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

Serum Neurofilament Light Chain Correlates With Clinical Severity and Predicts Mortality in Anti-IgLON5 Disease

血清神经丝轻链与抗IgLON5疾病的临床严重程度相关,并可预测死亡率。

Farina, Antonio; Villagrán-García, Macarena; Abichou-Klich, Amna; Benaiteau, Marie; Bernard, Emilien; Bouhour, Françoise; Desestret, Virginie; Joubert, Bastien; Picard, Geraldine; Pinto, Anne-Laurie; Pons, Lea; Smolik, Krzysztof; Thobois, Stephane; Trouillet-Assant, Sophie; Honnorat, Jerome

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

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study

X连锁夏科-马里-图斯病表型-基因型相关性:一项法国队列研究

Barbat du Closel, Luce; Bonello-Palot, Nathalie; Delmont, Emilien; Péréon, Yann; Echaniz-Laguna, Andoni; Camdessanché, Jean Philippe; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Frachet, Simon; Magy, Laurent; Cassereau, Julien; Cintas, Pascal; Choumert, Ariane; Devic, Perrine; Louis, Sarah Léonard; Tard, Céline; Solé, Guilhem; Salort-Campana, Emmanuelle; Bouhour, Françoise; Latour, Philippe; Stojkovic, Tanya; Attarian, Shahram

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

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)

罕见神经肌肉疾病患者的诊断困境和迷茫:来自法国国家罕见神经肌肉疾病网络(FILNEMUS)和法国国家罕见病数据库(BNDMR)的患者特征见解

Dumas, Rémy; Jannot, Anne-Sophie; Elarouci, Nabila; Salort-Campana, Emmanuelle; Pisella, Lucie; Tard, Céline; Sacconi, Sabrina; Bouhour, Françoise; Sarrazin, Elisabeth; Spinazzi, Marco; Laforet, Pascal; Pereon, Yann; Nadaj-Pakleza, Aleksandra; Echaniz-Laguna, Andoni; Choumert, Ariane; Magy, Laurent; Feasson, Léonard; Esselin, Florence; Cances, Claude; Espile, Caroline; Desguerre, Isabelle; Rouzier, Cécile; Cintas, Pascal; Stojkovic, Tanya; Solé, Guilhem; Attarian, Shahram

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study

法国庞贝病登记处回顾性研究:成年晚发型庞贝病患者的死亡原因和合并症

Chitimus, Diana Maria; Tard, Céline; Fournier, Maxime; Bouhour, Françoise; Béhin, Anthony; Salort-Campana, Emmanuelle; Lagrange, Emmeline; Kaminsky, Anne-Laure; Magot, Armelle; Beltran, Stéphane; Noury, Jean-Baptiste; Magy, Laurent; Solé, Guilhem; Renard, Dimitri; Spinazzi, Marco; Demurger, Florence; Cintas, Pascal; Nadaj-Pakleza, Aleksandra; Deibener-Kaminsky, Joelle; Bassez, Guillaume; Taouagh, Nadjib; Arrassi, Azzedine; Lefeuvre, Claire; Attarian, Sharam; Hamroun, Dalil; Laforêt, Pascal

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy

全国范围内对103例SH3TC2基因相关脱髓鞘性周围神经病患者进行表型和基因型特征分析

Jaubert, Pauline; Loret, Camille; Stojkovic, Tanya; Attarian, Shahram; Bonello-Palot, Nathalie; Bouhour, Françoise; Camdessanche, Jean-Philippe; Cassereau, Julien; Chanson, Jean-Baptiste; Cintas, Pascal; Creange, Alain; Esselin, Florence; Genestet, Steeve; Giordano, Sophie; Gitiaux, Cyril; Guillaud-Bataille, Marine; Isapof, Arnaud; Kumaran, Deiva; Labeyrie, Céline; Laugel, Vincent; Leonard-Louis, Sarah; Lozeron, Pierre; Magy, Laurent; Mercier, Sandra; Merle, Philippe; Michaud, Maud; Nicolas, Guillaume; Ollagnon, Elisabeth; Pereon, Yann; Puma, Angela; Poinsignon, Vianney; Roy, Susana Quijano; Sole, Guilhem; Tard, Céline; Vidoni, Léo; Lia, Anne-Sophie; Echaniz-Laguna, Andoni

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry

FSHD1患者罕见特征的患病率和预测因素:来自法国FSHD注册研究的启示

Sanson, Benoît; Slioui, Abderhmane; Garcia, Jérémy; Klouvi, Lori; Lejeune, Julie; Stalens, Caroline; Guien, Céline; Rabarimeriarijaona, Sitraka; Bernard, Rafaëlle; Nectoux, Juliette; Attarian, Sharham; Bédat-Millet, Anne-Laure; Bouhour, Françoise; Boyer, François Constant; Chanson, Jean-Baptiste; Choumert, Ariane; Cintas, Pascal; De La Cruz, Elisa; Féasson, Léonard; Fournier, Maxime; Ghorab, Karima; Jacquin-Piques, Agnès; Laforêt, Pascal; Magot, Armelle; Michaud, Maud; Noury, Jean-Baptiste; Solé, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Tard, Céline; Villa, Luisa; Béroud, Christophe; Sacconi, Sabrina