Musumeci S - Search Results

1

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.

Scuderi C, Borgione E, Musumeci S, Elia M, Castello F, Fichera M, Davidzon G, DiMauro S. Scuderi C, et al. Among authors: musumeci s. Neuromuscul Disord. 2007 Mar;17(3):258-61. doi: 10.1016/j.nmd.2006.11.006. Epub 2007 Jan 22. Neuromuscul Disord. 2007. PMID: 17241783

2

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA. Scuderi C, et al. Among authors: musumeci sa. Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Neuromuscul Disord. 2015. PMID: 25660390 Review.

3

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Fichera M, Elia M, Amato C, Savio M, Di Blasi FD, Vitello GA, Romano S, DiMauro S, Musumeci SA. Scuderi C, et al. Among authors: musumeci sa. Mitochondrion. 2010 Aug;10(5):548-54. doi: 10.1016/j.mito.2010.04.004. Epub 2010 Apr 28. Mitochondrion. 2010. PMID: 20433951

4

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

Borgione E, Lo Giudice M, Castello F, Musumeci SA, Di Blasi FD, Savio M, Elia M, Rizzo B, Barbarino G, Romano S, Calabrese G, Di Benedetto D, Scuderi C. Borgione E, et al. Among authors: musumeci sa. Neurol Sci. 2013 Jul;34(7):1223-6. doi: 10.1007/s10072-013-1297-9. Epub 2013 Jan 25. Neurol Sci. 2013. PMID: 23354605

5

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.

Falco M, Scuderi C, Musumeci S, Sturnio M, Neri M, Bigoni S, Caniatti L, Fichera M. Falco M, et al. Among authors: musumeci s. Neuromuscul Disord. 2004 Nov;14(11):750-3. doi: 10.1016/j.nmd.2004.05.017. Neuromuscul Disord. 2004. PMID: 15482961

6

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.

Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, Borgione E, Vitello GA, Musumeci SA. Scuderi C, et al. Among authors: musumeci sa. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):440-3. doi: 10.1136/jnnp.2008.154807. J Neurol Neurosurg Psychiatry. 2009. PMID: 19289482

7

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

Di Benedetto D, Musumeci SA, Avola E, Alberti A, Buono S, Scuderi C, Grillo L, Galesi O, Spalletta A, Giudice ML, Luciano D, Vinci M, Bianca S, Romano C, Fichera M. Di Benedetto D, et al. Among authors: musumeci sa. Am J Med Genet A. 2014 Aug;164A(8):1923-30. doi: 10.1002/ajmg.a.36570. Epub 2014 Apr 14. Am J Med Genet A. 2014. PMID: 24733578

8

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione E, Castello F, Lo Giudice M, Santa Paola S, Salvatore S, Berti G, Malandrini A, Bottitta M, Musumeci SA, Scuderi C. Borgione E, et al. Among authors: musumeci sa. Neurol Sci. 2016 May;37(5):805-7. doi: 10.1007/s10072-015-2439-z. Epub 2015 Dec 23. Neurol Sci. 2016. PMID: 26700800 No abstract available.

9

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.

Musumeci SA, Elia M, Fichera M, Amato C, Ferri R, Romano C, Federico A. Musumeci SA, et al. Neurol Sci. 2006 Dec;27(6):425-31. doi: 10.1007/s10072-006-0724-6. Neurol Sci. 2006. PMID: 17205229

10

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome.

Musumeci SA, Elia M, Ferri R, Romano C, Scuderi C, Del Gracco S. Musumeci SA, et al. Brain Dev. 1995 Mar-Apr;17(2):133-8; discussion 142-3. doi: 10.1016/0387-7604(95)00013-2. Brain Dev. 1995. PMID: 7625549

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