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

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

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

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

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features

老年人FSHD表型变异:躯干前屈畸形的临床、遗传和影像学特征

Torchia, Eleonora; Vandeputte, Patrick; Monforte, Mauro; Gillet, Charlène; Verny, Christophe; Bernard, Rafaelle; Tasca, Giorgio; Spinazzi, Marco

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

Myotilin gene duplication causing late-onset myotilinopathy.

肌动蛋白基因重复导致迟发性肌动蛋白病

Spinazzi Marco, Savarese Marco, Letournel Franck, Sagath Lydia, Manero Florence, Guichet Agnès, Hoischen Alexander, Metay Corinne, Gouju Julien, Udd Bjarne

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

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

Correction: Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis

更正:PARL 缺乏引起的线粒体缺陷会导致精子发生停滞和铁死亡。

Radaelli, Enrico; Assenmacher, Charles-Antoine; Verrelle, Jillian; Banerjee, Esha; Manero, Florence; Khiati, Salim; Girona, Anais; Lopez-Lluch, Guillermo; Navas, Placido; Spinazzi, Marco

Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

在接受阿糖苷酶α治疗后病情恶化的晚发型庞贝病患者中,改用阿糖苷酶α治疗1年后的真实疗效:一项法国队列研究

Tard, Céline; Bouhour, Françoise; Michaud, Maud; Beltran, Stephane; Fournier, Maxime; Demurger, Florence; Lagrange, Emmeline; Nollet, Sylvain; Sacconi, Sabrina; Noury, Jean-Baptiste; Magot, Armelle; Cintas, Pascal; Renard, Dimitri; Deibener-Kaminsky, Joëlle; Lefeuvre, Claire; Davion, Jean-Baptiste; Salort-Campana, Emmanuelle; Arrassi, Azzeddine; Taouagh, Nadjib; Spinazzi, Marco; Attarian, Shahram; Laforêt, Pascal