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

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study

深部脑刺激治疗VPS16相关肌张力障碍:一项多中心研究

Svorenova, Tatiana; Romito, Luigi M; Kaymak, Ahmet; Mulroy, Eoin; Cif, Laura; Moro, Elena; Zeuner, Kirsten E; Zittel, Simone; Petry-Schmelzer, Jan Niklas; Gruber, Doreen; Centen, Liesanne; Albanese, Alberto; Ostrozovicova, Miriama; Han, Vladimir; Magocova, Veronika; Knorovsky, Kamil; Kollova, Aurelia; Garavaglia, Barbara; Golfrè-Andreasi, Nico; Reale, Chiara; Mazzoni, Alberto; Zorzi, Giovanna; Eleopra, Roberto; Levi, Vincenzo; Foltynie, Thomas; Limousin, Patricia; Akram, Harith; Zrinzo, Ludvic; Magrinelli, Francesca; Murphy, David; Houlden, Henry; Kurian, Manju A; Baiata, Claudio; Paschen, Steffen; Lohmann, Katja; Volkmann, Jens; Hamel, Wolfgang; Barbe, Michael T; van Egmond, Martje E; Tijssen, Maj; Ambro, Lubos; Jurkova, Veronika; Jech, Robert; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael; Skorvanek, Matej

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

BORCS5 中的致病变异会导致一系列神经发育障碍和神经退行性疾病,并伴有溶酶体功能障碍

Mencacci Niccolò E, Minakaki Georgia, Maroofian Reza, De Pace Raffaella, Paimboeuf Adeline, Shannon Patrick, Chitayat David, Magrinelli Francesca, Peng Wesley J, Chatterjee Diptaman, Eldessouky Sara H, Baptista Julia, Marton Tamas, Vogt Julie, Ortigoza-Escobar Juan Dario, Martorell Loreto, Gómez-Chiari Marta, Wentzensen Ingrid M, Kamsteeg Erik-Jan, Zaki Maha S, Scardamaglia Annarita, Zifarelli Giovanni, Al-Hassnan Zuhair Nasser, Miller Elka, Shinar Shiri, Matsa Lova S, Appikonda Sri Hari Chandan, Schwake Michael, Severino Mariasavina, Houlden Henry, Patten Shunmoogum A, Bonifacino Juan S, Bhatia Kailash P, Krainc Dimitri

A fluorescent perilipin 2 knock-in mouse model reveals a high abundance of lipid droplets in the developing and adult brain

利用荧光标记的perilipin 2基因敲入小鼠模型揭示了发育中和成年大脑中脂滴的大量存在。

Sofia Madsen ,Ana C Delgado ,Christelle Cadilhac ,Vanille Maillard ,Fabrice Battiston ,Carla Marie Igelbüscher ,Simon De Neck ,Elia Magrinelli ,Denis Jabaudon ,Ludovic Telley ,Fiona Doetsch ,Marlen Knobloch

A fluorescent perilipin 2 knock-in mouse model reveals a high abundance of lipid droplets in the developing and adult brain

利用荧光标记的perilipin 2基因敲入小鼠模型揭示了发育中和成年大脑中脂滴的大量存在。

Sofia Madsen,Ana C Delgado,Christelle Cadilhac,Vanille Maillard,Fabrice Battiston,Carla Marie Igelbüscher,Simon De Neck,Elia Magrinelli,Denis Jabaudon,Ludovic Telley,Fiona Doetsch,Marlen Knobloch

Genotype-phenotype correlation in PRKN-associated Parkinson's disease

PRKN相关帕金森病中的基因型-表型相关性

Menon, Poornima Jayadev; Sambin, Sara; Criniere-Boizet, Baptiste; Courtin, Thomas; Tesson, Christelle; Casse, Fanny; Ferrien, Melanie; Mariani, Louise-Laure; Carvalho, Stephanie; Lejeune, Francois-Xavier; Rebbah, Sana; Martet, Gaspard; Houot, Marion; Lanore, Aymeric; Mangone, Graziella; Roze, Emmanuel; Vidailhet, Marie; Aasly, Jan; Gan Or, Ziv; Yu, Eric; Dauvilliers, Yves; Zimprich, Alexander; Tomantschger, Volker; Pirker, Walter; Álvarez, Ignacio; Pastor, Pau; Di Fonzo, Alessio; Bhatia, Kailash P; Magrinelli, Francesca; Houlden, Henry; Real, Raquel; Quattrone, Andrea; Limousin, Patricia; Korlipara, Prasad; Foltynie, Thomas; Grosset, Donald; Williams, Nigel; Narendra, Derek; Lin, Hsin-Pin; Jovanovic, Carna; Svetel, Marina; Lynch, Timothy; Gallagher, Amy; Vandenberghe, Wim; Gasser, Thomas; Brockmann, Kathrin; Morris, Huw R; Borsche, Max; Klein, Christine; Corti, Olga; Brice, Alexis; Lesage, Suzanne; Corvol, Jean Christophe

PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways

PSMF1 变异体通过破坏线粒体通路,导致从早发性帕金森病到围产期死亡的一系列表型

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemi Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja Nirujogi, Mariasavina Severino

Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

儿童期发病的TUBB4A相关脑白质营养不良的粗大运动功能:GMFM-88的性能及GMFC-MLD在TUBB4A中的验证

Gavazzi, Francesco; Patel, Virali; Charsar, Brittany; Glanzman, Allan; Erler, Jacqueline; Sevagamoorthy, Anjana; McKenzie, Emma; Kornafel, Tracy; Ballance, Elizabeth; Pierce, Samuel R; Teng, Michelle; Formanowski, Brielle; Woidill, Sarah; Shults, Justine; Wassmer, Evangeline; Tonduti, Davide; Magrinelli, Francesca; Bernard, Geneviève; Van Der Knaap, Marjo; Wolf, Nicole; Adang, Laura; Vanderver, Adeline

Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism

抑制 Trpv4 可挽救自闭症 Shank3 小鼠模型中急性炎症反应所揭示的回路和社交缺陷

Stamatina Tzanoulinou #, Stefano Musardo #, Alessandro Contestabile #, Sebastiano Bariselli, Giulia Casarotto, Elia Magrinelli, Yong-Hui Jiang, Denis Jabaudon, Camilla Bellone

Pum2 and TDP-43 refine area-specific cytoarchitecture post-mitotically and modulate translation of Sox5, Bcl11b, and Rorb mRNAs in developing mouse neocortex

Pum2 和 TDP-43 在有丝分裂后精细化特定区域的细胞结构,并调节发育中小鼠新皮层中 Sox5、Bcl11b 和 Rorb mRNA 的翻译。

Kawssar Harb ,Melanie Richter # ,Nagammal Neelagandan # ,Elia Magrinelli ,Hend Harfoush ,Katrin Kuechler ,Melad Henis ,Irm Hermanns-Borgmeyer ,Froylan Calderon de Anda ,Kent Duncan