Dimauro S - Search Results

1

Adult polyglucosan body disease: a case report of a manifesting heterozygote.

Ubogu EE, Hong ST, Akman HO, Dimauro S, Katirji B, Preston DC, Shapiro BE. Ubogu EE, et al. Among authors: dimauro s. Muscle Nerve. 2005 Nov;32(5):675-81. doi: 10.1002/mus.20384. Muscle Nerve. 2005. PMID: 16007674

2

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Peverelli L, Gold CA, Naini AB, Tanji K, Akman HO, Hirano M, Dimauro S. Peverelli L, et al. Among authors: dimauro s. Muscle Nerve. 2014 Aug;50(2):292-5. doi: 10.1002/mus.24262. Muscle Nerve. 2014. PMID: 24711008 Free PMC article.

3

A myopathy with unusual features caused by PNPLA2 gene mutations.

Pennisi EM, Missaglia S, Dimauro S, Bernardi C, Akman HO, Tavian D. Pennisi EM, et al. Among authors: dimauro s. Muscle Nerve. 2015 Apr;51(4):609-13. doi: 10.1002/mus.24477. Epub 2015 Feb 28. Muscle Nerve. 2015. PMID: 25287355

4

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA. Akman HO, et al. Among authors: dimauro s. JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. JAMA Neurol. 2015. PMID: 25665141

5

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Souza PVS, Badia BML, Farias IB, Pinto WBVR, Oliveira ASB, Akman HO, DiMauro S. Souza PVS, et al. Among authors: dimauro s. J Inherit Metab Dis. 2021 May;44(3):534-543. doi: 10.1002/jimd.12325. Epub 2020 Nov 13. J Inherit Metab Dis. 2021. PMID: 33141444 Review.

6

Muscle phosphoglycerate mutase deficiency revisited.

Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Naini A, et al. Among authors: dimauro s. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. Arch Neurol. 2009. PMID: 19273759

7

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A. Kakhlon O, et al. Among authors: dimauro s. J Neurochem. 2013 Oct;127(1):101-13. doi: 10.1111/jnc.12277. Epub 2013 May 9. J Neurochem. 2013. PMID: 23607684 Free article.

8

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

Akman HO, Aykit Y, Amuk OC, Malfatti E, Romero NB, Maioli MA, Piras R, DiMauro S, Marrosu G. Akman HO, et al. Among authors: dimauro s. Neuromuscul Disord. 2016 Jan;26(1):16-20. doi: 10.1016/j.nmd.2015.10.012. Epub 2015 Nov 10. Neuromuscul Disord. 2016. PMID: 26652229 Free PMC article.

9

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Tay SK, et al. Among authors: dimauro s. Neuromuscul Disord. 2004 Apr;14(4):253-60. doi: 10.1016/j.nmd.2003.12.006. Neuromuscul Disord. 2004. PMID: 15019703

10

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

Akman HO, Sheiko T, Tay SK, Finegold MJ, Dimauro S, Craigen WJ. Akman HO, et al. Among authors: dimauro s. Hum Mol Genet. 2011 Nov 15;20(22):4430-9. doi: 10.1093/hmg/ddr371. Epub 2011 Aug 19. Hum Mol Genet. 2011. PMID: 21856731 Free PMC article.

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