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

Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中肌肉胆固醇转运失调

Delphine Sapaly ,Flore Cheguillaume ,Laure Weill ,Zoé Clerc ,Olivier Biondi ,Sabrina Bendris ,Céline Buon ,Rasha Slika ,Elsie Piller ,Venkat Krishnan Sundaram ,Andreia da Silva Ramos ,Maria Del Mar Amador ,Timothée Lenglet ,Rabab Debs ,Nadine Le Forestier ,Pierre-François Pradat ,François Salachas ,Lucette Lacomblez ,Adèle Hesters ,Didier Borderie ,David Devos ,Claude Desnuelle ,Anne-Sophie Rolland ,Baptiste Periou ,Stéphane Vasseur ,Maud Chapart ,Isabelle Le Ber ,Anne-Laure Fauret-Amsellem ,Stéphanie Millecamps ,Thierry Maisonobe ,Sarah Leonard-Louis ,Anthony Behin ,François-Jérôme Authier ,Teresinha Evangelista ,Frédéric Charbonnier ,Gaëlle Bruneteau

MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights

肌萎缩侧索硬化症中的MAPT基因突变:临床、神经病理学和功能方面的见解

De Bertier, Sibylle; Lautrette, Géraldine; Amador, Maria-Del-Mar; Miki, Tomoko; Boillée, Séverine; Lobsiger, Christian Stefan; Bohl, Delphine; Darios, Frederic; Machat, Selma; Duchesne, Mathilde; Vourc'h, Patrick; Fauret-Amsellem, Anne-Laure; Corcia, Philippe; Guy, Nathalie; Couratier, Philippe; Seilhean, Danielle; Millecamps, Stéphanie

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study

法国ALS人群中SOD1和C9orf72变异体的患病率:GENIALS研究

Corcia, P; Erazo, D; Amador, M D M; Beltran, S; Bernard, E; Blasco, H; Boutoleau-Bretonniere, C; Bruneteau, G; Camdessanche, J P; Camu, W; Cassereau, J; Choumert, A; Codron, P; Cintas, P; De La Cruz, E; Danel, V; Desnuelle, C; Eyraud, N; Esselin, F; Fauret, A L; Lefilliatre, M; Fleury, M C; Genestet, S; Grapperon, A M; Guy, N; Jacquin-Piques, A; Beauvais, K; Lautrette, G; Le Masson, G; Mathis, S; Piegay, A S; Pittion-Vouyovitch, S; Sauleau, P; Soriani, M H; Vershueren, A; Mouzat, K; Guissart, C; Couratier, P; Vourc'h, P

The Two Faces of Pediatric SCA2

儿童SCA2的两面性

Rive Le Gouard, Nicolas; G Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne-Laure; de Sainte-Agathe, Jean-Madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J A Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril

CAG repeat mosaicism is gene specific in spinocerebellar ataxias

CAG重复序列嵌合现象在脊髓小脑性共济失调中具有基因特异性。

Radhia Kacher ,François-Xavier Lejeune ,Isabelle David ,Susana Boluda ,Giulia Coarelli ,Sabrina Leclere-Turbant ,Anna Heinzmann ,Cecilia Marelli ,Perrine Charles ,Cyril Goizet ,Nisha Kabir ,Rania Hilab ,Ludmila Jornea ,Julie Six ,Marc Dommergues ,Anne-Laure Fauret ,Alexis Brice ,Sandrine Humbert ,Alexandra Durr

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3

共济失调前期和早期脊髓小脑性共济失调1型和3型患者的基线临床和血液生物标志物

Tezenas du Montcel, Sophie; Petit, Emilien; Olubajo, Titilayo; Faber, Jennifer; Lallemant-Dudek, Pauline; Bushara, Khalaf; Perlman, Susan; Subramony, Sub H; Morgan, David; Jackman, Brianna; Figueroa, Karla P; Pulst, Stefan M; Fauret-Amsellem, Anne-Laure; Dufke, Claudia; Paulson, Henry Lauris; Öz, Gülin; Klockgether, Thomas; Durr, Alexandra; Ashizawa, Tetsuo

Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism

在外显子组数据集中检测到 ATXN2 扩增:帕金森病的一种未被充分诊断的病因

Casse, Fanny; Courtin, Thomas; Tesson, Christelle; Ferrien, Mélanie; Noël, Sandrine; Fauret-Amsellem, Anne-Laure; Gareau, Thomas; Guegan, Justine; Anheim, Mathieu; Mariani, Louise-Laure; Le Forestier, Nadine; Tranchant, Christine; Corvol, Jean-Christophe; Lesage, Suzanne; Brice, Alexis

Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

米切尔-莱利综合征:改善临床结果并探寻RFX-6突变的功能影响

Passone, Caroline de Gouveia Buff; Vermillac, Gaëlle; Staels, Willem; Besancon, Alix; Kariyawasam, Dulanjalee; Godot, Cécile; Lambe, Cécile; Talbotec, Cécile; Girard, Muriel; Chardot, Christophe; Berteloot, Laureline; Hachem, Taymme; Lapillonne, Alexandre; Poidvin, Amélie; Storey, Caroline; Neve, Mathieu; Stan, Cosmina; Dugelay, Emmanuelle; Fauret-Amsellem, Anne-Laure; Capri, Yline; Cavé, Hélène; Ybarra, Marina; Chandra, Vikash; Scharfmann, Raphaël; Bismuth, Elise; Polak, Michel; Carel, Jean Claude; Pigneur, Bénédicte; Beltrand, Jacques

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants

由双等位基因 SCO2 变异引起的成人小脑共济失调、轴突神经病变和感觉障碍

Rucheton, Benoit; Ewenczyk, Claire; Gaignard, Pauline; de Sainte Agathe, Jean-Madeleine; Fauret, Anne-Laure; Saillour, Virginie; Leonard-Louis, Sarah; Touitou, Valerie; Mochel, Fanny

Use of vector control to protect people from sleeping sickness in the focus of Bonon (Côte d'Ivoire)

在科特迪瓦博农地区利用病媒控制来保护人们免受昏睡病的侵害

Kaba, Dramane; Djohan, Vincent; Berté, Djakaridja; Ta, Bi Tra Dieudonné; Selby, Richard; Kouadio, Koffi Alain De Marie; Coulibaly, Bamoro; Traoré, Gabehonron; Rayaisse, Jean-Baptiste; Fauret, Pierre; Jamonneau, Vincent; Lingue, Kouakou; Solano, Phillipe; Torr, Steve J; Courtin, Fabrice