Maria Elena Onore - Search Results

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Results by year

Year	Number of Results
2019	1
2020	2
2021	4
2022	2
2023	3
2024	3

14 results

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Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.

Onore ME, Picillo E, D'Ambrosio P, Morra S, Nigro V, Politano L. Onore ME, et al. Biomolecules. 2024 Apr 22;14(4):507. doi: 10.3390/biom14040507. Biomolecules. 2024. PMID: 38672523 Free PMC article.

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

Picillo E, Onore ME, Passamano L, Nigro V, Politano L. Picillo E, et al. Among authors: onore me. Acta Myol. 2024 Feb 21;43(1):21-26. doi: 10.36185/2532-1900-411. eCollection 2024. Acta Myol. 2024. PMID: 38586167 Free PMC article. Review.

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

Onore ME, Caiazza M, Farina A, Scarano G, Budillon A, Borrelli RN, Limongelli G, Nigro V, Piluso G. Onore ME, et al. Genes (Basel). 2023 Dec 25;15(1):32. doi: 10.3390/genes15010032. Genes (Basel). 2023. PMID: 38254922 Free PMC article.

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Among authors: onore me. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406

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.

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.

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.

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.

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.

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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