Scuderi C - Search Results

1

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

Falco M, Romano C, Alberti A, Greco D, Scuderi C, Avola E, Failla P, Belli S, Tolmie JL, Amata S, Fichera M. Falco M, et al. Among authors: scuderi c. Clin Chem. 2005 Dec;51(12):2356-8. doi: 10.1373/clinchem.2005.056036. Clin Chem. 2005. PMID: 16306095 No abstract available.

2

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. Among authors: scuderi c. 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

3

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: scuderi c. Neuromuscul Disord. 2004 Nov;14(11):750-3. doi: 10.1016/j.nmd.2004.05.017. Neuromuscul Disord. 2004. PMID: 15482961

4

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

Fichera M, Falco M, Lo Giudice M, Castiglia L, Guarnaccia V, Calì F, Spalletta A, Scuderi C, Avola E. Fichera M, et al. Among authors: scuderi c. Clin Genet. 2005 May;67(5):446-7. doi: 10.1111/j.1399-0004.2005.00436.x. Clin Genet. 2005. PMID: 15811016 No abstract available.

5

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. 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

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. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):440-3. doi: 10.1136/jnnp.2008.154807. J Neurol Neurosurg Psychiatry. 2009. PMID: 19289482

7

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. Mitochondrion. 2010 Aug;10(5):548-54. doi: 10.1016/j.mito.2010.04.004. Epub 2010 Apr 28. Mitochondrion. 2010. PMID: 20433951

8

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: scuderi c. 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

9

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Stessman HAF, et al. Among authors: scuderi c. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004. Am J Hum Genet. 2016. PMID: 26942287 Free PMC article.

10

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.

Scuderi C, Saccuzzo L, Vinci M, Castiglia L, Galesi O, Salemi M, Mattina T, Borgione E, Città S, Romano C, Fichera M. Scuderi C, et al. Eur J Hum Genet. 2019 Apr;27(4):594-602. doi: 10.1038/s41431-018-0321-1. Epub 2019 Jan 18. Eur J Hum Genet. 2019. PMID: 30659260 Free PMC article.

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