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Pascal Laforêt

humboldt university of berlin

67H指数
547论文数
1.5W被引数
收录论文 146
发表时间
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294th ENMC international workshop: Diagnosis and management of paraproteinemic myopathies focusing on sporadic late-onset nemaline myopathy (SLONM) and light-chain (AL) amyloid myopathy. 27th-29th March 2026, Hoofddorp, The Netherlands第294届ENMC国际研讨会：聚焦于散发性迟发性nemaline肌病（SLONM）和轻链（AL）淀粉样变性肌病的副蛋白血症性肌病的诊断与管理。2026年3月27日至29日，荷兰霍夫多普。
errNeuromuscular Disorders
IF2.8
err2026-09-01
err0
PREAI
errLauletta, Antonio; Torchia, Eleonora; Schwarz, Jana Marie; Garibaldi, Matteo; Kleefeld, Felix; Laforet, Pascal; Liewluck, Teerin
err分享
err收藏
Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations妊娠期间管理庞贝病和酶替代疗法：挑战与考虑
errEuropean Journal of Neurology
IF3.9
err2026-06-25
err0
errOAAI
errMaudy T. M. Theunissen; Zohra Hayat; Françoise Bouhour; Johanna M. P. van den Hout; Jean-Baptiste Noury; Emmeline Lagrange; Aurélie Jouy; Nadjib Taouagh; Pieter A. van Doorn; Ans T. van der Ploeg; Pascal Laforêt; Nadine A. M. E. van der Beek
err分享
err收藏
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies破解密码： sarcoglycanopathies 中基因型-表型相关模型
errAnnals of Clinical and Translational Neurology
IF3.9
err2026-03-19
err0
errOAAI
errLeonela Luce; Goknur Selen Kocak; José Verdú-Díaz; Jorge Alonso-Pérez; Kristl G. Claeys; Tanya Stojkovic; Gorka Fernández-Eulate; Pascal Laforêt; Najoua Miladi; Filipe Di Pace; Cristiane Araujo Martins Moreno; Edmar Zanoteli; Conrad C. Weihl; Volker Straub; Ana Töpf; Jordi Díaz-Manera; Sarcoglycan European Cohort Consortium
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err收藏
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review揭示MYH2相关肌病：来自病例系列和系统综述的组织学-遗传学见解
errJournal of Neuromuscular Diseases
IF3.4
err2025-11-18
err0
errOAAI
errBeatrice Labella; Guy Brochier; Maud Beuvin; Emmanuelle Lacene; Anais Chanut; Angeline Madelaine; Clemence Labasse; Aurelie Méneret; Andreas Roos; Heike Kölbel; Adrian Levine; Grace Yoon; Juliette Svahn; Francoise Bouhour; Natalie Streichenberger; Aleksandra Nadaj-Pakleza; Edoardo Malfatti; Guillaume Bassez; Anthony Behin; Pascal Laforet; Rocio Nur Villar-Quiles; Sarah Leonard-Louis; Thierry Maisonobe; Tanya Stojkovic; Bruno Eymard; Norma Beatriz Romero; Alessandro Padovani; Massimiliano Filosto; Denise Cassandrini; Valerie Biancalana; John Rendu; Kiran Polavarapu; Corinne Métay; Teresinha Evangelista
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err收藏
Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment症状前晚发型庞贝病：优化治疗时机
errRevue Neurologique
IF2.3
err2025-11-12
err0
PREAI
errC. Guémy; C. Lefeuvre; E. Berling; A. Rouyer; G. Nicolas; P. Laforêt
err分享
err收藏
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database庞贝病患者接受Myozyme治疗时的医疗费用和护理路径：一项基于法国国家医疗数据库的观察性研究
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-01
err0
errOAAI
errAlicia Le Bras; Pascale De Lonlay; Shahram Attarian; Anaïs Brassier; Isabelle Durand-Zaleski; Pascal Laforêt
err分享
err收藏
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study成人迟发性庞贝病患者死亡原因及合并症：一项法国庞贝注册登记研究
errEuropean Journal of Neurology
IF3.9
err2025-10-27
err0
errOAAI
errDiana Maria Chitimus; Céline Tard; Maxime Fournier; Françoise Bouhour; Anthony Béhin; Emmanuelle Salort-Campana; Emmeline Lagrange; Anne-Laure Kaminsky; Armelle Magot; Stéphane Beltran; Jean-Baptiste Noury; Laurent Magy; Guilhem Solé; Dimitri Renard; Marco Spinazzi; Florence Demurger; Pascal Cintas; Aleksandra Nadaj-Pakleza; Joelle Deibener-Kaminsky; Guillaume Bassez; Nadjib Taouagh; Azzedine Arrassi; Claire Lefeuvre; Sharam Attarian; Dalil Hamroun; Pascal Laforêt; for French Pompe study group
err分享
err收藏
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与诊断延迟：来自法国罕见神经肌肉疾病国家网络（FILNEMUS）和法国国家罕见病数据库（BNDMR）的患者特征洞察
errEUROPEAN JOURNAL OF NEUROLOGY
IF3.9
err2025-09-01
err0
errOAAI
errDumas, Remy; Jannot, Anne-Sophie; Elarouci, Nabila; Salort-Campana, Emmanuelle; Pisella, Lucie; Tard, Celine; Sacconi, Sabrina; Bouhour, Francoise; Sarrazin, Elisabeth; Spinazzi, Marco; Laforet, Pascal; Pereon, Yann; Nadaj-Pakleza, Aleksandra; Echaniz-Laguna, Andoni; Choumert, Ariane; Magy, Laurent; Feasson, Leonard; Esselin, Florence; Cances, Claude; Espile, Caroline; Desguerre, Isabelle; Rouzier, Cecile; Cintas, Pascal; Stojkovic, Tanya; Sole, Guilhem; Attarian, Shahram; FILNEMUS Study Grp
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err收藏
Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure纯合子DNAJB4基因缺失揭示伴有急性呼吸衰竭的肌病
errRevue Neurologique
IF2.3
err2025-08-05
err0
PREAI
errD.M. Chitimus; C. Adam; C. Cauquil; B. Keren; N. Heming; S. Amthor; D. Annane; G. Nicolas; P. Laforêt; C. Métay; C. Lefeuvre
err分享
err收藏
Characterization and Related Factors of Postural Control in Adults With Late-Onset Pompe Disease: Cross-Sectional and Case Control Study晚期庞贝病成人姿势控制的特征及相关因素：横断面和病例对照研究
errPHYSICAL THERAPY
IF3.3
err2025-07-01
err0
PREAI
errMaulet, Theo; Cattagni, Thomas; Mahmoudi, Sofiane; Gandois, Thomas; Dubois, Fabien; Laforet, Pascal; Bonnyaud, Celine
err分享
err收藏
Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review常染色体显性遗传性远端肌营养不良症，由MATR3基因p.Ser85Cys突变引起：新病例系列及文献综述
errRevue Neurologique
IF2.3
err2025-05-29
err0
PREAI
errD.M. Chitimus; N. Venturelli; C. Lefeuvre; C. Métay; G. Nicolas; R.-Y. Carlier; P. Laforêt; C. Guémy
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276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands第276届ENMC研讨会：关于全球急性横纹肌溶解症患者最佳诊断路径和管理策略的建议。2024年3月15日至17日，荷兰霍夫多普。
errNEUROMUSCULAR DISORDERS
IF2.8
err2025-05-01
err0
PREAI
errKruijt, Nick; Laforet, Pascal; Vissing, John; Bhai, Salman; Stemmerik, Mads Godtfeldt; Kleefeld, Felix
err分享
err收藏
The safety of COVID-19 vaccines in a large French series of patients with neuromuscular conditions and the impacts of vaccination on their daily livesCOVID-19疫苗在大型法国队列中神经肌肉疾病患者中的安全性及其对日常生活的影晌
errRevue Neurologique
IF2.3
err2025-04-29
err0
PREAI
errM. Barnay; A. Foubert-Samier; M.-H. Violleau; E. Campana-Salort; P. Cintas; P. Laforêt; S. Mathis; Y. Péréon; C. Tard; F. Sirma; S. Attarian; G. Solé
err分享
err收藏
A model to predict the 6-Minute Walk Distance in Pompe disease预测庞贝病6分钟步行距离的模型
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2025-04-22
err0
PREAI
errEl Kaim, Audrey; Fer, Frederic; Decostre, Valerie; Laforet, Pascal; Hogrel, Jean-Yves
err分享
err收藏
Galectin-3: a novel biomarker of glycogen storage disease type IIIGalectin-3：糖原贮积病III型的新的生物标志物
errCELL DEATH DISCOVERY
IF7
err2025-04-14
err0
errOAAI
errRossiaud, Lucille; Miagoux, Quentin; Benabides, Manon; Reiss, Oceane; Jauze, Louisa; Jarrige, Margot; Polveche, Helene; Malfatti, Edoardo; Laforet, Pascal; Ronzitti, Giuseppe; Nissan, Xavier; Hoch, Lucile
err分享
err收藏
Real-world evidence for Pompe disease remains fragmented. Comment on A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem by Klein et al.
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-02-14
err0
errOAAI
errKruijshaar, Michelle E.; House, Tiffany; Schoser, Benedikt; Laforet, Pascal; Theunissen, Maudy T. M.; Wenninger, Stephan; Hundsberger, Thomas; Diaz-Manera, Jordi; van der Ploeg, Ans T.; van der Beek, Nadine A. M. E.
err分享
err收藏
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-26
err0
PREAI
errGerard, Laurene; Delourme, Megane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonniere, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; de la Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Melanie; Hadouiri, Nawale; Kouton, Ludivine; Laforet, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Veronique; 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, Rafaelle; Magdinier, Frederique
err分享
err收藏
Spinal muscular atrophy is also a disorder of spermatogenesis
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-12-20
err0
errOAAI
errMagot, Armelle; Reignier, Arnaud; Binois, Olivier; Bedat-Millet, Anne Laure; Davion, Jean-Baptiste; Deberge, Louise; Ghorab, Karima; Guyant, Lucie; Laheranne, Emilie; Laforet, Pascal; Lefeuvre, Claire; Mallaret, Martial; Michaud, Maud; Omar, Chahla; Nadaj-Pakleza, Aleksandra; Nicolas, Guillaume; Noury, Jean Baptiste; Pegat, Antoine; Pere, Morgane; Salort-Campana, Emmanuelle; Sole, Guilhem; Spinazzi, Marco; Tard, Celine; Vuillerot, Carole; Pereon, Yann
err分享
err收藏
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
errJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
err2024-10-24
err0
errOAAI
errBahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Francoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Feasson, Leonard; Jacquin-Piques, Agnes; Richard, Pascale; Metay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforet, Pascal; Acket, Blandine; Behin, Anthony; Fernandez-Eulate, Gorka; Leonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocio Nur
err分享
err收藏
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
errBRAIN
IF11.7
err2024-05-02
err1
errOAAI
errTheuriet, Julian; Masingue, Marion; Behin, Anthony; Ferreiro, Ana; Bassez, Guillaume; Jaubert, Pauline; Tarabay, Oriana; Fer, Frederic; Pegat, Antoine; Bouhour, Francoise; Svahn, Juliette; Petiot, Philippe; Jomir, Laurentiu; Chauplannaz, Guy; Cornut-Chauvinc, Catherine; Manel, Veronique; Salort-Campana, Emmanuelle; Attarian, Shahram; Fortanier, Etienne; Verschueren, Annie; Kouton, Ludivine; Camdessanche, Jean-Philippe; Tard, Celine; Magot, Armelle; Pereon, Yann; Noury, Jean-Baptiste; Minot-Myhie, Marie-Christine; Perie, Maud; Taithe, Frederic; Farhat, Yacine; Millet, Anne-Laure; Cintas, Pascal; Sole, 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
err分享
err收藏

研究方向

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合作学者
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Alexis Brice
H 指数: 153 · 论文数: 1.2K
P
Perry Elliott
H 指数: 137 · 论文数: 1.0K
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Philippe Ravaud
H 指数: 131 · 论文数: 1.0K
S
Sylvie Chevret
H 指数: 129 · 论文数: 1.1K
M
Mark A. Tarnopolsky
H 指数: 129 · 论文数: 890
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