Researcher Profile

Berge A. Minassian

Publications

670

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article Nature Medicine Jun 28, 2024

AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

James J. Dowling · Terry Pirovolakis · Keshini Devakandan · Ana Stosic +12 more

10.1038/s41591-024-03078-4 26 citations

Open Access Journal Article Genes Sep 15, 2022

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

Kimberly Goodspeed · Judy S. Liu · Kimberly L. Nye · Suyash Prasad +5 more

10.3390/genes13091655 17 citations

Open Access Journal Article Neurotherapeutics Apr 01, 2022

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Emrah Gumusgoz · Sahba Kasiri · Dikran R. Guisso · Jun Wu +3 more

10.1007/s13311-022-01218-7 28 citations

Open Access Journal Article EMBO Molecular Medicine Sep 06, 2021

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

Or Kakhlon · Hilla Vaknin · Kumudesh Mishra · Jeevitha D’Souza +18 more

10.15252/emmm.202114554 32 citations

Journal Article Nature Reviews Neurology Aug 24, 2018

Lafora disease — from pathogenesis to treatment strategies

Felix Nitschke · Saija J. Ahonen · Silvia Nitschke · Sharmistha Mitra +1 more

10.1038/s41582-018-0057-0 143 citations

Open Access Journal Article The American Journal of Human Genetics Nov 01, 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Fadi F. Hamdan · Candace T. Myers · Patrick Cossette · Philippe Lemay +102 more

10.1016/j.ajhg.2017.09.008 424 citations

Publication Timeline

2024

2022

2021

2018

2017

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