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

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases

新冠病毒感染对遗传性代谢疾病患者的影响:法国罕见病医疗网络 (IMDs Healthcare Network for Rare Diseases) 的一项全国多中心研究

Douillard, Claire; Poujois, Aurélia; Belmatoug, Nadia; Lidove, Olivier; Leguy-Seguin, Vanessa; Mauhin, Wladimir; Gorce, Magali; Cano, Aline; Labrune, Philippe; Mazodier, Karin; Wicker, Camille; Maillot, François; Brassier, Anaïs; Guemann, Anne-Sophie; Habes, Dalila; Abi-Warde, Marie-Thérèse; Redonnet-Vernhet, Isabelle; Germain, Dominique P; Lavigne, Christian; Khemiri, Azza; Mention, Karine; Dao, Myriam; Héron, Bénédicte; Berger, Marc G; Lonlay, Pascale de

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency

儿童期发病的DNA聚合酶γ缺乏症具有独特的临床病程和缩短的寿命

Rötig, Agnès; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Léna; Laborde, Nolwenn; Abi-Warde, Marie-Thérèse; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Véronique; Bonnemains, Chrystèle; Broue, Pierre; De Saint-Martin, Anne; Durand, Philippe; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Hélène; Mention, Karine; Odent, Sylvie S; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

功能和临床研究揭示了CLCN4相关神经发育障碍的病理生理复杂性

Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S; Chedrawi, Aziza; Hashem, Mais O; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M; Sands, Tristan T; Wilson, Golder N; Silvertooth, Erin J; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H; Ockeloen, Charlotte W; Pfundt, Rolph; Kroft, Sanne D; Field, Michael; Laranjeira, Francisco E R; Fortuna, Ana M; Soares, Ana R; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D; Bird, Lynne M; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe M; Blazo, Maria; Bijlsma, Emilia K; Rosenfeld, Jill A; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb S; Armstrong, Ruth; Kalscheuer, Vera M

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Arg338* AP4M1 (SPG50) 变异体可能具有创始人效应,导致严重智力障碍、癫痫和痉挛性截瘫:三个家族的报告

Becker, Aurélie; Felici, Charlotte; Lambert, Laëtitia; de Saint Martin, Anne; Abi-Warde, Marie-Thérèse; Schaefer, Elise; Zix, Christian; Zamani, Mina; Sadeghian, Saeid; Zeighami, Jawaher; Seifi, Tahereh; Azizimalamiri, Reza; Shariati, Gholamreza; Galehdari, Hamid; Selig, Mareike; Ding, Can; Duerinckx, Sarah; Pirson, Isabelle; Abramowicz, Marc; Clément, Guillemette; Leheup, Bruno; Jonveaux, Philippe; Lefort, Geneviève; Bronner, Myriam; Renaud, Mathilde; Bonnet, Céline

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

MED11 C 端纯合变异会导致致命的神经退行性疾病

Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Andrea Accogli; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Şahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry

The different clinical facets of SYN1-related neurodevelopmental disorders

SYN1相关神经发育障碍的不同临床表现

Parenti, Ilaria; Leitão, Elsa; Kuechler, Alma; Villard, Laurent; Goizet, Cyril; Courdier, Cécile; Bayat, Allan; Rossi, Alessandra; Julia, Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Nambot, Sophie; Lehalle, Daphné; Willems, Marjolaine; Lespinasse, James; Ghoumid, Jamal; Caumes, Roseline; Smol, Thomas; El Chehadeh, Salima; Schaefer, Elise; Abi-Warde, Marie-Thérèse; Keren, Boris; Afenjar, Alexandra; Tabet, Anne-Claude; Levy, Jonathan; Maruani, Anna; Aledo-Serrano, Ángel; Garming, Waltraud; Milleret-Pignot, Clara; Chassevent, Anna; Koopmans, Marije; Verbeek, Nienke E; Person, Richard; Belles, Rebecca; Bellus, Gary; Salbert, Bonnie A; Kaiser, Frank J; Mazzola, Laure; Convers, Philippe; Perrin, Laurine; Piton, Amélie; Wiegand, Gert; Accogli, Andrea; Brancati, Francesco; Benfenati, Fabio; Chatron, Nicolas; Lewis-Smith, David; Thomas, Rhys H; Zara, Federico; Striano, Pasquale; Lesca, Gaetan; Depienne, Christel

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

塞贝利酶α酶替代疗法治疗沃尔曼病:一项全国性队列研究,随访时间长达十年

Demaret, Tanguy; Lacaille, Florence; Wicker, Camille; Arnoux, Jean-Baptiste; Bouchereau, Juliette; Belloche, Claire; Gitiaux, Cyril; Grevent, David; Broissand, Christine; Adjaoud, Dalila; Abi Warde, Marie-Thérèse; Plantaz, Dominique; Bekri, Soumeya; de Lonlay, Pascale; Brassier, Anaïs

Defining the phenotypic spectrum of SLC6A1 mutations

确定SLC6A1突变的表型谱

Johannesen, Katrine M; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna-Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie-Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J Lawrence 2nd; Rodan, Lance H; Tan, Wen-Hann; Bird, Lynne M; Nespeca, Mark; Gleeson, Joseph G; Yoo, Yongjin; Choi, Murim; Chae, Jong-Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S; Schelhaas, Helenius J; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E; Pisani, Laura; Myers, Candace T; Tang, Sha; Tang, Shan; Pal, Deb K; Millichap, John J; Carvill, Gemma L; Helbig, Kathrine L; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C; Møller, Rikke S

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency

酮体可作为丙酮酸脱氢酶缺乏症患者生酮饮食的潜在辅助剂,但对谷氨酸转运蛋白1缺乏症患者无效

Habarou, F; Bahi-Buisson, N; Lebigot, E; Pontoizeau, C; Abi-Warde, M T; Brassier, A; Le Quan Sang, K H; Broissand, C; Vuillaumier-Barrot, S; Roubertie, A; Boutron, A; Ottolenghi, C; de Lonlay, P