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Page 1
In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case-control study.
Pijnenburg L, Giannini M, Bouchard-Marmen M, Arnaud L, Barsotti S, Bellando-Randone S, Bernardi L, Bini P, Blagojevic J, Codullo V, Couderc M, De Moreuil C, Dernis E, Diamanti L, Dubost JJ, Duval F, Emmi G, Galempoix JM, Geny B, Gottenberg JE, Groza M, Guffroy A, Guichard I, Guilpain P, Hervier B, Hudson M, Iaccarino L, Iannone F, Lebrun D, Marchioni E, Mariampillai K, Maurier F, Mosca M, Nadaj-Pakleza A, Nannini C, Piot JM, Prieto-González S, Poursac N, Rouanet E, Sellam J, Selva-O'Callaghan A, Séverac F, Sibilia J, Sole G, Soulages A, Terrier B, Tournadre A, Troyanov Y, Vernier N, Vesperini V, Viallard JF, Ziane R, Cavagna L, Meyer A. Pijnenburg L, et al. Among authors: nadaj pakleza a. RMD Open. 2023 Sep;9(3):e003081. doi: 10.1136/rmdopen-2023-003081. RMD Open. 2023. PMID: 37666644 Free PMC article.
Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple-Source Capture-Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria.
Debrut L, Giannini M, Klein D, Spielmann L, Mertz P, Martin T, Nadaj-Pakleza A, Hirschi S, Nespola B, Lannes B, Terzic J, Hinschberger O, Dervieux B, Lipsker D, Arnaud L, Gottenberg JE, Kleinmann JF, Geny B, Séverac F, Velten M, Sibilia J, Meyer A. Debrut L, et al. Arthritis Rheumatol. 2023 Oct;75(10):1850-1855. doi: 10.1002/art.42561. Epub 2023 Aug 4. Arthritis Rheumatol. 2023. PMID: 37192377
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.
Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M; Pompe Study Group; Attarian S, Laforêt P. Tard C, et al. Eur J Neurol. 2024 Apr 8:e16292. doi: 10.1111/ene.16292. Online ahead of print. Eur J Neurol. 2024. PMID: 38587143
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: nadaj pakleza a. J Neurol. 2024 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.
Fargeot G, Echaniz-Laguna A, Labeyrie C, Svahn J, Camdessanché JP, Cintas P, Chanson JB, Esselin F, Piedvache C, Verstuyft C, Genestet S, Lagrange E, Magy L, Péréon Y, Sacconi S, Signate A, Nadaj-Pakleza A, Taithe F, Viala K, Tard C, Poinsignon V, Cauquil C, Attarian S, Adams D. Fargeot G, et al. Among authors: nadaj pakleza a. Amyloid. 2024 Mar;31(1):62-69. doi: 10.1080/13506129.2023.2270661. Epub 2023 Oct 19. Amyloid. 2024. PMID: 37855400
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: nadaj pakleza a. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Among authors: nadaj pakleza a. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
65 results