Onore ME - Search Results

1

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.

Pizza A, Picillo E, Onore ME, Scutifero M, Passamano L, Nigro V, Politano L. Pizza A, et al. Among authors: onore me. Acta Myol. 2023 Mar 31;42(1):24-30. doi: 10.36185/2532-1900-246. eCollection 2023. Acta Myol. 2023. PMID: 37091526 Free PMC article. Review.

2

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Viggiano E, Picillo E, Passamano L, Onore ME, Piluso G, Scutifero M, Torella A, Nigro V, Politano L. Viggiano E, et al. Among authors: onore me. Genes (Basel). 2023 Jan 14;14(1):214. doi: 10.3390/genes14010214. Genes (Basel). 2023. PMID: 36672955 Free PMC article.

3

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.

Onore ME, Torella A, Musacchia F, D'Ambrosio P, Zanobio M, Del Vecchio Blanco F, Piluso G, Nigro V. Onore ME, et al. Genes (Basel). 2021 Jan 21;12(2):133. doi: 10.3390/genes12020133. Genes (Basel). 2021. PMID: 33494189 Free PMC article.

4

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

Onore ME, Savarese M, Picillo E, Passamano L, Nigro V, Politano L. Onore ME, et al. Int J Mol Sci. 2022 Dec 14;23(24):15906. doi: 10.3390/ijms232415906. Int J Mol Sci. 2022. PMID: 36555543 Free PMC article.

5

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.

Santoro C, Giugliano T, Bernardo P, Palladino F, Torella A, Del Vecchio Blanco F, Onore ME, Carotenuto M, Nigro V, Piluso G. Santoro C, et al. Among authors: onore me. BMC Neurol. 2020 Sep 1;20(1):327. doi: 10.1186/s12883-020-01911-0. BMC Neurol. 2020. PMID: 32873259 Free PMC article.

6

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: onore me. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.

7

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.

Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B. Savarese M, et al. Among authors: onore me. Neurol Genet. 2021 Aug 10;7(5):e619. doi: 10.1212/NXG.0000000000000619. eCollection 2021 Oct. Neurol Genet. 2021. PMID: 34386585 Free PMC article.

8

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S. Karali M, et al. Among authors: onore me. Sci Rep. 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. Sci Rep. 2022. PMID: 36460718 Free PMC article.

9

Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.

Zacchia M, Blanco FDV, Torella A, Raucci R, Blasio G, Onore ME, Marchese E, Trepiccione F, Vitagliano C, Iorio VD, Alessandra P, Simonelli F, Nigro V, Capasso G, Viggiano D. Zacchia M, et al. Among authors: onore me. Clin Kidney J. 2020 Dec 6;14(6):1545-1551. doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun. Clin Kidney J. 2020. PMID: 34084454 Free PMC article.

10

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants.

Brunetti-Pierri R, Karali M, Testa F, Cappuccio G, Onore ME, Romano F, De Rosa G, Tedeschi E, Brunetti-Pierri N, Banfi S, Simonelli F. Brunetti-Pierri R, et al. Among authors: onore me. Diagnostics (Basel). 2021 Jul 6;11(7):1218. doi: 10.3390/diagnostics11071218. Diagnostics (Basel). 2021. PMID: 34359301 Free PMC article.

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