Expanding the clinical and molecular findings in a patient with Pompe disease
Lubieniecki, F, Mozzoni, J, de Castro, M, Foncuberta, E, Schenone, A, Saccoliti, M, Taratuto, A, Monges, S
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
G.P.265
Monges, S, Lubieniecki, F, Castro, F, Mozzoni, J, Leske, V, Gravina, P, Saccoliti, M, Malfatti, E, Bohm, J, Laporte, J, Romero, N.B, Taratuto, A.L
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.275
Lubieniecki, F, Monges, S, Mozzoni, J, Moresco, A, Aguerre, V, de Castro, M.F, Pozzo, N, Foncuberta, E, Seraphin, C. Bouchet, Romero, N.B, Taratuto, A.L
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
EP.63Clinical, pathological, and molecular findings in Argentine patients with nonsense mutations in the DMD gene
Foncuberta, M., Lubieniecki, F., Gallo, A., Crespo, A., Mozzoni, J., de Castro, F., Aguerre, V., Araoz, V., Chertkoff, L., Gravina, P., Monges, S.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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P.156Unusual respiratory pattern in children with NEB-related core-rod myopathy
Aguerre, V., Leske, V., de Castro, M., Mozzoni, J., Guerdile, M., Gravina, P., Lornage, X., Bohm, J., Romero, N., Laporte, J., Monges, S.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES
Monges, S., Mozzoni, J., Franchi, M., Medrano, S., Gravina, L., Aráoz, H., de Castro, F., Aguerre, V., Alías, L., Chertkoff, L., Tizzano, E., Bernal, S.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.84Clinical discordance in spinal muscular atrophy siblings: the exception or the rule?
Monges, S., Mozzoni, J., Franchi, M., Medrano, S., Gravina, L., Aráoz, H., de Castro, F., Aguerre, V., Alías, L., Chertkoff, L., Tizzano, E., Bernal, S.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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Journal Article
P.63 - Expanding the clinical and molecular findings in a patient with Pompe disease
Lubieniecki, F., Mozzoni, J., de Castro, M., Foncuberta, E., Schenone, A., Saccoliti, M., Taratuto, A., Monges, S.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
“Core-rod” congenital myopathy with bilateral foot-drop. A challenging clinical and genetic diagnosis
Monges, S., Lubieniecki, F., Leal, C. Paz Vargas, de Castro, F., Aguerre, V., Mozzoni, J., Foncuberta, E., Monnier, N., Böhm, J., Laporte, J., Malfatti, E., Sacolitti, M., Taratuto, A., Romero, N.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.287 - “Core-rod” congenital myopathy with bilateral foot-drop. A challenging clinical and genetic diagnosis
Monges, S., Lubieniecki, F., Leal, C. Paz Vargas, de Castro, F., Aguerre, V., Mozzoni, J., Foncuberta, E., Monnier, N., Böhm, J., Laporte, J., Malfatti, E., Sacolitti, M., Taratuto, A., Romero, N.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
G.P.265: Nebulin-related nemaline myopathy: Clinical and histopathological spectrum in Argentinean patients
Monges, S., Lubieniecki, F., Castro, F., Mozzoni, J., Leske, V., Gravina, P., Saccoliti, M., Malfatti, E., Bohm, J., Laporte, J., Romero, N.B., Taratuto, A.L.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.275: Expanding the clinical and genetic spectrum of FKRP-related myopathies in Argentinean pediatric patients
Lubieniecki, F., Monges, S., Mozzoni, J., Moresco, A., Aguerre, V., de Castro, M.F., Pozzo, N., Foncuberta, E., Seraphin, C. Bouchet, Romero, N.B., Taratuto, A.L.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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