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Author/Creator Pozzi, Elisa

1. A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy. Issue 1 (8th December 2020)

Authors:
Giorgio, Elisa; Pesce, Emanuela; Pozzi, Elisa; Sondo, Elvira; Ferrero, Marta; Morerio, Cristina; Borrelli, Giusy; Della Sala, Edoardo; Lorenzati, Martina; Cortelli, Pietro; Buffo, Annalisa; Pedemonte, Nicoletta; Brusco, Alfredo
Journal:
Human mutation
Issue:
Volume 42:Issue 1(2021)
Page Start:
102
Record Type:
Journal Article
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2. A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). Issue 10 (4th May 2017)

Authors:
Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; Lo Buono, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 88:Issue 10(2017)
Page Start:
894
Record Type:
Journal Article
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3. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. (May 2017)

Authors:
Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoro...
Journal:
European journal of paediatric neurology
Issue:
Volume 21:Number 3(2017:May)
Page Start:
475
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗