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

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

ATXN2中间多聚谷氨酰胺(polyQ)扩增在多种神经退行性疾病中的作用

Lattante, Serena; Millecamps, Stéphanie; Stevanin, Giovanni; Rivaud-Péchoux, Sophie; Moigneu, Carine; Camuzat, Agnès; Da Barroca, Sandra; Mundwiller, Emeline; Couarch, Philippe; Salachas, François; Hannequin, Didier; Meininger, Vincent; Pasquier, Florence; Seilhean, Danielle; Couratier, Philippe; Danel-Brunaud, Véronique; Bonnet, Anne-Marie; Tranchant, Christine; LeGuern, Eric; Brice, Alexis; Le Ber, Isabelle; Kabashi, Edor

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

REEP2与膜结合丧失会导致遗传性痉挛性截瘫

Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, José L; Boutry, Maxime; Gonzalez, Michael A; Gauthier, Julie; El-Hachimi, Khalid H; Depienne, Christel; Muriel, Marie-Paule; Acosta Lebrigio, Rafael F; Gaussen, Marion; Noreau, Anne; Speziani, Fiorella; Dionne-Laporte, Alexandre; Deleuze, Jean-François; Dion, Patrick; Coutinho, Paula; Rouleau, Guy A; Zuchner, Stephan; Brice, Alexis; Stevanin, Giovanni; Darios, Frédéric

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

葡萄糖脑苷脂酶 GBA2 功能丧失是遗传性痉挛性截瘫中运动神经元缺陷的原因。

Martin, Elodie; Schüle, Rebecca; Smets, Katrien; Rastetter, Agnès; Boukhris, Amir; Loureiro, José L; Gonzalez, Michael A; Mundwiller, Emeline; Deconinck, Tine; Wessner, Marc; Jornea, Ludmila; Oteyza, Andrés Caballero; Durr, Alexandra; Martin, Jean-Jacques; Schöls, Ludger; Mhiri, Chokri; Lamari, Foudil; Züchner, Stephan; De Jonghe, Peter; Kabashi, Edor; Brice, Alexis; Stevanin, Giovanni

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

神经节苷脂生物合成的改变是导致复杂性遗传性痉挛性截瘫的原因

Boukhris, Amir; Schule, Rebecca; Loureiro, José L; Lourenço, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andrés; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frédéric; Rouleau, Guy A; Marques, Wilson Jr; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

采用全球方法剖析PLA2G6基因突变的整个表型,取得了新的发现

Salih, Mustafa A; Mundwiller, Emeline; Khan, Arif O; AlDrees, Abdulmajeed; Elmalik, Salah A; Hassan, Hamdy H; Al-Owain, Mohammed; Alkhalidi, Hisham M S; Katona, Istvan; Kabiraj, Mohammad M; Chrast, Roman; Kentab, Amal Y; Alzaidan, Hamad; Rodenburg, Richard J; Bosley, Thomas M; Weis, Joachim; Koenig, Michel; Stevanin, Giovanni; Azzedine, Hamid

Mutations in KCND3 cause spinocerebellar ataxia type 22.

KCND3 基因突变会导致 22 型脊髓小脑性共济失调

Lee Yi-Chung, Durr Alexandra, Majczenko Karen, Huang Yen-Hua, Liu Yu-Chao, Lien Cheng-Chang, Tsai Pei-Chien, Ichikawa Yaeko, Goto Jun, Monin Marie-Lorraine, Li Jun Z, Chung Ming-Yi, Mundwiller Emeline, Shakkottai Vikram, Liu Tze-Tze, Tesson Christelle, Lu Yi-Chun, Brice Alexis, Tsuji Shoji, Burmeister Margit, Stevanin Giovanni, Soong Bing-Wen

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

KIF1A错义突变导致SPG30(一种常染色体隐性遗传性痉挛性截瘫):根据突变性质的不同,表型也各不相同

Klebe, Stephan; Lossos, Alexander; Azzedine, Hamid; Mundwiller, Emeline; Sheffer, Ruth; Gaussen, Marion; Marelli, Cecilia; Nawara, Magdalena; Carpentier, Wassila; Meyer, Vincent; Rastetter, Agnès; Martin, Elodie; Bouteiller, Delphine; Orlando, Laurent; Gyapay, Gabor; El-Hachimi, Khalid H; Zimmerman, Batel; Gamliel, Moriya; Misk, Adel; Lerer, Israela; Brice, Alexis; Durr, Alexandra; Stevanin, Giovanni

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

一项全基因组DNA修复RNAi筛选鉴定出SPG48是与遗传性痉挛性截瘫相关的新基因

Słabicki, Mikołaj; Theis, Mirko; Krastev, Dragomir B; Samsonov, Sergey; Mundwiller, Emeline; Junqueira, Magno; Paszkowski-Rogacz, Maciej; Teyra, Joan; Heninger, Anne-Kristin; Poser, Ina; Prieur, Fabienne; Truchetto, Jérémy; Confavreux, Christian; Marelli, Cécilia; Durr, Alexandra; Camdessanche, Jean Philippe; Brice, Alexis; Shevchenko, Andrej; Pisabarro, M Teresa; Stevanin, Giovanni; Buchholz, Frank