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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 AL, Akman HO, Saccoliti M, Riudavets M, Arakaki N, Mesa L, Sevlever G, Goebel H, DiMauro S. Taratuto AL, et al. Among authors: saccoliti m. Neuromuscul Disord. 2010 Dec;20(12):783-90. doi: 10.1016/j.nmd.2010.07.275. Epub 2010 Sep 15. Neuromuscul Disord. 2010. PMID: 20833045
Childhood neuronal ceroid-lipofuscinoses in Argentina.
Taratuto AL, Saccoliti M, Sevlever G, Ruggieri V, Arroyo H, Herrero M, Massaro M, Fejerman N. Taratuto AL, et al. Among authors: saccoliti m. Am J Med Genet. 1995 Jun 5;57(2):144-9. doi: 10.1002/ajmg.1320570207. Am J Med Genet. 1995. PMID: 7668319
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: saccoliti m. 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.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB. Labasse C, et al. Among authors: saccoliti m. Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0. Acta Neuropathol Commun. 2022. PMID: 35810298 Free PMC article.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Among authors: saccoliti m. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.
18 results