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Pedro Gonzalez-Alegre

Researcher at University of Pennsylvania

Publications -  98
Citations -  8312

Pedro Gonzalez-Alegre is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Dystonia & Gene silencing. The author has an hindex of 30, co-authored 91 publications receiving 7449 citations. Previous affiliations of Pedro Gonzalez-Alegre include University of Iowa & Hospital of the University of Pennsylvania.

Papers
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Journal ArticleDOI

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.
Journal ArticleDOI

Delineation of the motor disorder of Lesch-Nyhan disease

Hyder A. Jinnah, +20 more
- 01 May 2006 - 
TL;DR: The current study includes the results of a multi-centre international prospective study of the motor disorder in the largest cohort of patients studied to date, which includes a characteristic motor syndrome that involved severe action dystonia superimposed on baseline hypotonia.
Journal ArticleDOI

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

Alexander G. Bassuk, +30 more
- 17 Nov 2008 - 
TL;DR: A mutation in PRICKLE1 is identified (also known as RILP for REST/NRSF interacting LIM domain protein) in all three of these pedigrees of individuals with PME and ataxia, and is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy.
Book ChapterDOI

Towards precision medicine.

Tanya Bardakjian, +1 more
- 01 Jan 2018 - 
TL;DR: This chapter summarizes the current status of personalized medicine in the neurology clinic, including precision diagnostics and individualized therapeutics, and addresses the main hurdles that the healthcare community needs to overcome to expand this model of healthcare delivery.
Journal ArticleDOI

Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia

Pedro Gonzalez-Alegre, +1 more
- 17 Mar 2004 - 
TL;DR: It is demonstrated that torsinA forms different disulfide-linked complexes that may be linked functionally to subcellular localization in the NE versus cytoplasmic ER, and implicate the NE as a primary site of dysfunction in DYT1.