Publications by authors named "Giada Melistaccio"

2Publications

A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants.

Parkinsonism Relat Disord 2020 Sep 22;80:138-141. Epub 2020 Sep 22.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090, Pieve Emanuele, Milan, Italy; Humanitas Clinical and Research Center, IRCCS, Via Manzoni 56, 20089, Rozzano, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.09.036DOI Listing
September 2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020