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

Rare Movement Disorders-An Approach for Clinicians

罕见运动障碍——临床医生的诊疗方法

Jesuthasan, Aaron; Magrinelli, Francesca; Batla, Amit; Bhatia, Kailash P

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

NDUFA9 双等位基因变异会导致进行性神经发育障碍,其主要特征是肌张力障碍和线粒体复合物 I 缺乏。

Magrinelli, Francesca; Taylor, Lucie S; Sedighzadeh, Sahar; Moualek, Dalila; Severino, Mariasavina; Grba, Daniel N; Alston, Charlotte L; Champion, Michael; Tavasoli, Ali Reza; Lascelles, Karine; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Fateh, Sahand Tehrani; Kordi-Tamandani, Mohammad; Khajeh, Ali; Yaghoubi, Saeedeh; Dominik, Natalia; Babaei, Meisam; Javadzadeh, Mohsen; Varaghchi, Jamileh Rezazadeh; Miryounesi, Mohammad; Ghayoor Karimiani, Ehsan; Tazir, Meriem; Ali Pacha, Lamia; Bhatia, Kailash P; Taylor, Robert W; Houlden, Henry; Maroofian, Reza

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

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

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

罕见病中的移动元件插入:60,000个外显子组样本的比较基准和重新分析

Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E L M; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; Te Paske, Iris B A W; de Voer, Richarda M; Faivre, Laurence; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Töpf, Ana; van der Kooi, Anneke J; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

更正:罕见病中的移动元件插入:60,000个外显子组样本的比较基准和重新分析

Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E L M; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; Te Paske, Iris B A W; de Voer, Richarda M; Faivre, Laurence; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Töpf, Ana; van der Kooi, Anneke J; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian

Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies

病理性RFC1重复序列扩增不会导致炎症性神经病变的发生。

Nagy, Sara; Carr, Aisling; Mroczek, Magdalena; Rinaldi, Simon; Curro, Riccardo; Dominik, Natalia; Japzon, Nicole; Magrinelli, Francesca; Lunn, Michael P; Manji, Hadi; Reilly, Mary M; Cortese, Andrea; Houlden, Henry

Ethnic Differences in Atypical Parkinsonism-is South Asian PSP Different?

非典型帕金森病中的种族差异——南亚裔进行性核上性麻痹症患者有何不同?

Balint, Bettina; Neo, Shermyn; Magrinelli, Francesca; Mulroy, Eoin; Latorre, Anna; Stamelou, Maria; Morris, Huw R; Batla, Amit; Bhatia, Kailash P