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Berge A. Minassian

Researcher at University of Texas Southwestern Medical Center

Publications -  251
Citations -  14367

Berge A. Minassian is an academic researcher from University of Texas Southwestern Medical Center. The author has contributed to research in topics: Lafora disease & Progressive myoclonus epilepsy. The author has an hindex of 47, co-authored 234 publications receiving 12689 citations. Previous affiliations of Berge A. Minassian include University of California, Los Angeles & Veterans Health Administration.

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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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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

Berge A. Minassian, +18 more
- 01 Oct 1998 - 
TL;DR: A novel gene, EPM2A, is identified at chromosome 6q24 that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP) that is predicted to cause deleterious effects in the putative protein product, named laforin, resulting in Lafora's disease.
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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Gevork N. Mnatzakanian, +12 more
- 21 Mar 2004 - 
TL;DR: A previously unknown MeCP2 isoform is described and mutations unique to this isoform and the absence of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Fadi F. Hamdan, +119 more
- 02 Nov 2017 - 
TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.
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Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M. Chan, +15 more
- 07 Sep 2003 - 
TL;DR: A second gene associated with Lafora progressive myoclonus epilepsy is identified, NHLRC1 (also called EPM2B), which encodes malin, a putative E3 ubiquitin ligase with a RING finger domain and six NHL motifs, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy.