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

Identification of novel human microcephaly-linked protein Mtss2 that mediates cortical progenitor cell division and corticogenesis through Nedd9-RhoA.

鉴定出一种与人类小头畸形相关的新型蛋白质 Mtss2,该蛋白质通过 Nedd9-RhoA 介导皮质祖细胞分裂和皮质发生

Carabalona Aurelie, Kallo Henna, Gonzalez Maryanne, Andriichuk Liliia, Elomaa Ellinoora, Molinari Florence, Fragkou Christiana, Lappalainen Pekka, Wessels Marja W, Saarikangas Juha, Rivera Claudio

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

PCDHGC4基因的双等位基因变异会导致一种新型神经发育综合征,其特征为进行性小头畸形、癫痫发作和关节异常。

Iqbal, Maria; Maroofian, Reza; Çavdarlı, Büşranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gökhan

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

KCNQ2相关癫痫性脑病的基因敲入小鼠模型表现出自发性全身性癫痫发作和认知障碍。

Milh, Mathieu; Roubertoux, Pierre; Biba, Najoua; Chavany, Julie; Spiga Ghata, Adeline; Fulachier, Camille; Collins, Stephan Christopher; Wagner, Christel; Roux, Jean-Christophe; Yalcin, Binnaz; Félix, Marie-Solenne; Molinari, Florence; Lenck-Santini, Pierre-Pascal; Villard, Laurent

Novel carbon film induces precocious calcium oscillation to promote neuronal cell maturation

新型碳膜诱导钙振荡早期发生,从而促进神经元细胞成熟

Ludwig, Anastasia; Kesaf, Sebnem; Heikkinen, Joonas J; Sukhanova, Tatiana; Khakipoor, Shokoufeh; Molinari, Florence; Pellegrino, Christophe; Kim, Sung I; Han, Jeon G; Huttunen, Henri J; Lauri, Sari E; Franssila, Sami; Jokinen, Ville; Rivera, Claudio

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

关于SLC25A22相关疾病组中另外三名患者及基因型-表型相关性的报告

Lemattre, Camille; Imbert-Bouteille, Marion; Gatinois, Vincent; Benit, Paule; Sanchez, Elodie; Guignard, Thomas; Tran Mau-Them, Frédéric; Haquet, Emmanuelle; Rivier, François; Carme, Emilie; Roubertie, Agathe; Boland, Anne; Lechner, Doris; Meyer, Vincent; Thevenon, Julien; Duffourd, Yannis; Rivière, Jean-Baptiste; Deleuze, Jean-François; Wells, Constance; Molinari, Florence; Rustin, Pierre; Blanchet, Patricia; Geneviève, David

Quantification of carious pathogens in the interdental microbiota of young caries-free adults

无龋齿年轻成人牙间微生物群中龋病致病菌的量化

Denis Bourgeois, Alexandra David, Camille Inquimbert, Paul Tramini, Nicolas Molinari, Florence Carrouel

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

编码双加氧酶的FTO基因功能丧失突变会导致严重的生长迟缓和多种畸形。

Boissel, Sarah; Reish, Orit; Proulx, Karine; Kawagoe-Takaki, Hiroko; Sedgwick, Barbara; Yeo, Giles S H; Meyre, David; Golzio, Christelle; Molinari, Florence; Kadhom, Noman; Etchevers, Heather C; Saudek, Vladimir; Farooqi, I Sadaf; Froguel, Philippe; Lindahl, Tomas; O'Rahilly, Stephen; Munnich, Arnold; Colleaux, Laurence

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

连锁分析和微阵列表达分析相结合,确定NF-κB信号通路缺陷是常染色体隐性遗传性智力低下的原因。

Philippe, Orianne; Rio, Marlène; Carioux, Astrid; Plaza, Jean-Marc; Guigue, Philippe; Molinari, Florence; Boddaert, Nathalie; Bole-Feysot, Christine; Nitschke, Patrick; Smahi, Asma; Munnich, Arnold; Colleaux, Laurence

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

非综合征型智力低下中的寡糖基转移酶亚基突变

Molinari, Florence; Foulquier, François; Tarpey, Patrick S; Morelle, Willy; Boissel, Sarah; Teague, Jon; Edkins, Sarah; Futreal, P Andrew; Stratton, Michael R; Turner, Gillian; Matthijs, Gert; Gecz, Jozef; Munnich, Arnold; Colleaux, Laurence

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

常染色体隐性新生儿肌阵挛性癫痫中线粒体谷氨酸转运受损

Molinari, Florence; Raas-Rothschild, Annick; Rio, Marlene; Fiermonte, Giuseppe; Encha-Razavi, Ferechte; Palmieri, Luigi; Palmieri, Ferdinando; Ben-Neriah, Ziva; Kadhom, Noman; Vekemans, Michel; Attie-Bitach, Tania; Munnich, Arnold; Rustin, Pierre; Colleaux, Laurence