DiMauro S - Search Results

1

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

2

Branching enzyme deficiency: expanding the clinical spectrum.

Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S. Paradas C, et al. Among authors: dimauro s. JAMA Neurol. 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. JAMA Neurol. 2014. PMID: 24248152 Free PMC article.

3

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

4

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.

5

TK2 mutation presenting as indolent myopathy.

Paradas C, Gutiérrez Ríos P, Rivas E, Carbonell P, Hirano M, DiMauro S. Paradas C, et al. Among authors: dimauro s. Neurology. 2013 Jan 29;80(5):504-6. doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Neurology. 2013. PMID: 23303857 Free PMC article.

6

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.

7

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, DiMauro S, Hirano M. Paradas C, et al. Among authors: dimauro s. JAMA Neurol. 2013 Nov;70(11):1425-8. doi: 10.1001/jamaneurol.2013.3185. JAMA Neurol. 2013. PMID: 24018892 Free PMC article.

8

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.

9

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

10

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.

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