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Alessandra Bolino

Researcher at Wellcome Trust Centre for Human Genetics

Publications -  40
Citations -  8901

Alessandra Bolino is an academic researcher from Wellcome Trust Centre for Human Genetics. The author has contributed to research in topics: Myelin & Schwann cell. The author has an hindex of 24, co-authored 38 publications receiving 8308 citations. Previous affiliations of Alessandra Bolino include University of Genoa & Istituto Giannina Gaslini.

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
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Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Alison J. Coffey, +43 more
- 01 Oct 1998 - 
TL;DR: A gene, SH2D1A, is identified that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain that is expressed in many tissues involved in the immune system.
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A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd, +15 more
- 01 Feb 1996 - 
TL;DR: Investigation of 11 kindreds with renal tubular disorders for CLCN5 abnormalities identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one micro-deletion encompassing the entire gene.
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Alessandra Bolino, +14 more
- 01 May 2000 - 
TL;DR: Using a positional-cloning strategy, mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP) are identified in unrelated CMT4B patients.
Journal Article

RET mutations in exons 13 and 14 of FMTC patients.

Alessandra Bolino, +9 more
- 15 Jun 1995 - 
TL;DR: Haplotype analysis using polymorphic markers tightly linked to the RET gene indicates that in each pedigree the mutation arose as an independent event.