| Title : Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia - Di Rocco_2021_Hum.Mol.Genet__ |
| Author(s) : Di Rocco M , Galosi S , Lanza E , Tosato F , Caprini D , Folli V , Friedman J , Bocchinfuso G , Martire A , Di Schiavi E , Leuzzi V , Martinelli S |
| Ref : Hum Mol Genet , : , 2021 |
| Abstract : Di Rocco_2021_Hum.Mol.Genet__ |
| ESTHER : Di Rocco_2021_Hum.Mol.Genet__ |
| PubMedSearch : Di Rocco_2021_Hum.Mol.Genet__ |
| PubMedID: 34622282 |
| Title : Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 - |
| Author(s) : Travaglini L , Aiello C , Alesi V , Loddo S , Novelli A , Tozzi G , Bertini E , Leuzzi V , Brancati F |
| Ref : Brain Dev , 39 :182 , 2017 |
| PubMedID: 27639779 |
| Title : Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome - Zollino_2011_Eur.J.Hum.Genet_19_239 |
| Author(s) : Zollino M , Gurrieri F , Orteschi D , Marangi G , Leuzzi V , Neri G |
| Ref : Eur J Hum Genet , 19 :239 , 2011 |
| Abstract : Zollino_2011_Eur.J.Hum.Genet_19_239 |
| ESTHER : Zollino_2011_Eur.J.Hum.Genet_19_239 |
| PubMedSearch : Zollino_2011_Eur.J.Hum.Genet_19_239 |
| PubMedID: 21119708 |