Limb-girdle muscular dystrophy 1 G (LGMD1G) with numerous rimmed vacuoles due to a defect in the RNA-binding protein HNRNPDL – Report of an Argentinian family of Italian ancestry
Lornage, X, Romero, N, Laporte, J, Dubrovsky, A, Barroso, F, Saccoliti, M, Taratuto, A
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
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
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)
Get full text
Journal Article
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
Taratuto, A.L, Akman, H.O, Saccoliti, M, Riudavets, M, Arakaki, N, Mesa, L, Sevlever, G, Goebel, H, DiMauro, S
Published in Neuromuscular disorders : NMD (01.12.2010)
Published in Neuromuscular disorders : NMD (01.12.2010)
Get full text
Journal Article
P2.9 LMNA-related congenital muscular dystrophy: Clinical, pathological and molecular findings
Monges, M.S, Lubieniecki, F, Quijano-Roy, S, Saccoliti, M, Romero, N.B, Richard, P, Taratuto, A.L
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
Get full text
Journal Article
G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study
Malfatti, E, Olivé, M, Taratuto, A.L, Richard, P, Bitoun, M, Brochier, G, Laforêt, P, Stojkovic, T, Alexianu, M, Maisonobe, T, Saccoliti, M, Prudhon, B, Lacène, E, Eymard, B, Fardeau, M, Bonne, G, Romero, N.B
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
Get full text
Journal Article
P2.10 A new form of congenital muscular dystrophy with subsarcolemmal inclusions arising from disintegrated myonuclei
Taratuto, A.L, Nelson, I, Olivé, M, Waisburg, H, Saccoliti, M, Beuvin, M, Chauveau, D, Richard, P, Voit, T, Bonne, G, Romero, N.B
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
Get full text
Journal Article
G.P.1.07 Progressive muscle biopsies morphological changes in long-term follow-up of multiminicore disease related to RYR1 gene
Taratuto, A.L, Saccoliti, M, Lubieniecki, F, Monnier, N, Romero, N, Richard, P, Lunardi, J
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
Get full text
Journal Article
P3.36. Phenotypic spectrum in myopathies with tubular aggregates
Funk, F, Ceuterick-de Groote, C, Martin, J.J, Meinhardt, A, de Bleecker, J, de Jonghe, P, Taratuto, A.L, Saccoliti, M, Schröder, J.M, Schulz, J.B, Weis, J, Claeys, K.G
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
Get full text
Journal Article
ALA and ALA hexyl ester in free and liposomal formulations for the photosensitisation of tumour organ cultures
CASAS, A, PEROTTI, C, SACCOLITI, M, SACCA, P, FUKUDA, H, DEL C BATTLE, A. M
Published in British journal of cancer (04.03.2002)
Published in British journal of cancer (04.03.2002)
Get full text
Journal Article
G.P.16.04. Branching enzyme deficiency should be considered in the differential diagnosis of severe congenital hypotonia
Taratuto, A.L, Akman, H.O, Saccoliti, M, Riudavets, M, Arakaki, N, Fernández, M, Mesa, L, Sevlever, G, Goebel, H, Di Mauro, S
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
Get full text
Journal Article
P.12 - Limb-girdle muscular dystrophy 1 G (LGMD1G) with numerous rimmed vacuoles due to a defect in the RNA-binding protein HNRNPDL – Report of an Argentinian family of Italian ancestry
Lornage, X., Romero, N., Laporte, J., Dubrovsky, A., Barroso, F., Saccoliti, M., Taratuto, A.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
GFPT1-related limb-girdle myasthenia: First case reported in Argentina
Rugiero, M., Gonorazky, H., Bettini, M., Saccoliti, M., Lornage, X., Böhm, J., Laporte, J., Romero, N., Taratuto, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
Journal Article
P.418 - GFPT1-related limb-girdle myasthenia: First case reported in Argentina
Rugiero, M., Gonorazky, H., Bettini, M., Saccoliti, M., Lornage, X., Böhm, J., Laporte, J., Romero, N., Taratuto, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
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
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)
Get full text
Journal Article
Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case
Taratuto, A L, Sevlever, G, Saccoliti, M, Caceres, L, Schultz, M
Published in Acta neuropathologica (01.01.1990)
Published in Acta neuropathologica (01.01.1990)
Get more information
Journal Article