Zobrazeno 1 - 10
of 175
pro vyhledávání: '"Merle Ruberg"'
Autor:
Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg, Bernard Brugg, Jocelyn Laporte, Anne Baron-Van Evercooren, Eric LeGuern
Publikováno v:
Neurobiology of Disease, Vol 26, Iss 2, Pp 323-331 (2007)
Loss of function of the myotubularin (MTM)-related protein 2 (MTMR2) in Schwann cells causes Charcot–Marie–Tooth disease type 4B1, a severe demyelinating neuropathy, but the consequences of MTMR2 disruption in Schwann cells are unknown. We establ
Externí odkaz:
https://doaj.org/article/4d36a824fe524064bd550190137f1433
Autor:
Wen-Jie Gu, Olga Corti, Francisco Araujo, Cornelia Hampe, Sandrine Jacquier, Christoph B Lücking, Nacer Abbas, Charles Duyckaerts, Thomas Rooney, Laurent Pradier, Merle Ruberg, Alexis Brice
Publikováno v:
Neurobiology of Disease, Vol 14, Iss 3, Pp 357-364 (2003)
Mutations in the parkin gene are responsible for autosomal recessive parkinsonism. The disease-linked missense mutations are highly concentrated in the RING–IBR–RING domains of Parkin. In this study, we investigated the consequences of several mi
Externí odkaz:
https://doaj.org/article/e384570854344d029f9efd7f387cef11
Autor:
Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern
Publikováno v:
PLoS Genetics, Vol 5, Iss 4 (2009)
Externí odkaz:
https://doaj.org/article/bf99c0b4df104575bba5249701bd0891
Autor:
Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern
Publikováno v:
PLoS Genetics, Vol 5, Iss 2, p e1000381 (2009)
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for muta
Externí odkaz:
https://doaj.org/article/52ce24a9ee0b49af8cbd891f439e0e75
Autor:
Gilles David, Paola Giunti, Géraldine Cancel, Nacer Abbas, Alexandra Durr, Merle Ruberg, Charles Duyckaerts, Monica Holmberg, Jean-Louis Mandel, Giovanni Stevanin, Alexis Brice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f724e43e176079676bf05ee47285853
https://doi.org/10.1201/9781003076933-10
https://doi.org/10.1201/9781003076933-10
Autor:
Annie Sittler, Sandro Alves, Alexis Brice, Martine Barkats, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Alexandre Janer, Christelle Tesson, Darren P. Baker, Morwena Latouche, Merle Ruberg, Martina Marinello, Giovanni Stevanin, Khalid Hamid El Hachimi, Alice Chort
Publikováno v:
Brain. 136:1732-1745
We showed previously, in a cell model of spinocerebellar ataxia 7, that interferon beta induces the expression of PML protein and the formation of PML protein nuclear bodies that degrade mutant ataxin 7, suggesting that the cytokine, used to treat mu
Autor:
Martina Marinello, Giovanni Stevanin, Khalid Hamid El Hachimi, Annie Sittler, Merle Ruberg, Martine Barkats, Alexis Brice, Maria-Grazia Biferi, Sandro Alves, Thibaut Marais, Nathalie Cartier, Denis Furling
Publikováno v:
Molecular Neurodegeneration
Molecular Neurodegeneration, 2016, 11, pp.58. ⟨10.1186/s13024-016-0123-2⟩
Molecular Neurodegeneration, BioMed Central, 2016, 11, pp.58. ⟨10.1186/s13024-016-0123-2⟩
Molecular Neurodegeneration, 2016, 11, pp.58. ⟨10.1186/s13024-016-0123-2⟩
Molecular Neurodegeneration, BioMed Central, 2016, 11, pp.58. ⟨10.1186/s13024-016-0123-2⟩
Background We used lentiviral vectors (LVs) to generate a new SCA7 animal model overexpressing a truncated mutant ataxin-7 (MUT ATXN7) fragment in the mouse cerebellum, in order to characterize the specific neuropathological and behavioral consequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::204f837e2215530a23517f3b46759167
https://hal.sorbonne-universite.fr/hal-01371536
https://hal.sorbonne-universite.fr/hal-01371536
Autor:
Günter U. Höglinger, Matthias Höllerhage, Merle Ruberg, Andreas Matusch, Pierre Champy, Anne Lombès, Wolfgang H. Oertel
Publikováno v:
Experimental Neurology. 220:133-142
Annonacin, a natural lipophilic inhibitor of mitochondrial complex I has been implicated in the etiology of a sporadic neurodegenerative tauopathy in Guadeloupe. We therefore studied further compounds representing the broad biochemical spectrum of co
Autor:
Merle Ruberg, Annie Gervais, Marie-Paule Muriel, Aurélien Dauphin, Michito Namekawa, Alexis Brice
Publikováno v:
Journal of Neurochemistry. 110:1607-1616
We examined the effects of wild-type and mutant atlastin-1 on vesicle transport in the endoplasmic reticulum (ER)-Golgi interface and vesicle budding from ER-derived microsomes using the temperature-sensitive reporter vesicular stomatitis virus glyco
Autor:
Jörg Magerkurth, Ulrich Pilatus, Susanne Knake, Karla Eggert, Günter U. Höglinger, Carmen Schade-Brittinger, Merle Ruberg, Alexander Reuss, Maria Stamelou, Wolfgang H. Oertel
Publikováno v:
Journal of Cerebral Blood Flow & Metabolism. 29:861-870
Indirect evidence from laboratory studies suggests that mitochondrial energy metabolism is impaired in progressive supranuclear palsy (PSP), but brain energy metabolism has not yet been studied directly in vivo in a comprehensive manner in patients.