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

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease

亨廷顿病中HTT基因小CAG重复序列扩增的序列变异与疾病发生和进展的关系

Heinzmann, Anna; Petit, Emilien; Dawson, Jessica; Kay, Chris; Davoine, Claire-Sophie; Méreaux, Jean-Loup; Black, Hailey Findlay; Arning, Larissa; Nguyen, Huu Phuc; Coarelli, Giulia; Sayah, Sabrina; Pariente, Jeremie; Gérard, Fleur; Hurmic, Hortense; Hayden, Michael R; Durr, Alexandra

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

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France

PERIGENOMED-CLINICS 1——首个关于 PERIGENOMED 可行性、接受度和心理社会影响的研究:一项旨在为基于基因组测序的筛查方法在法国新生儿筛查 (NBS) 中的相关性提供初步具体证据的试点项目

Level, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frédéric; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlène; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Véronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Léa; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stéphane; Pasquier, Laurent; Huet, Frédéric; Faivre, Laurence

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

FGF14 GAA 扩增导致小脑共济失调的临床和遗传关键

Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Luc

Banking elites and the transformation of capitalism in Switzerland: A prosopographic analysis (1890-2020)

瑞士银行业精英与资本主义转型:人物志分析(1890-2020)

Araujo, Pedro; Davoine, Eric; Donzé, Pierre-Yves

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

Supra-orbital whiskers act as wind-sensing antennae in rats

大鼠的眶上胡须起到感知风向的作用。

Mugnaini, Matias; Mehrotra, Dhruv; Davoine, Federico; Sharma, Varun; Mendes, Ana Rita; Gerhardt, Ben; Concha-Miranda, Miguel; Brecht, Michael; Clemens, Ann M

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia

IRF2BPL 会导致轻度智力障碍,随后出现迟发性共济失调

Heide, Solveig; Davoine, Claire-Sophie; Cunha, Paulina; Scherer-Gagou, Clarisse; Keren, Boris; Stevanin, Giovanni; Charles, Perrine; Heron, Delphine; Brice, Alexis; Durr, Alexandra

D-type K+ current rules the function of electrically coupled neurons in a species-specific fashion

D型钾离子电流以物种特异性的方式控制着电耦合神经元的功能。

Dapino, Antonella; Davoine, Federico; Curti, Sebastian

The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects

阿尔茨海默病易感基因BIN1通过早期内体缺陷诱导亚型依赖性神经毒性。

Erwan Lambert # ,Orthis Saha # ,Bruna Soares Landeira ,Ana Raquel Melo de Farias ,Xavier Hermant ,Arnaud Carrier ,Alexandre Pelletier ,Johanna Gadaut ,Lindsay Davoine ,Cloé Dupont ,Philippe Amouyel ,Amélie Bonnefond ,Frank Lafont ,Farida Abdelfettah ,Patrik Verstreken ,Julien Chapuis ,Nicolas Barois ,Fabien Delahaye ,Bart Dermaut ,Jean-Charles Lambert ,Marcos R Costa # ,Pierre Dourlen #