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Page 1
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: malfatti e. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. Malfatti E, et al. Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31. Ann Neurol. 2014. PMID: 25272951 Free PMC article.
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I. De Cid R, et al. Among authors: malfatti e. Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581302 Free PMC article.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. Vasli N, et al. Among authors: malfatti e. Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. Brain. 2017. PMID: 27816943 Free PMC article.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J. Lornage X, et al. Among authors: malfatti e. Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20. Ann Neurol. 2017. PMID: 28220527
Update on new muscle glycogenosis.
Laforêt P, Malfatti E, Vissing J. Laforêt P, et al. Among authors: malfatti e. Curr Opin Neurol. 2017 Oct;30(5):449-456. doi: 10.1097/WCO.0000000000000484. Curr Opin Neurol. 2017. PMID: 28737584 Review.
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM. Ben Yaou R, et al. Among authors: malfatti e. Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264399 Free PMC article.
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.
Vidal P, Pagliarani S, Colella P, Costa Verdera H, Jauze L, Gjorgjieva M, Puzzo F, Marmier S, Collaud F, Simon Sola M, Charles S, Lucchiari S, van Wittenberghe L, Vignaud A, Gjata B, Richard I, Laforet P, Malfatti E, Mithieux G, Rajas F, Comi GP, Ronzitti G, Mingozzi F. Vidal P, et al. Among authors: malfatti e. Mol Ther. 2018 Mar 7;26(3):890-901. doi: 10.1016/j.ymthe.2017.12.019. Epub 2017 Dec 28. Mol Ther. 2018. PMID: 29396266 Free PMC article.
136 results