SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy M Riessland, B Ackermann, A Förster, M Jakubik, J Hauke, L Garbes, ... Human molecular genetics 19 (8), 1492-1506, 2010 | 263 | 2010 |
PLS3 mutations in X-linked osteoporosis with fractures FS van Dijk, MC Zillikens, D Micha, M Riessland, CLM Marcelis, ... New England Journal of Medicine 369 (16), 1529-1536, 2013 | 231 | 2013 |
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy TM Wishart, CA Mutsaers, M Riessland, MM Reimer, G Hunter, ... The Journal of clinical investigation 124 (4), 1821-1834, 2014 | 211 | 2014 |
Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis M Riessland, A Kaczmarek, S Schneider, KJ Swoboda, H Löhr, C Bradler, ... The American Journal of Human Genetics 100 (2), 297-315, 2017 | 208 | 2017 |
In vitro and ex vivo evaluation of second‐generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy E Hahnen, IY Eyüpoglu, L Brichta, K Haastert, C Tränkle, FA Siebzehnrübl, ... Journal of neurochemistry 98 (1), 193-202, 2006 | 205 | 2006 |
The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype S Hosseinibarkooie, M Peters, L Torres-Benito, RH Rastetter, ... The American Journal of Human Genetics 99 (3), 647-665, 2016 | 203 | 2016 |
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells M Riessland, L Brichta, E Hahnen, B Wirth Human genetics 120, 101-110, 2006 | 180 | 2006 |
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality B Ackermann, S Kröber, L Torres-Benito, A Borgmann, M Peters, ... Human molecular genetics 22 (7), 1328-1347, 2013 | 168 | 2013 |
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone … J Hauke, M Riessland, S Lunke, IY Eyüpoglu, I Blümcke, A El-Osta, ... Human molecular genetics 18 (2), 304-317, 2009 | 164 | 2009 |
Loss of SATB1 induces p21-dependent cellular senescence in post-mitotic dopaminergic neurons M Riessland, B Kolisnyk, TW Kim, J Cheng, J Ni, JA Pearson, EJ Park, ... Cell stem cell 25 (4), 514-530. e8, 2019 | 158 | 2019 |
SMN regulates axonal local translation via miR-183/mTOR pathway MJ Kye, ED Niederst, MH Wertz, ICG Gonçalves, B Akten, KZ Dover, ... Human molecular genetics 23 (23), 6318-6331, 2014 | 158 | 2014 |
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate L Garbes, M Riessland, I Hölker, R Heller, J Hauke, C Tränkle, R Coras, ... Human molecular genetics 18 (19), 3645-3658, 2009 | 145 | 2009 |
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy CA Mutsaers, TM Wishart, DJ Lamont, M Riessland, J Schreml, ... Human molecular genetics 20 (22), 4334-4344, 2011 | 130 | 2011 |
How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches B Wirth, L Garbes, M Riessland Current opinion in genetics & development 23 (3), 330-338, 2013 | 118 | 2013 |
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy M Michaud, T Arnoux, S Bielli, E Durand, Y Rotrou, S Jablonka, F Robert, ... Neurobiology of disease 38 (1), 125-135, 2010 | 93 | 2010 |
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585 J Schreml, M Riessland, M Paterno, L Garbes, K Roßbach, B Ackermann, ... European Journal of Human Genetics 21 (6), 643-652, 2013 | 89 | 2013 |
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis E Janzen, N Mendoza-Ferreira, S Hosseinibarkooie, S Schneider, ... Brain 141 (8), 2343-2361, 2018 | 67 | 2018 |
Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing Y Mende, M Jakubik, M Riessland, F Schoenen, K Roßbach, ... Human molecular genetics 19 (11), 2154-2167, 2010 | 67 | 2010 |
Investigational therapies for the treatment of spinal muscular atrophy A Kaczmarek, S Schneider, B Wirth, M Riessland Expert opinion on investigational drugs 24 (7), 867-881, 2015 | 31 | 2015 |
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function N Mendoza-Ferreira, M Coutelier, E Janzen, S Hosseinibarkooie, H Löhr, ... Neurology: Genetics 4 (1), e209, 2018 | 26 | 2018 |