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Roman Chrast
Roman Chrast
epfl.ch üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
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
2932011
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
2752001
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
2412003
Oligodendroglial myelination requires astrocyte-derived lipids
N Camargo, A Goudriaan, ALF van Deijk, WM Otte, JF Brouwers, ...
PLoS biology 15 (5), e1002605, 2017
2252017
Local regulation of fat metabolism in peripheral nerves
MHG Verheijen, R Chrast, P Burrola, G Lemke
Genes & development 17 (19), 2450-2464, 2003
2102003
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
2002015
Novel pathogenic pathways in diabetic neuropathy
J Zenker, D Ziegler, R Chrast
Trends in neurosciences 36 (8), 439-449, 2013
1732013
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
1692015
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
1692008
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
1362000
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
1332010
PPARγ in placental angiogenesis
K Nadra, L Quignodon, C Sardella, E Joye, A Mucciolo, R Chrast, ...
Endocrinology 151 (10), 4969-4981, 2010
1292010
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
1272016
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
1272009
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
1252015
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
1212000
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
1192009
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
1032018
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
972010
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
942015
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