Concepedia
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Publications
21
Citations
1.1K
H-Index
19
Active since
2002
Affiliations
Istituto Giannina Gaslini(Current)
University of Genoa
Istituti di Ricovero e Cura a Carattere Scientifico
Thomas Jefferson University
Bambino Gesù Children's Hospital
Stefania Assereto is an author at Istituto Giannina Gaslini specializing in life sciences, genetics, and molecular genetics.
Publications per year
2002–2018
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane
Jeremy M. Baskin, Xudong Wu, Romain Christiano et al. · Nature Cell Biology · 2015 · 148 citations · Full text
Life Sciences, Biochemistry, Molecular Biology +8
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
Claudio Bruno, O. P. van Diggelen, Denise Cassandrini et al. · Neurology · 2004 · 132 citations
Life Sciences, Genetics, Molecular Genetics +17
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
Federico Zara, Roberta Biancheri, Claudio Bruno et al. · Nature Genetics · 2006 · 97 citations · Full text
Medicine, Biochemistry, Neurobiology +11
Therapeutic Potential of Proteasome Inhibition in Duchenne and Becker Muscular Dystrophies
Elisabetta Gazzerro, Stefania Assereto, Andrea Bonetto et al. · American Journal Of Pathology · 2010 · 82 citations · Full text
Life Sciences, Biochemistry, Molecular Biology +16
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis
Stefano Regis, Barbara Tappino, Camillo Rosano et al. · Human Mutation · 2007 · 76 citations · Full text
Medicine, Genetics, Molecular Genetics +17
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