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- [41] Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registryEUROPEAN JOURNAL OF NEUROLOGY, 2024, 31 (10)Retailleau, Emilie论文数: 0 引用数: 0 h-index: 0机构: Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceLefeuvre, Claire论文数: 0 引用数: 0 h-index: 0机构: Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, France Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceDe Antonio, Marie论文数: 0 引用数: 0 h-index: 0机构: Clermont Ferrand Univ Hosp, Biostat Unit, Direct Rech Clin & Innovat, Clermont Ferrand, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceBouhour, Francoise论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Electroneuromyog & Pathol Neuromusculaires, Lyon, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceTard, Celine论文数: 0 引用数: 0 h-index: 0机构: Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France Univ Lille, Lille Univ Hosp Ctr, Inst Natl St & Rech Med, U1172,Lille Neurosci & Cognit, Lille, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceSalort-Campana, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Adultes, Assistance Publ Hop Marseille, Ctr Reference Malad Neuromusculaires, Marseille, France FILiere NEuro MUSculaire, PACA Reunion Rhone Alpes Reference Ctr Neuromuscul, Marseille, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceLagrange, Emmeline论文数: 0 引用数: 0 h-index: 0机构: Grenoble Univ Hosp, Dept Neurol, Grenoble, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceBehin, Anthony论文数: 0 引用数: 0 h-index: 0机构: Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France GH Pitie Salpetriere, Assistance Publ Hop Paris, Inst Myol, Serv Neuromyol, Paris, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceSole, Guilhem论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, Bordeaux Univ Hosp Pellegrin, Neuromuscular Reference Ctr, Bordeaux, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceNoury, Jean-Baptiste论文数: 0 引用数: 0 h-index: 0机构: CHRU Brest, Ctr Reference Malad Neuromusculaires Atlantique Oc, Unite Mixte Rech 1227, Inst Natl Sante & Rech Med,Lymphocytes B Autoimmun, Brest, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceSacconi, Sabrina论文数: 0 引用数: 0 h-index: 0机构: Univ Cote Azur, CHU Nice, Peripheral Nervous Syst & Muscle Dept, Nice, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceMagot, Armelle论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, FILNEMUS, Ctr Reference Malad Neuromusculaires AOC, European Neuro Muscular Dis, Nantes, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FrancePakleza, Aleksandra Nadaj论文数: 0 引用数: 0 h-index: 0机构: Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France Univ Hosp, Dept Neurol, Strasbourg, France GH Pitie Salpetriere, European Neuro Muscular Dis European Reference Net, Inst Myol, Paris, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceOrlikowski, David论文数: 0 引用数: 0 h-index: 0机构: Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France GHU Paris Saclay, AP HP, Inst Natl Sante & Rech Med, CIC 1429, Garches, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceBeltran, Stephane论文数: 0 引用数: 0 h-index: 0机构: Francois Rabelais Univ, Amyotroph Lateral Sclerosis Ctr, Tours, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceSpinazzi, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Neuromuscular Reference Ctr, Dept Neurol, Angers, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceCintas, Pascal论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Hop Purpan, Dept Neurol, Toulouse, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceFournier, Maxime论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Dept Neurol, Normandie, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceBouibede, Fatma论文数: 0 引用数: 0 h-index: 0机构: CHR Orleans, Internal Med Dept, Orleans, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FrancePrigent, Helene论文数: 0 引用数: 0 h-index: 0机构: Univ Versailles St Quentin En Yvelines, Inst Natl Sante & Rech Med, Paris Saclay, Versailles, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceNicolas, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, France Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France Univ Versailles St Quentin En Yvelines, Inst Natl Sante & Rech Med, Paris Saclay, Versailles, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceTaouagh, Nadjib论文数: 0 引用数: 0 h-index: 0机构: Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, France Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceEl Guizani, Taissir论文数: 0 引用数: 0 h-index: 0机构: Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, France Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceAttarian, Shahram论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Adultes, Assistance Publ Hop Marseille, Ctr Reference Malad Neuromusculaires, Marseille, France FILiere NEuro MUSculaire, PACA Reunion Rhone Alpes Reference Ctr Neuromuscul, Marseille, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceArrassi, Azzeddine论文数: 0 引用数: 0 h-index: 0机构: Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France GH Pitie Salpetriere, Assistance Publ Hop Paris, Inst Myol, Serv Neuromyol, Paris, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceHamroun, Dalil论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Montpellier, Hop Arnaud de Villeneuve, Montpellier, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, FranceLaforet, Pascal论文数: 0 引用数: 0 h-index: 0机构: Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, France Federat Hosp Univ PHENIX, Nord Est Ile de France Neuromuscular Reference Ctr, Garches, France Univ Versailles St Quentin En Yvelines, Inst Natl Sante & Rech Med, Paris Saclay, Versailles, France Raymond Poincare Univ Hosp, Assistance Publ Hop Paris, Neurol Dept, Garches, France
- [42] Case report: Pompe diseaseACTA CARDIOLOGICA, 2025,Hu, Shuyi论文数: 0 引用数: 0 h-index: 0机构: Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiol, Wuhan, Hubei, Peoples R China Wuhan Univ Sci & Technol, Sch Med, Wuhan, Hubei, Peoples R China Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiol, Wuhan, Hubei, Peoples R ChinaYan, Hua论文数: 0 引用数: 0 h-index: 0机构: Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiol, Wuhan, Hubei, Peoples R China Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiol, Wuhan, Hubei, Peoples R ChinaLong, Yanli论文数: 0 引用数: 0 h-index: 0机构: Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiothorac Surg, Wuhan, Hubei, Peoples R China Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiol, Wuhan, Hubei, Peoples R ChinaZhu, Handong论文数: 0 引用数: 0 h-index: 0机构: Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiol, Wuhan, Hubei, Peoples R China Wuhan Univ Sci & Technol, Sch Med, Wuhan, Hubei, Peoples R China Wuhan Univ Sci & Technol, Wuhan Asia Heart Hosp, Dept Cardiol, Wuhan, Hubei, Peoples R China
- [43] The pompe registry: Centralized data collection to track the natural course of Pompe disease.MOLECULAR GENETICS AND METABOLISM, 2008, 93 (03) : 254 - 254论文数: 引用数: h-index:机构:Byrne, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Congenital Heart Ctr, Gainesville, FL USA Duke Univ, Med Ctr, Div Med Genet, Durham, NC USACase, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Congenital Heart Ctr, Gainesville, FL USA Duke Univ, Med Ctr, Div Med Genet, Durham, NC USAMerlini, L.论文数: 0 引用数: 0 h-index: 0机构: Duke Med Sch, Dept Commun & Family Med, Div Phys Therapy, Durham, NC USA Duke Univ, Med Ctr, Div Med Genet, Durham, NC USAvan der Ploeg, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Med Genet, I-44100 Ferrara, Italy Duke Univ, Med Ctr, Div Med Genet, Durham, NC USA
- [44] GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistryHUMAN MUTATION, 2019, 40 (11) : 2146 - 2164Reuser, Arnold J. J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlandsvan der Ploeg, Ans T.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Ctr Lysosomal & Metab Dis, Rotterdam, Netherlands Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsChien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsLlerena, Juan, Jr.论文数: 0 引用数: 0 h-index: 0机构: Inst Fernandes Figueira FIOCRUZ, Dept Genet Med, Rio De Janeiro, RJ, Brazil Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsAbbott, Mary-Alice论文数: 0 引用数: 0 h-index: 0机构: Baystate Med Ctr, Dept Pediat, Springfield, MA 01199 USA Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsClemens, Paula R.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15260 USA Univ Pittsburgh, Dept Vet Affairs Med Ctr, Pittsburgh, PA USA Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsKimonis, Virginia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Pediat, Sch Med, Div Genet & Genom Med, Irvine, CA 92717 USA Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsLeslie, Nancy论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsMaruti, Sonia S.论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Cambridge, MA USA Boehringer Ingelheim Pharmaceut, Ingelheim, Germany Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsSanson, Bernd-Jan论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Cambridge, MA USA Kiadis Pharma, Amsterdam, Netherlands Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsAraujo, Roberto论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Cambridge, MA USA Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsPeriquet, Magali论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Amsterdam, Netherlands Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsToscano, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Reference Ctr Rare Neuromuscular Disorders, Dept Clin & Expt Med, Messina, Italy Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, NetherlandsKishnani, Priya S.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet Dept, Durham, NC 27710 USA Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands
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- [48] Pompe disease: Design, methodology, and early findings from the Pompe Registry (vol 103, pg 1, 2011)MOLECULAR GENETICS AND METABOLISM, 2011, 104 (03) : 424 - 424Byrne, Barry J.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USA Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USAKishnani, Priya S.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USACase, Laura E.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Div Phys Therapy, Dept Community & Family Med, Durham, NC 27710 USA Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USAMerlini, Luciano论文数: 0 引用数: 0 h-index: 0机构: Ist Ortoped Rizzoli, Lab Biol Cellulare Muscoloscheletr, I-40136 Bologna, Italy Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USAMueller-Felber, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Friedrich Baur Inst, Munich, Germany Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USAPrasad, Suyash论文数: 0 引用数: 0 h-index: 0机构: Genzyme Corp, Cambridge, MA USA Cromwell Hosp, Dept Paediat, London, England Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USAvan der Ploeg, Ans论文数: 0 引用数: 0 h-index: 0机构: Sophia Childrens Univ Hosp, Erasmus Med Ctr, Rotterdam, Netherlands Univ Florida, Coll Med, Dept Pediat, Gainesville, FL 32610 USA
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- [50] The French Pompe registry: A prospective clinical survey of patients with late onset Pompe disease in FranceNEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 796 - 797Vincitorio, C.论文数: 0 引用数: 0 h-index: 0机构: Salpetriere Hosp, Inst Myol, Paris, France Salpetriere Hosp, Inst Myol, Paris, FrancePayant, C.论文数: 0 引用数: 0 h-index: 0机构: Salpetriere Hosp, Inst Myol, Paris, France Salpetriere Hosp, Inst Myol, Paris, FranceDoppler, V论文数: 0 引用数: 0 h-index: 0机构: Salpetriere Hosp, Inst Myol, Paris, France Salpetriere Hosp, Inst Myol, Paris, FranceOrlikowski, D.论文数: 0 引用数: 0 h-index: 0机构: R Poincare Hosp, Garches, France Salpetriere Hosp, Inst Myol, Paris, FrancePellegrim, N.论文数: 0 引用数: 0 h-index: 0机构: R Poincare Hosp, Garches, France Salpetriere Hosp, Inst Myol, Paris, FranceAttarian, S.论文数: 0 引用数: 0 h-index: 0机构: Timone Univ Hosp, Marseille, France Salpetriere Hosp, Inst Myol, Paris, FrancePouget, J.论文数: 0 引用数: 0 h-index: 0机构: Timone Univ Hosp, Marseille, France Salpetriere Hosp, Inst Myol, Paris, FranceStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Salpetriere Hosp, Inst Myol, Paris, France Salpetriere Hosp, Inst Myol, Paris, FranceSaccom, S.论文数: 0 引用数: 0 h-index: 0机构: Nice Univ Hosp, Nice, France Salpetriere Hosp, Inst Myol, Paris, FranceDesnuelle, C.论文数: 0 引用数: 0 h-index: 0机构: Nice Univ Hosp, Nice, France Salpetriere Hosp, Inst Myol, Paris, FranceZagnoli, F.论文数: 0 引用数: 0 h-index: 0机构: Clermont Tonnerre Hosp, Brest, France Salpetriere Hosp, Inst Myol, Paris, FranceFeasson, L.论文数: 0 引用数: 0 h-index: 0机构: Univ St Etienne, Bellevue Hosp Ctr, St Etienne, France Salpetriere Hosp, Inst Myol, Paris, FranceLabauge, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Montpellier, Nimes, France Salpetriere Hosp, Inst Myol, Paris, FrancePenisson-Besnier, I论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Angers, France Salpetriere Hosp, Inst Myol, Paris, FranceMinot-Myhe, M.论文数: 0 引用数: 0 h-index: 0机构: Pontchaillou Hosp, Rennes, France Salpetriere Hosp, Inst Myol, Paris, FranceEymard, B.论文数: 0 引用数: 0 h-index: 0机构: Salpetriere Hosp, Inst Myol, Paris, France Salpetriere Hosp, Inst Myol, Paris, FranceLaforet, P.论文数: 0 引用数: 0 h-index: 0机构: Salpetriere Hosp, Inst Myol, Paris, France Salpetriere Hosp, Inst Myol, Paris, France