Mela J - Search Results

1

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.

Strafella C, Campoli G, Galota RM, Caputo V, Pagliaroli G, Carboni S, Zampatti S, Peconi C, Mela J, Sancricca C, Primiano G, Minozzi G, Servidei S, Cascella R, Giardina E. Strafella C, et al. Among authors: mela j. Front Neurol. 2019 Jun 13;10:619. doi: 10.3389/fneur.2019.00619. eCollection 2019. Front Neurol. 2019. PMID: 31263448 Free PMC article.

2

Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.

Zampatti S, Mela J, Peconi C, Pagliaroli G, Carboni S, Barrano G, Zito I, Cascella R, Marella G, Milano F, Arcangeli M, Caltagirone C, Novelli A, Giardina E. Zampatti S, et al. Among authors: mela j. Prenat Diagn. 2018 Dec;38(13):1096-1102. doi: 10.1002/pd.5369. Epub 2018 Nov 20. Prenat Diagn. 2018. PMID: 30303263

3

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Zampatti S, Colantoni L, Strafella C, Galota RM, Caputo V, Campoli G, Pagliaroli G, Carboni S, Mela J, Peconi C, Gambardella S, Cascella R, Giardina E. Zampatti S, et al. Among authors: mela j. Neurogenetics. 2019 May;20(2):57-64. doi: 10.1007/s10048-019-00575-4. Epub 2019 Mar 25. Neurogenetics. 2019. PMID: 30911870 Review.

4

Genetic Counseling and NGS Screening for Recessive LGMD2A Families.

Strafella C, Caputo V, Campoli G, Galota RM, Mela J, Zampatti S, Minozzi G, Sancricca C, Servidei S, Giardina E, Cascella R. Strafella C, et al. Among authors: mela j. High Throughput. 2020 May 10;9(2):13. doi: 10.3390/ht9020013. High Throughput. 2020. PMID: 32397577 Free PMC article.

5

Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.

Barati S, Fabrizio C, Strafella C, Cascella R, Caputo V, Megalizzi D, Peconi C, Mela J, Colantoni L, Caltagirone C, Termine A, Giardina E. Barati S, et al. Among authors: mela j. Genes (Basel). 2022 Aug 22;13(8):1498. doi: 10.3390/genes13081498. Genes (Basel). 2022. PMID: 36011409 Free PMC article. Review.

6

Ultrasound tissue characterization does not differentiate genotype, but indexes ejection fraction deterioration in becker muscular dystrophy.

Giglio V, Puddu PE, Holland MR, Camastra G, Ansalone G, Ricci E, Mela J, Sciarra F, Di Gennaro M. Giglio V, et al. Among authors: mela j. Ultrasound Med Biol. 2014 Dec;40(12):2777-85. doi: 10.1016/j.ultrasmedbio.2014.06.011. Epub 2014 Oct 11. Ultrasound Med Biol. 2014. PMID: 25308949

7

Coronary microvascular dysfunction and atrial reservoir function.

Mela J, Riou L, Barone-Rochette G. Mela J, et al. Cardiovasc Ultrasound. 2024 May 14;22(1):5. doi: 10.1186/s12947-024-00324-0. Cardiovasc Ultrasound. 2024. PMID: 38745211 Free PMC article.

8

Escherichia coli recombinant expression of SARS-CoV-2 protein fragments.

McGuire BE, Mela JE, Thompson VC, Cucksey LR, Stevens CE, McWhinnie RL, Winkler DFH, Pelech S, Nano FE. McGuire BE, et al. Among authors: mela je. Microb Cell Fact. 2022 Feb 5;21(1):21. doi: 10.1186/s12934-022-01753-0. Microb Cell Fact. 2022. PMID: 35123472 Free PMC article.

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