A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Ingo Kurth, Hölger Thiele et al.|Nature Genetics|2013Cited by 304
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Christian A. Hübner, Torsten Pamminger et al.|Nature Genetics|2009Cited by 256
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11Rita-Eva Varga, Christian A. Hübner, Mukhran Khundadze et al.|PLoS Genetics|2015Cited by 130
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal SystemMukhran Khundadze, Christian A. Hübner, Katrin Kollmann et al.|PLoS Genetics|2013Cited by 100
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A. Husain, Tobias B. Haack, Mona Grimmel et al.|The American Journal of Human Genetics|2020Cited by 54