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

Multiple Mononeuropathy Secondary to Parvovirus B19 Infection: A Case Series

细小病毒B19感染继发的多发性单神经病:病例系列

Theuriet, Julian; Michaud, Maud; Fargeot, Guillaume; Labeyrie, Céline; Grosset, Anaïs; Bucy, Maude; Kouton, Ludivine; Hubben, Florian; Manel, Véronique; Cluse, Florent; Bohic, Adrien; Rodriguez, Nicolas; Petiot, Philippe; Billaud, Geneviève; Fabry, Vincent; Cintas, Pascal; Maisonobe, Thierry; Viala, Karine; Debs, Rabab; Psimaras, Dimitri; Leonard-Louis, Sarah; Terrier, Benjamin; Dorobat, Alina; Tard, Céline; Darteyre, Stéphane; Vicino, Alex; Théaudin, Marie; Adam, Clovis; Bouhour, Françoise; Lenglet, Timothée; Destras, Grégory; Streichenberger, Nathalie; Pegat, Antoine

Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy

SEPTIN9相关遗传性神经痛性肌萎缩的临床特征和预后

Theuriet, Julian; Quadrio, Isabelle; Fer, Frédéric; Monin, Pauline; Bohic, Adrien; Gravier-Dumonceau, Alice; Poinsignon, Vianney; Delmont, Emilien; Salort-Campana, Emmanuelle; Attarian, Shahram; Nollet, Sylvain; Petiot, Philippe; Ronsin, Solène; Peysson, Stéphane; Lozeron, Pierre; Bouhour, Françoise; Corcia, Philippe; Pegat, Antoine; Stojkovic, Tanya

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein

一种与编码线粒体Ugo1样蛋白的SLC25A46基因双等位基因变异相关的孤立性视神经病变

Reynier, Pascal; Amati-Bonneau, Patrizia; Desquiret-Dumas, Valérie; Ferré, Marc; Gueguen, Naïg; Plouzennec, Solenn; Michel, Mathieu; Chevrollier, Arnaud; Pegat, Antoine; Orssaud, Christophe

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

MYH7相关肌病:法国多中心队列研究中的临床、肌病理学和基因型谱

Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Françoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Féasson, Léonard; Jacquin-Piques, Agnès; Richard, Pascale; Métay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforêt, Pascal; Acket, Blandine; Behin, Anthony; Fernández-Eulate, Gorka; Léonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocío Nur

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

SMCHD1基因变异与2型面肩肱型肌营养不良症及其致病性和疾病外显率预测的挑战

Gérard, Laurène; Delourme, Mégane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonnière, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; De La Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Mélanie; Hadouiri, Nawale; Kouton, Ludivine; Laforêt, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Véronique; Nectoux, Juliette; Pegat, Antoine; Sole, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Svahn, Juliette; Tard, Celine; Thauvin, Christel; Verebi, Camille; Salort Campana, Emmanuelle; Attarian, Shahram; Nguyen, Karine; Badache, Ali; Bernard, Rafaëlle; Magdinier, Frédérique

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

IgG4-Related Disease Associated With Myotonic Dystrophy Type 2

与2型强直性肌营养不良相关的IgG4相关疾病

Pegat, Antoine; Svahn, Juliette; Gerfaud-Valentin, Mathieu; Durel, Cecile-Audrey; Durupt, Stéphane; Bernard, Emilien

Electrophysiological Abnormalities in Finger Extension Weakness and DOwnbeat Nystagmus Motor Neuron Disease: Three New Patients and Review of the Literature

手指伸展无力和下跳性眼球震颤运动神经元病的电生理异常:三例新病例及文献回顾

Theuriet, Julian; Bernard, Emilien; Guy, Nathalie; Taithe, Frédéric; Even, Cécilia; Maisonobe, Thierry; Sangaré, Aude; Lardeux, Pierre; Tilikete, Caroline Froment; Couratier, Philippe; Lenglet, Timothée; Pegat, Antoine

Diagnostic and prognostic biomarkers in immune checkpoint inhibitor-related encephalitis: a retrospective cohort study

免疫检查点抑制剂相关性脑炎的诊断和预后生物标志物:一项回顾性队列研究

Farina, Antonio; Villagrán-García, Macarena; Fourier, Anthony; Pinto, Anne-Laurie; Chorfa, Fatima; Timestit, Noémie; Alberto, Tifanie; Aupy, Jérôme; Benaiteau, Marie; Birzu, Cristina; Campetella, Lucia; Cotton, François; Dalle, Stéphane; Delaruelle, Clara Fontaine; Dumez, Pauline; Germi, Rafaele; Le Maréchal, Marion; Maillet, Denis; Marignier, Romain; Pegat, Antoine; Psimaras, Dimitri; Rafiq, Marie; Picard, Géraldine; Desestret, Virginie; Quadrio, Isabelle; Honnorat, Jérôme; Joubert, Bastien

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

成人先天性重症肌无力综合征:临床特征、诊断和长期预后

Theuriet, Julian; Masingue, Marion; Behin, Anthony; Ferreiro, Ana; Bassez, Guillaume; Jaubert, Pauline; Tarabay, Oriana; Fer, Frédéric; Pegat, Antoine; Bouhour, Françoise; Svahn, Juliette; Petiot, Philippe; Jomir, Laurentiu; Chauplannaz, Guy; Cornut-Chauvinc, Catherine; Manel, Véronique; Salort-Campana, Emmanuelle; Attarian, Shahram; Fortanier, Etienne; Verschueren, Annie; Kouton, Ludivine; Camdessanché, Jean-Philippe; Tard, Céline; Magot, Armelle; Péréon, Yann; Noury, Jean-Baptiste; Minot-Myhie, Marie-Christine; Perie, Maud; Taithe, Frederic; Farhat, Yacine; Millet, Anne-Laure; Cintas, Pascal; Solé, Guilhem; Spinazzi, Marco; Esselin, Florence; Renard, Dimitri; Sacconi, Sabrina; Ezaru, Andra; Malfatti, Edoardo; Mallaret, Martial; Magy, Laurent; Diab, Eva; Merle, Philippe; Michaud, Maud; Fournier, Maxime; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Lefeuvre, Claire; Laforet, Pascal; Richard, Pascale; Sternberg, Damien; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Eymard, Bruno