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

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

Biochemical characterization of the Escherichia coli surfaceome: a focus on type I fimbriae and flagella

大肠杆菌表面组的生化表征:重点关注 I 型菌毛和鞭毛

Devon W Kavanaugh, Adeline Sivignon, Yannick Rossez, Zina Chouit, Christophe Chambon, Louane Béal, Mathilde Bonnet, Michel Hébraud, Yann Guérardel, Hang Thi Thu Nguyen #, Nicolas Barnich #

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics

GAA-FGF14 迟发性小脑共济失调 (SCA27B) 的神经病变:患病率和特征

Theuriet, Julian; Paulet, Lukas; Acket, Blandine; Ory-Magne, Fabienne; Belbachir, Hocine; Chanson, Jean-Baptiste; Bouhour, Françoise; Laurencin, Chloé; Froment Tilikete, Caroline; Lardeux, Pierre; Clement, Guillemette; Hocquel, Armand; Renaud, Mathilde; Bonnet, Céline; Marelli, Cecilia; Weber, Sacha; Comet, Camille; Azulay, Jean-Philippe; Fluchère, Frédérique; Coarelli, Giulia; Heinzmann, Anna; Ewenczyk, Claire; Verny, Christophe; Guillet-Pichon, Virginie; Guyant-Marechal, Lucie; Desjardins, Clément; Riou, Audrey; Degos, Bertrand; Mercier, Sandra; Goizet, Cyril; Degoutin, Manon; Angelini, Chloé; Laurens, Brice; Degardin, Adrian; Carrière, Nicolas; Le Guyader, Gwenaël; Schneider, Vincent; Dupont, Gwendoline; Thomas, Quentin; Merindol, Maxime; Besse-Pinot, Elsa; Méneret, Aurélie; Roze, Emmanuel; Durr, Alexandra; Thobois, Stéphane; Anheim, Mathieu; Wirth, Thomas; Pegat, Antoine

Advancing fine branch biomass estimation with lidar and structural models

利用激光雷达和结构模型推进细枝生物量估算

Millan, Mathilde; Bonnet, Alexis; Dauzat, Jean; Vezy, Rémi

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

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

Transcatheter Management of Pulmonary Sequestrations in Children-A Single-Center Experience

儿童肺隔离症的经导管治疗——单中心经验

Abu Zahira, Ibrahim; Haddad, Raymond N; Meot, Mathilde; Bonnet, Damien; Malekzadeh-Milani, Sophie

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

患有先天性T细胞CD28缺陷的人类易感染皮肤乳头瘤病毒,但其他方面都很健康。

Vivien Béziat,Franck Rapaport,Jiafen Hu,Matthias Titeux,Mathilde Bonnet des Claustres,Mathieu Bourgey,Heather Griffin,Élise Bandet,Cindy S Ma,Roya Sherkat,Hassan Rokni-Zadeh,David M Louis,Majid Changi-Ashtiani,Ottavia M Delmonte,Toshiaki Fukushima,Tanwir Habib,Andrea Guennoun,Taushif Khan,Noemi Bender,Mahbuba Rahman,Frédégonde About,Rui Yang,Geetha Rao,Claire Rouzaud,Jingwei Li,Debra Shearer,Karla Balogh,Fatima Al Ali,Manar Ata,Soroosh Dabiri,Mana Momenilandi,Justine Nammour,Marie-Alexandra Alyanakian,Marianne Leruez-Ville,David Guenat,Marie Materna,Léa Marcot,Natasha Vladikine,Christine Soret,Hassan Vahidnezhad,Leila Youssefian,Amir Hossein Saeidian,Jouni Uitto,Émilie Catherinot,Shadi Sadat Navabi,Mohammed Zarhrate,David T Woodley,Mohamed Jeljeli,Thomas Abraham,Serkan Belkaya,Lazaro Lorenzo,Jérémie Rosain,Mousa Bayat,Fanny Lanternier,Olivier Lortholary,Faramarz Zakavi,Philippe Gros,Gérard Orth,Laurent Abel,Jean-Luc Prétet,Sylvie Fraitag,Emmanuelle Jouanguy,Mark M Davis,Stuart G Tangye,Luigi D Notarangelo,Nico Marr,Tim Waterboer,David Langlais,John Doorbar,Alain Hovnanian,Neil Christensen,Xavier Bossuyt,Mohammad Shahrooei,Jean-Laurent Casanova

Secukinumab Therapy for Netherton Syndrome

苏金单抗治疗 Netherton 综合征

Isabelle Luchsinger, Nicole Knöpfel, Martin Theiler, Mathilde Bonnet des Claustres, Claire Barbieux, Agnes Schwieger-Briel, Corinne Brunner, Davide Donghi, Michael Buettcher, Barbara Meier-Schiesser, Alain Hovnanian, Lisa Weibel

Fecal dysbiosis associated with colonic hypersensitivity and behavioral alterations in chronically Blastocystis-infected rats

慢性芽囊原虫感染大鼠的粪便菌群失调与结肠过敏和行为改变相关

Manon Defaye, Céline Nourrisson, Elodie Baudu, Amandine Lashermes, Maëva Meynier, Mathieu Meleine, Ivan Wawrzyniak, Virginie Bonnin, Julie Barbier, Benoit Chassaing, Catherine Godfraind, Agathe Gelot, Nicolas Barnich, Denis Ardid, Mathilde Bonnet, Frédéric Delbac, Frédéric Antonio Carvalho #, Philip