Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models R Chrast, G Saher, KA Nave, MHG Verheijen Journal of lipid research 52 (3), 419-434, 2011 | 297 | 2011 |
Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness HS Scott, J Kudoh, M Wattenhofer, K Shibuya, A Berry, R Chrast, ... Nature genetics 27 (1), 59-63, 2001 | 278 | 2001 |
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy J Senderek, C Bergmann, C Stendel, J Kirfel, N Verpoorten, P De Jonghe, ... The American Journal of Human Genetics 73 (5), 1106-1119, 2003 | 244 | 2003 |
Oligodendroglial myelination requires astrocyte-derived lipids N Camargo, A Goudriaan, ALF van Deijk, WM Otte, JF Brouwers, ... PLoS biology 15 (5), e1002605, 2017 | 234 | 2017 |
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration N Bernard-Marissal, JJ Medard, H Azzedine, R Chrast Brain 138 (4), 875-890, 2015 | 210 | 2015 |
Local regulation of fat metabolism in peripheral nerves MHG Verheijen, R Chrast, P Burrola, G Lemke Genes & development 17 (19), 2450-2464, 2003 | 210 | 2003 |
Transcriptional regulator PRDM12 is essential for human pain perception YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ... Nature genetics 47 (7), 803-808, 2015 | 183 | 2015 |
Novel pathogenic pathways in diabetic neuropathy J Zenker, D Ziegler, R Chrast Trends in neurosciences 36 (8), 439-449, 2013 | 176 | 2013 |
Phosphatidic acid mediates demyelination in Lpin1 mutant mice K Nadra, AS de Preux Charles, JJ Médard, WT Hendriks, GS Han, S Grès, ... Genes & development 22 (12), 1647-1661, 2008 | 169 | 2008 |
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 … R Chrast, HS Scott, R Madani, L Huber, DP Wolfer, M Prinz, A Aguzzi, ... Human molecular genetics 9 (12), 1853-1864, 2000 | 136 | 2000 |
Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot–Marie–Tooth neuropathy type 2A R Cartoni, E Arnaud, JJ Medard, O Poirot, DS Courvoisier, R Chrast, ... Brain 133 (5), 1460-1469, 2010 | 134 | 2010 |
PPARγ in placental angiogenesis K Nadra, L Quignodon, C Sardella, E Joye, A Mucciolo, R Chrast, ... Endocrinology 151 (10), 4969-4981, 2010 | 133 | 2010 |
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor H Hor, L Francescatto, L Bartesaghi, S Ortega-Cubero, M Kousi, ... Human molecular genetics 24 (20), 5677-5686, 2015 | 131 | 2015 |
SCAP is required for timely and proper myelin membrane synthesis MHG Verheijen, N Camargo, V Verdier, K Nadra, AS de Preux Charles, ... Proceedings of the National Academy of Sciences 106 (50), 21383-21388, 2009 | 129 | 2009 |
Akt regulates axon wrapping and myelin sheath thickness in the PNS E Domènech-Estévez, H Baloui, X Meng, Y Zhang, K Deinhardt, ... Journal of Neuroscience 36 (16), 4506-4521, 2016 | 127 | 2016 |
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals R Chrast, HS Scott, MP Papasavvas, C Rossier, ES Antonarakis, C Barras, ... Genome Research 10 (12), 2006-2021, 2000 | 122 | 2000 |
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system E Arnaud, J Zenker, AS de Preux Charles, C Stendel, A Roos, JJ Médard, ... Proceedings of the National Academy of Sciences 106 (41), 17528-17533, 2009 | 121 | 2009 |
Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 107 | 2018 |
SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling C Stendel, A Roos, H Kleine, E Arnaud, M Özçelik, PNM Sidiropoulos, ... Brain 133 (8), 2462-2474, 2010 | 99 | 2010 |
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies D Safka Brozkova, T Deconinck, L Beth Griffin, A Ferbert, J Haberlova, ... Brain 138 (8), 2161-2172, 2015 | 98 | 2015 |