Rita-Eva Varga

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

Rita-Eva Varga, Mukhran Khundadze, Sándor Nietzsche et al. · PLoS Genetics · 2015 · 128 citations · Full text

Cell Autophagy, Lysosome Depletion, Developmental Biology +14

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Christian Beetz, Adam Johnson, Amber L. Schuh et al. · Proceedings of the National Academy of Sciences · 2013 · 103 citations · Full text

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

Christian Beetz, Thomas R. Pieber, Nicole Hertel et al. · The American Journal of Human Genetics · 2012 · 87 citations · Full text

Neurodegenerative Diseases, Splice-site Alteration, Mendelian Disorder +13

Urinary Tract Effects of HPSE2 Mutations

Helen M. Stuart, Neil Roberts, Emma Hilton et al. · Journal of the American Society of Nephrology · 2014 · 47 citations · Full text

Genome Instability, Protein Function, Developmental Biology +14

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

Mukhran Khundadze, Federico Ribaudo, Adeela Hussain et al. · Autophagy · 2021 · 32 citations · Full text