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

Neuropathological analysis of an ALS patient carrying a SOD1 missense variant and a C9orf72 repeat expansion

对一名携带 SOD1 错义变异和 C9orf72 重复扩增的 ALS 患者进行神经病理学分析

Miki, Tomoko; De Bertier, Sibylle; Amador, Maria-Del-Mar; Nicolas, Mélusine; Guissart, Claire; Deret, Marion; Teyssou, Elisa; Muratet, François; Bohl, Delphine; Lobsiger, Christian S; Boillée, Séverine; Esselin, Florence; Salachas, François; Millecamps, Stéphanie; Seilhean, Danielle

Role of clonal inflammatory microglia in histiocytosis-associated neurodegeneration

克隆性炎症小胶质细胞在组织细胞增生症相关神经退行性变中的作用

Rocio Vicario ,Stamatina Fragkogianni ,Maria Pokrovskii ,Carina Meyer ,Estibaliz Lopez-Rodrigo ,Yang Hu ,Masato Ogishi ,Araitz Alberdi ,Ann Baako ,Oyku Ay ,Isabelle Plu ,Véronique Sazdovitch ,Sebastien Heritier ,Fleur Cohen-Aubart ,Natalia Shor ,Makoto Miyara ,Florence Nguyen-Khac ,Agnes Viale ,Ahmed Idbaih ,Zahir Amoura ,Marc K Rosenblum ,Haochen Zhang ,Elias-Ramzey Karnoub ,Palash Sashittal ,Akhil Jakatdar ,Christine A Iacobuzio-Donahue ,Omar Abdel-Wahab ,Viviane Tabar ,Nicholas D Socci ,Olivier Elemento ,Eli L Diamond ,Bertrand Boisson ,Jean-Laurent Casanova ,Danielle Seilhean ,Julien Haroche ,Jean Donadieu ,Frederic Geissmann

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

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

内含子FGF14 GAA重复序列扩增影响多系统萎缩的进展和生存

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laß, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry

The SARS-CoV-2 envelope PDZ binding motif acts as a virulence factor disrupting host's epithelial cell-cell junctions.

SARS-CoV-2 包膜 PDZ 结合基序作为一种毒力因子,会破坏宿主的上皮细胞-细胞连接

Alvarez Flavio, de Melo Guilherme Dias, Larrous Florence, Kergoat Lauriane, Boëda Batiste, Michel Vincent, Seilhean Danielle, Tichit Magali, Hing David, Hardy David, Kornobis Etienne, Bourhy Hervé, Wolff Nicolas, Caillet-Saguy Célia

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

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers

对与多聚谷氨酰胺疾病相关的短串联重复序列进行全基因组测序分析发现,HTT 的中间等位基因与 C9orf72 携带者的疾病早期发作相关。

Barbier, Mathieu; Gareau, Thomas; Camuzat, Agnès; Guillaud-Bataille, Marine; Boluda, Susana; Clot, Fabienne; Araktingi, Lara; Borroni, Barbara; van der Zee, Julie; Ghidoni, Roberta; Bellini, Sonia; Galimberti, Daniela; Rossi, Giacomina; Nacmias, Benedetta; De la Casa-Fages, Beatriz; Pastor, Pau; Latouche, Morwena; le Guern, Eric; Durr, Alexandra; Laquerrière, Annie; Moccia, Rob; Seilhean, Danielle; Alvarez, Victoria; Le Ber, Isabelle

Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients

两例患者以脱髓鞘性神经病变作为家族性E200K克雅氏病的首发表现

Delorme, Cécile; Pégat, Antoine; Theuriet, Julian; Brandel, Jean-Philippe; Roze, Emmanuel; Viala, Karine; Zyss, Julie; Thobois, Stéphane; Fourier, Anthony; Bernard, Emilien; Svahn, Juliette; Laurencin, Chloé; Jaulent, Paul; Vandendries, Christophe; Quadrio, Isabelle; Desestret, Virginie; Meyronet, David; Maisonobe, Thierry; Haïk, Stéphane; Seilhean, Danielle

Diagnostic Yield of Next-Generation Sequencing in CSF or Brain Biopsy for Severe Encephalitis Requiring Intensive Care

重症脑炎重症监护患者脑脊液或脑活检中下一代测序的诊断率

Benghanem, Sarah; Pérot, Philippe; Rodriguez, Christophe; Fourgeaud, Jacques; Bouguerra, Meriem; Mathon, Bertrand; Seilhean, Danielle D; Bielle, Franck; Plu, Isabelle; Jamet, Anne; Weiss, Nicolas; Marois, Clémence; Rohaut, Benjamin; Eloit, Marc; Demeret, Sophie

Monocytic meningitis complicating histiocytosis and response to MEK-inhibitor: a case series

组织细胞增生症并发单核细胞性脑膜炎及对MEK抑制剂的反应:病例系列

Abrassart, Tom; Idbaih, Ahmed; Roos-Weil, Damien; Galanaud, Damien; Cohen-Aubart, Fleur; Emile, Jean-François; Boncoeur, Pierre; Amoura, Zahir; Seilhean, Danielle; Haroche, Julien; Papo, Matthias