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

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.

纯合子 COQ9 突变:一种可能可治疗的遗传性痉挛性截瘫的新病因

Fontaine Fanny, Labalme Audrey, Laurencin Chloé, Theuriet Julian, Jacquier Arnaud, Lacoste Nicolas, Streichenberger Nathalie, Lesca Gaëtan, Allouche Stéphane

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

Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients

两例患者以脱髓鞘性神经病变作为家族性E200K克雅氏病的首发表现

Delorme, Cécile; Pégat, Antoine; Theuriet, Julian; Brandel, Jean-Philippe; Roze, Emmanuel; Viala, Karine; Zyss, Julie; Thobois, Stéphane; Fourier, Anthony; Bernard, Emilien; Svahn, Juliette; Laurencin, Chloé; Jaulent, Paul; Vandendries, Christophe; Quadrio, Isabelle; Desestret, Virginie; Meyronet, David; Maisonobe, Thierry; Haïk, Stéphane; Seilhean, Danielle

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

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

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

法国人群中非5q近端脊髓性肌萎缩症的基因特征分析:全外显子组测序的作用

Theuriet, Julian; Fernandez-Eulate, Gorka; Latour, Philippe; Stojkovic, Tanya; Masingue, Marion; Vidoni, Léo; Bernard, Emilien; Jacquier, Arnaud; Schaeffer, Laurent; Salort-Campana, Emmanuelle; Chanson, Jean-Baptiste; Pakleza, Aleksandra Nadaj; Kaminsky, Anne-Laure; Svahn, Juliette; Manel, Véronique; Bouhour, Françoise; Pegat, Antoine

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family

一种此前未报道过的NARS1变异导致法国一个家族出现显性远端遗传性运动神经病。

Theuriet, Julian; Marte, Sheila; Isapof, Arnaud; de Becdelièvre, Alix; Konyukh, Marina; Laureano-Figueroa, Stephanie M; Latour, Philippe; Quadrio, Isabelle; Maisonobe, Thierry; Antonellis, Anthony; Stojkovic, Tanya

Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report

急性间歇性卟啉症伴神经痛性肌萎缩:病例报告

Theuriet, Julian; Gerfaud-Valentin, Mathieu; Durel, Cécile-Audrey; Gouya, Laurent; Pegat, Antoine