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[Argentine consensus on late-onset Pompe's disease].
Dubrovsky A, Fulgenzi E, De Vito EL, Barroso F, Berardo A, Bettini M, Binaghi D, Calabrese E, Carlés D, Chaves M, Chloca F, Conti E, Corderi J, Di Gennaro F, Ferradás N, Jáuregui A, Lubieniecki F, Mazia C, Medina M, Pirra L, Politei J, Reisin R, Rosa AL, Rugiero M, Salutto V, Schenone A, Sussini M, Taratuto AL. Dubrovsky A, et al. Among authors: lubieniecki f. Medicina (B Aires). 2018;78 Suppl 1:1-23. Medicina (B Aires). 2018. PMID: 30179846 Free article. Spanish.
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.
Ruggieri V, Lubieniecki F, Meli F, Diaz D, Ferragut E, Saito K, Brockington M, Muntoni F, Fukuyama Y, Taratuto AL. Ruggieri V, et al. Among authors: lubieniecki f. Neuromuscul Disord. 2001 Sep;11(6-7):570-8. doi: 10.1016/s0960-8966(01)00199-7. Neuromuscul Disord. 2001. PMID: 11525887
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
Loos MA, Gomez G, Mayorga L, Caraballo RH, Eiroa HD, Obregon MG, Rugilo C, Lubieniecki F, Taratuto AL, Saccoliti M, Alonso CN, Aráoz HV. Loos MA, et al. Among authors: lubieniecki f. Mol Genet Metab Rep. 2021 Feb 25;27:100733. doi: 10.1016/j.ymgmr.2021.100733. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33717984 Free PMC article.
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: lubieniecki f. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P. Bitoun M, et al. Among authors: lubieniecki f. Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235. Ann Neurol. 2007. PMID: 17932957
61 results