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

Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the HSD17B10 gene: case report

成人17β-羟类固醇脱氢酶10型(HSD10)缺乏症病例报告,该病由HSD17B10基因p.Arg130Cys突变引起:病例报告

Khodawrdi, Alyaa; Mekki, Chadia; Lunati-Rozie, Ariane; Funalot, Benoît

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

神经纤维瘤病1型患者NF1点变异的精细基因型-表型相关性

Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus P G; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric

A new staging system for hereditary transthyretin amyloidosis in the era of specific amyloidosis therapies

在特异性淀粉样变性疗法时代,遗传性转甲状腺素蛋白淀粉样变性的一种新的分期系统

Neculae, Gabriela; Zaroui, Amira; Adam, Robert; Kharoubi, Mounira; Funalot, Benoit; Coriu, Daniel; Jurcut, Ruxandra; Damy, Thibaud

Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review

弗里德赖希共济失调临床试验中的临床和认知评估:一项综述

Darriba, Álvaro; Munnich, Arnold; Cardoso-Leite, Pedro; Funalot, Benoît; Waszak, Florian

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

型神经纤维瘤病的产前诊断和生殖系嵌合体的陷阱

Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, 

Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathy

转甲状腺素蛋白心肌病老年和非老年患者的表型和预后因素

Volpentesta, Eugenia; Kharoubi, Mounira; Donadio, Cristiano; Rebiai, Kahina; Fanen, Pascale; Funalot, Benoit; Gendre, Thierry; Audard, Vincent; Canoui-Poitrine, Florence; Itti, Emmanuel; Teiger, Emmanuel; Planté-Bordeneuve, Violaine; Oghina, Silvia; Tixier, Denis; Mallet, Sophie; Broussier, Amaury; Damy, Thibaud; Zaroui, Amira

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies

改善法国转甲状腺素蛋白淀粉样变性基因检测途径:挑战与策略

Hebrard, Bérénice; Babonneau, Marie-Lise; Charron, Philippe; Consolino, Emilie; Dauriat, Benjamin; Dupin-Deguine, Delphine; Fargeaud, Dominique; Farrugia, Agnès; Giguet-Valard, Anna-Gaëlle; Guijarro, Damien; Inamo, Jocelyn; Jeanneteau, Julien; Mazzella, Jean-Michaël; Michon, Claire-Cécile; Millat, Gilles; Mouquet, Frédéric; Oghina, Silvia; Pereon, Yann; Poinsignon, Vianney; Pompougnac, Julie; Proukhnitzky, Julie; Schaefer, Elise; Sturtz, Franck; Trosdorf, Mathilde; Auguste, Anne; Canali, Giorgia; Combes, Alexandre; Funalot, Benoît; Damy, Thibaud

Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

SLC5A6基因中反复出现的“外来”内含子变异导致来自马格里布地区的3个家族出现严重的混合性轴索性和脱髓鞘性神经病变、周期性呕吐和视神经萎缩。

Mansour-Hendili, Lamisse; Gitiaux, Cyril; Harion, Madeleine; Latouche, Céline; Heron, Bénédicte; Stojkovic, Tanya; Rama, Mélanie; Smol, Thomas; Sophie Jourdain, Anne; Mention, Karine; Nadjar, Yann; Schiff, Manuel; Lemale, Julie; Ghoumid, Jamal; Gottrand, Frédéric; Talbotec, Cécile; Rötig, Agnès; Funalot, Benoît; Desguerre, Isabelle

Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis

Amylo-AFFECT-QOL 是一种用于评估健康相关生活质量并确定心脏淀粉样变性预后的自评问卷。

Kharoubi, Mounira; Bézard, Mélanie; Broussier, Amaury; Galat, Arnault; Gounot, Romain; Poullot, Elsa; Molinier-Frenkel, Valérie; Fanen, Pascale; Funalot, Benoit; Itti, Emmanuel; Lemonnier, François; Sing Chadha, Gagan Deep; Guendouz, Soulef; Mallet, Sophie; Zaroui, Amira; Audard, Vincent; Audureau, Etienne; Le Corvoisier, Philippe; Hittinger, Luc; Planté Bordeneuve, Violaine; Lefaucheur, Jean-Pascal; Amiot, Aurélien; Bequignon, Emilie; Bartier, Sophie; Leroy, Vincent; Teiger, Emmanuel; Oghina, Silvia; Damy, Thibaud