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

Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias

脊髓小脑性共济失调患者小脑认知情感综合征的患病率、严重程度和进展

Petit, Emilien; López Domínguez, Daniel; Marelli, Cecilia; Sayah, Sabrina; Pulst, Stefan M; Faber, Jennifer; Oz, Gulin; Paulson, Henry L; Ashizawa, Tetsuo; Tezenas du Montcel, Sophie; Durr, Alexandra; Coarelli, Giulia

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder

在国际队列中,造血干细胞移植治疗集落刺激因子-1受体(CSF1R)相关疾病

Yska, Hemmo A F; Golse, Marianne; Beerepoot, Shanice; Hayer, Stefanie; Bergner, Caroline; de Paiva, Anderson Rodrigues Brandao; Marelli, Cecilia; Palacios, Natalia Julia; Osorio, Yudy Llamas; Huiban, Camille; Franke, Georg; Wortmann, Friederike; Holtick, Udo; Ayrignac, Xavier; van der Knaap, Marjo S; Schöls, Ludger; Perlbarg, Vincent; Galanaud, Damien; de Witte, Moniek A; Wolf, Nicole I; Nguyen, Stéphanie; Mochel, Fanny

Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.

脑脊液中的可溶性 SorLA 是一种新型生物标志物,可用于探索阿尔茨海默病中 SorLA 蛋白运输的紊乱

Castelot Romain, Zarea Aline, Wallon David, Rovelet-Lecrux Anne, Schramm Catherine, Quillard-Muraine Muriel, Beaume Anne, Blanc Frédéric, Bousiges Olivier, Dumurgier Julien, Formaglio Maïté, Leguyader Gwenael, Lehmann Sylvain, Marelli Cecilia, Martinet Matthieu, Nogueira Leonor, Pariente Jérémie, Quadrio Isabelle, Rollin-Sillaire Adeline, Schraen Susanna, Nicolas Gaël, Lecourtois Magalie

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics

GAA-FGF14 迟发性小脑共济失调 (SCA27B) 的神经病变:患病率和特征

Theuriet, Julian; Paulet, Lukas; Acket, Blandine; Ory-Magne, Fabienne; Belbachir, Hocine; Chanson, Jean-Baptiste; Bouhour, Françoise; Laurencin, Chloé; Froment Tilikete, Caroline; Lardeux, Pierre; Clement, Guillemette; Hocquel, Armand; Renaud, Mathilde; Bonnet, Céline; Marelli, Cecilia; Weber, Sacha; Comet, Camille; Azulay, Jean-Philippe; Fluchère, Frédérique; Coarelli, Giulia; Heinzmann, Anna; Ewenczyk, Claire; Verny, Christophe; Guillet-Pichon, Virginie; Guyant-Marechal, Lucie; Desjardins, Clément; Riou, Audrey; Degos, Bertrand; Mercier, Sandra; Goizet, Cyril; Degoutin, Manon; Angelini, Chloé; Laurens, Brice; Degardin, Adrian; Carrière, Nicolas; Le Guyader, Gwenaël; Schneider, Vincent; Dupont, Gwendoline; Thomas, Quentin; Merindol, Maxime; Besse-Pinot, Elsa; Méneret, Aurélie; Roze, Emmanuel; Durr, Alexandra; Thobois, Stéphane; Anheim, Mathieu; Wirth, Thomas; Pegat, Antoine

Clinical application and reporting of neurofilament quantification in neuropsychiatric disorders: an international overview

神经丝定量在神经精神疾病中的临床应用和报告:国际综述

Grillet, Pierre-Edouard; Marelli, Cecilia; Mondésert, Etienne; Francois-Heude, Marie-Céline; Roubertie, Agathe; Sabourdy, Frédérique; Cristol, Jean-Paul; Acquaviva, Cécile; Badiou, Stéphanie; Delaby, Constance; Ladang, Aurélie; Yriarte, Jose; Zecca, Chiara; Logroscino, Giancarlo; Koertvelyessy, Peter; Tumani, Hayrettin; Parchi, Piero; Quadrio, Isabelle; Hart, Melanie; Olsen, Dorte Aalund; Alcolea, Daniel; Blennow, Kaj; Fortea, Juan; Lleó, Alberto; Algeciras‐Schimnich, Alicia; Ayrignac, Xavier; Bedel, Aurélie; Santos, Gustavo A A; Borelli, Wyllians Vendramini; Amar, Elodie Bouaziz; Baldeiras, Inês; Bigot‐Corbel, Edith; Bjerke, Maria; Perez, Mercedes Carretero; Casoli, Tiziana; Chabrashvili, Tinatin; Chapman, Miles D; Cusato, Jessica; Dursun, Erdinc; Fourier, Anthony; Galimberti, Daniela; Gezen‐Ak, Duygu; Gordon, Brian A; Gouju, Julien; de las Heras Florez, Silvia; Sánchez, Juan José Hernández; Herwerth, Marina; Imperiale, Daniela; Kaczorowski, Flora; Kasuga, Kensaku; Keshavan, Ashvini; Khalil, Michael; Kuhle, Jens; Leithner, Christoph; Lewczuk, Piotr; Letournel, Franck; Tsolaki, Magda; Giuffrè, Guido Maria; Blanc, Marie‐Céline; Mroszko, Barbara; Rodríguez‐Álvarez, Jose; Musso, Giulia; Kulczynska‐Przybik, Agnieszka; Nogueira, Léonor; Paquet, Claire; Baiardi, Simone; Gaetani, Lorenzo; Parnetti, Lucilla; Garay, Raquel Perez; Poesen, Koen; Quillard‐Muraine, Muriel; Borja, Enrique Rodriguez; Schraen‐Maschke, Susanna; Terracciano, Daniela; Bachhuber, Franziska; Halbgebauer, Steffen; Tzartos, Socrates; Tzartos, John; Unterwalder, Nadine; Vermunt, Lisa; Wellington, Cheryl L; Zetterberg, Henrik; Teunissen, Charlotte E; Lehmann, Sylvain

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

非扩张型脊髓小脑性共济失调的表型异质性极高

Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

婴儿期帕金森症、运动障碍和发育迟缓:不要忘记多聚谷氨酰胺缺陷!

Baide-Mairena, Heidy; Coget, Arthur; Leboucq, Nicolas; Procaccio, Vincent; Blanluet, Maud; Meyer, Pierre; Malinge, Marie-Claire; François-Heude, Marie-Céline; Moreno, Mathis; Geneviève, David; Marelli, Cecilia; Roubertie, Agathe

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia

23例cblA型甲基丙二酸血症患者的长期预后

Marelli, Cecilia; Fouilhoux, Alain; Benoist, Jean-Francois; De Lonlay, Pascale; Guffon-Fouilhoux, Nathalie; Brassier, Anais; Cano, Aline; Chabrol, Brigitte; Pennisi, Alessandra; Schiff, Manuel; Acquaviva, Cecile; Murphy, Elaine; Servais, Aude; Lachmann, Robin

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

三国鸟氨酸转氨甲酰酶缺乏症概况

Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; Canda, Ebru; Cano, Aline; Chronopoulou, Efstathia; Connolly, Grainne M; Damaj, Lena; Dawson, Charlotte; Dobbelaere, Dries; Douillard, Claire; Eminoglu, Fatma Tuba; Erdol, Sahin; Ersoy, Melike; Fang, Sherry; Feillet, François; Gokcay, Gulden; Goksoy, Emine; Gorce, Magali; Inci, Asli; Kadioglu, Banu; Kardas, Fatih; Kasapkara, Cigdem Seher; Kilic Yildirim, Gonca; Kor, Deniz; Kose, Melis; Marelli, Cecilia; Mundy, Helen; O'Sullivan, Siobhan; Ozturk Hismi, Burcu; Ramachandran, Radha; Roubertie, Agathe; Sanlilar, Mehtap; Schiff, Manuel; Sreekantam, Srividya; Stepien, Karolina M; Uzun Unal, Ozlem; Yildiz, Yilmaz; Zubarioglu, Tanyel; Gissen, Paul