Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 11259 | 2021 |
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease A Bender, KJ Krishnan, CM Morris, GA Taylor, AK Reeve, RH Perry, ... Nature genetics 38 (5), 515-517, 2006 | 1836 | 2006 |
Genome-wide, large-scale production of mutant mice by ENU mutagenesis MH de Angelis, H Flaswinkel, H Fuchs, B Rathkolb, D Soewarto, ... Nature genetics 25 (4), 444-447, 2000 | 810 | 2000 |
A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice W Enard, S Gehre, K Hammerschmidt, SM Hölter, T Blass, M Somel, ... Cell 137 (5), 961-971, 2009 | 706 | 2009 |
Aberrant methylation of t RNA s links cellular stress to neuro‐developmental disorders S Blanco, S Dietmann, JV Flores, S Hussain, C Kutter, P Humphreys, ... The EMBO journal 33 (18), 2020-2039, 2014 | 594 | 2014 |
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy T Klopstock, P Yu-Wai-Man, K Dimitriadis, J Rouleau, S Heck, M Bailie, ... Brain 134 (9), 2677-2686, 2011 | 589 | 2011 |
Post-stroke inhibition of induced NADPH oxidase type 4 prevents oxidative stress and neurodegeneration C Kleinschnitz, H Grund, K Wingler, ME Armitage, E Jones, M Mittal, ... PLoS biology 8 (9), e1000479, 2010 | 518 | 2010 |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola, E Lamantea, ... Brain 129 (7), 1674-1684, 2006 | 461 | 2006 |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders JR Lemke, E Riesch, T Scheurenbrand, M Schubach, C Wilhelm, I Steiner, ... Epilepsia 53 (8), 1387-1398, 2012 | 413 | 2012 |
Rapamycin extends murine lifespan but has limited effects on aging F Neff, D Flores-Dominguez, DP Ryan, M Horsch, S Schröder, T Adler, ... The Journal of clinical investigation 123 (8), 3272-3291, 2013 | 412 | 2013 |
Gene–environment interactions in Leber hereditary optic neuropathy MA Kirkman, P Yu-Wai-Man, A Korsten, M Leonhardt, K Dimitriadis, ... Brain 132 (9), 2317-2326, 2009 | 410 | 2009 |
Neuron-glia communication via EphA4/ephrin-A3 modulates LTP through glial glutamate transport A Filosa, S Paixão, SD Honsek, MA Carmona, L Becker, B Feddersen, ... Nature neuroscience 12 (10), 1285-1292, 2009 | 349 | 2009 |
The Spastic Paraplegia Rating Scale (SPRS) a reliable and valid measure of disease severity R Schule, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, ... Neurology 67 (3), 430-434, 2006 | 311 | 2006 |
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ... Nature genetics 41 (6), 654-656, 2009 | 297 | 2009 |
Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients R Schüle, S Wiethoff, P Martus, KN Karle, S Otto, S Klebe, S Klimpe, ... Annals of neurology 79 (4), 646-658, 2016 | 288 | 2016 |
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation MB Hartig, A Iuso, T Haack, T Kmiec, E Jurkiewicz, K Heim, S Roeber, ... The American Journal of Human Genetics 89 (4), 543-550, 2011 | 286 | 2011 |
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ... Nature genetics 45 (2), 214-219, 2013 | 267 | 2013 |
Prevalence of sexual dimorphism in mammalian phenotypic traits NA Karp, J Mason, AL Beaudet, Y Benjamini, L Bower, RE Braun, ... Nature communications 8 (1), 15475, 2017 | 258 | 2017 |
Creatine supplementation in Parkinson disease: a placebo-controlled randomized pilot trial A Bender, W Koch, M Elstner, Y Schombacher, J Bender, M Moeschl, ... Neurology 67 (7), 1262-1264, 2006 | 241 | 2006 |
International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy V Carelli, M Carbonelli, IF De Coo, A Kawasaki, T Klopstock, WA Lagrèze, ... Journal of Neuro-Ophthalmology 37 (4), 371-381, 2017 | 237 | 2017 |