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pro vyhledávání: '"Estelle Arnaud"'
Akademický článek
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Akademický článek
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Autor:
Claudia Stendel, Radoslaw M. Sobota, Andreas Roos, Estelle Arnaud, David W. Litchfield, Bernhard Lüscher, Henning Kleine, Jennifer Zenker, Páris N. M. Sidiropoulos, Roman Chrast, Fanny Schüpfer, Ute Lehmann, Murat Özçelik, Jan Senderek, Ueli Suter
Publikováno v:
Brain: A Journal of Neurology, 133
Brain : a journal of neurology
Biochemistry Publications
Brain, vol. 133, no. 8, pp. 2462-2474
Brain : a journal of neurology
Biochemistry Publications
Brain, vol. 133, no. 8, pp. 2462-2474
Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination. SH3TC2 expression is restricted to Schwann cells in the peripheral nervous system, and the gene pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e22e3fcf3a69b14aa4a7add768dacf70
http://doc.rero.ch/record/298569/files/awq168.pdf
http://doc.rero.ch/record/298569/files/awq168.pdf
Autor:
Jean-Jacques Médard, Jacques S. Beckmann, Roman Chrast, Carmen Espinós, Vincenzo Lupo, Luca Bartesaghi, Jan Senderek, Eduardo Calpena, Fabienne Maurer, Fanny Schüpfer, Francesc Palau, Estelle Arnaud Gouttenoire
Publikováno v:
Glia. 61:1041-1051
Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral axons. In line with the early onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53b4f3dfcbbb89f7cd984489ebfb74f7
https://doi.org/10.1002/glia.22493
https://doi.org/10.1002/glia.22493
Autor:
David R. Thorburn, Belinda Phipson, Chelsee A. Hewitt, Albert Sickmann, Matthew McKenzie, Estelle Arnaud, James Pitt, William R. Heath, Adrienne Laskowski, René P. Zahedi, Michael T. Ryan, Roman Chrast, Anne K. Voss, Sarah Kinkel, Dillon W. Leong, Gayle M. Davey, Jasper C. Komen, Hamish S. Scott, Melanie Bahlo, Gordon K. Smyth
Publikováno v:
Journal of Biological Chemistry. 287:20652-20663
usc Eukaryotic cells generate energy in the form of ATP, through a network of mitochondrial complexes and electron carriers known as the oxidative phosphorylation system. In mammals, mitochondrial complex I (CI) is the largest component of this syste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26721d1f6dbb61f126c176e12b868b1
https://doi.org/10.1074/jbc.m111.327601
https://doi.org/10.1074/jbc.m111.327601
Autor:
Jean-Jacques Médard, Catherine Lacroix, Roman Chrast, Thierry Kuntzer, Olivier Poirot, Anne Sophie de Preux Charles, Jennifer Zenker, Estelle Arnaud
Publikováno v:
Journal of Neuroscience, vol. 32, no. 22, pp. 7493-7498
The Journal of neuroscience : the official journal of the Society for Neuroscience
The Journal of neuroscience : the official journal of the Society for Neuroscience
Peripheral nerve hyperexcitability (PNH) is one of the distal peripheral neuropathy phenotypes often present in patients affected by type 2 diabetes mellitus (T2DM). Throughin vivoandex vivoelectrophysiological recordings in db/db mice, a model of T2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f84b128502bb78f42f17e81d4e598a4
https://doi.org/10.1523/jneurosci.0719-12.2012
https://doi.org/10.1523/jneurosci.0719-12.2012
Autor:
Claudia Stendel, Nicolas Tricaud, Roman Chrast, Bernhard Lüscher, Estelle Arnaud, Ueli Suter, Jennifer Zenker, Anne-Sophie de Preux Charles, Henning Kleine, Jean-Jacques Médard, Jan Senderek, Joachim Weis, Andreas Roos
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Charcot–Marie–Tooth disease type 4C (CMT4C) is an early-onset, autosomal recessive form of demyelinating neuropathy. The clinical manifestations include progressive scoliosis, delayed age of walking, muscular atrophy, distal weakness, and reduced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6b47a1d9fc6f9f5040216c9b2b3e0c5
https://doi.org/10.1073/pnas.0905523106
https://doi.org/10.1073/pnas.0905523106
Autor:
Roman Chrast, Luca Bartesaghi, Jean-Jacques Médard, Sven Bergmann, Andrea Prunotto, Estelle Arnaud Gouttenoire
Publikováno v:
The European journal of neuroscience. 42(2)
In order to identify new regulators of Schwann cell myelination potentially playing a role in peripheral nervous system (PNS) pathologies, we analysed gene expression profiling data from three mouse models of demyelinating neuropathies and from the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e030a9989efce82d5caf090bb77408e0
https://pubmed.ncbi.nlm.nih.gov/25899854
https://pubmed.ncbi.nlm.nih.gov/25899854
Autor:
Gérard Said, Alexandra C. Title, Andreas Roos, Claudia Stendel, Odile Dubourg, Jean-Jacques Médard, Edward Makowski, Nuno Pinto, Eric LeGuern, Roman Chrast, Kristl G. Claeys, Carlo Rivolta, Anthony A. Amato, Luca Bartesaghi, Jay M. Baraban, Romain Cartoni, José Leal Loureiro, Hamid Azzedine, Nathalie Bernard-Marissal, Olivier Poirot, Petra Zavadakova, Ludger Schöls, Giovanni Stevanin, Maria Vaz Pato, Estelle Arnaud Gouttenoire, Giulia Venturini, Jennifer Zenker, Violaine Planté-Bordeneuve, Joachim Weis, Jan Senderek
Publikováno v:
Human molecular genetics
Human Molecular Genetics, vol. 22, no. 20, pp. 4224-4232
Human Molecular Genetics, vol. 22, no. 20, pp. 4224-4232
Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::054554f19364b351886c52d992518348
https://pubmed.ncbi.nlm.nih.gov/23777631
https://pubmed.ncbi.nlm.nih.gov/23777631
Autor:
Estelle Arnaud, Gouttenoire, Vincenzo, Lupo, Eduardo, Calpena, Luca, Bartesaghi, Fanny, Schüpfer, Jean-Jacques, Médard, Fabienne, Maurer, Jacques S, Beckmann, Jan, Senderek, Francesc, Palau, Carmen, Espinós, Roman, Chrast
Publikováno v:
Glia. 61(7)
Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral axons. In line with the early onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dadbeca9414394f1656a48b86d86214c
https://pubmed.ncbi.nlm.nih.gov/23553667
https://pubmed.ncbi.nlm.nih.gov/23553667