard, Bruno; Ferreiro, Ana; Laporte, Jocelyn; Faure, Julien; Bohm, Johann 分享 收藏
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants Marguet, Florent; Vezain, Myriam; Marcorelles, Pascale; Audebert-Bellanger, Severine; Cassinari, Kevin; Drouot, Nathalie; Chambon, Pascal; Gonzalez, Bruno J.; Horowitz, Arie; Laquerriere, Annie; Saugier-Veber, Pascale 分享 收藏
Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease Klein, Julie; Buffin-Meyer, Benedicte; Boizard, Franck; Moussaoui, Nabila; Lescat, Ophelie; Breuil, Benjamin; Fedou, Camille; Feuillet, Guylene; Casemayou, Audrey; Neau, Eric; Hindryckx, An; Decatte, Luc; Levtchenko, Elena; Raaijmakers, Anke; Vayssiere, Christophe; Goua, Valerie; Lucas, Charlotte; Perrotin, Franck; Cloarec, Sylvie; Benachi, Alexandra; Manca-Pellissier, Marie-Christine; Delmas, Helene Laurichesse; Bessenay, Lucie; Le Vaillant, Claudine; Allain-Launay, Emma; Gondry, Jean; Boudailliez, Bernard; Simon, Elisabeth; Prieur, Fabienne; Lavocat, Marie-Pierre; Saliou, Anne-Helene; De Parscau, Loic; Bidat, Laurent; Noel, Catherine; Floch, Corinne; Bourdat-Michel, Guylene; Favre, Romain; Weingertner, Anne-Sophie; Oury, Jean-Francois; Baudouin, Veronique; Bory, Jean-Paul; Pietrement, Christine; Fiorenza, Maryse; Massardier, Jerome; Kessler, Sylvie; Lounis, Nadia; Auriol, Francoise Conte; Marcorelles, Pascale; Collardeau-Frachon, Sophie; Zurbig, Petra; Mischak, Harald; Magalhaes, Pedro; Batut, Julie; Blader, Patrick; Blache, Jean-Sebastien Saulnier; Bascands, Jean-Loup; Schaefer, Franz; Decramer, Stephane; Schanstra, Joost P. 分享 收藏
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