Variable pathogenic potentials of mutations located in the desmin alpha-helical domain
Goudeau, Bertrand, Rodrigues-Lima, Fernando, Fischer, Dirk, Casteras-Simon, Monique, Sambuughin, Nyamkhishig, de Visser, Marianne, Laforet, Pascal, Ferrer, Xavier, Chapon, Françoise, Sjöberg, Gunnar, Kostareva, Anna, Sejersen, Thomas, Dalakas, Marinos C., Goldfarb, Lev G., Vicart, Patrick
Published in Human mutation (01.09.2006)
Published in Human mutation (01.09.2006)
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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., Li, Zhenlin, Reimann, Jens, Xue, Zhigang, Rudnik-Schöneborn, Sabine, Zerres, Klaus, van der Ven, Peter F. M., Fürst, Dieter O., Kunz, Wolfram S., Vicart, Patrick
Published in Human molecular genetics (15.03.2003)
Published in Human molecular genetics (15.03.2003)
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Journal Article
Structural and functional analysis of a new desmin variant causing desmin-related myopathy
Goudeau, Bertrand, Dagvadorj, Ayush, Rodrigues-Lima, Fernando, Nédellec, Patrick, Casteras-Simon, Monique, Perret, Emmanuelle, Langlois, Sylvie, Goldfarb, Lev, Vicart, Patrick
Published in Human mutation (01.11.2001)
Published in Human mutation (01.11.2001)
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Journal Article
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies
Bär, Harald, Goudeau, Bertrand, Wälde, Sarah, Casteras-Simon, Monique, Mücke, Norbert, Shatunov, Alexey, Goldberg, Y. Paul, Clarke, Charles, Holton, Janice L., Eymard, Bruno, Katus, Hugo A., Fardeau, Michel, Goldfarb, Lev, Vicart, Patrick, Herrmann, Harald
Published in Human mutation (01.04.2007)
Published in Human mutation (01.04.2007)
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Journal Article
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
Kaminska, Anna, Strelkov, Sergei V, Goudeau, Bertrand, Olivé, Montse, Dagvadorj, Ayush, Fidzianska, Anna, Simon-Casteras, Monique, Shatunov, Alexey, Dalakas, Marinos C, Ferrer, Isidro, Kwiecinski, Hubert, Vicart, Patrick, Goldfarb, Lev G
Published in Human genetics (01.02.2004)
Published in Human genetics (01.02.2004)
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Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal α-helical segment
Dagvadorj, Ayush, Goudeau, Bertrand, Hilton-Jones, David, Blancato, Jan K., Shatunov, Alexey, Simon-Casteras, Monique, Squier, Waney, Nagle, James W., Goldfarb, Lev G., Vicart, Patrick
Published in Muscle & nerve (01.06.2003)
Published in Muscle & nerve (01.06.2003)
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Siderophore-mediated iron uptake in Saccharomyces cerevisiae: the SIT1 gene encodes a ferrioxamine B permease that belongs to the major facilitator superfamily
Lesuisse, E, Simon-Casteras, M, Labbe, P
Published in Microbiology (Society for General Microbiology) (01.12.1998)
Published in Microbiology (Society for General Microbiology) (01.12.1998)
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Journal Article
Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
Dalakas, Marinos C., Dagvadorj, Ayush, Goudeau, Bertrand, Park, Kye-Yoon, Takeda, Kazuyo, Simon-Casteras, Monique, Vasconcelos, Olavo, Sambuughin, Nyamkhishig, Shatunov, Alexey, Nagle, James W., Sivakumar, Kumaraswamy, Vicart, Patrick, Goldfarb, Lev G.
Published in Neuromuscular disorders : NMD (01.03.2003)
Published in Neuromuscular disorders : NMD (01.03.2003)
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Journal Article
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., Li, Zhenlin, Reimann, Jens, Xue, Zhigang, Rudnik-Schöneborn, Sabine, Zerres, Klaus, van der Ven, Peter F. M., Fürst, Dieter O., Kunz, Wolfram S., Vicart, Patrick
Published in Human molecular genetics (01.12.2007)
Published in Human molecular genetics (01.12.2007)
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Journal Article
Structural and functional analysis of a new desmin variant causing desmin-related myopathy: DES Variant in Desmin-Related Myopathy
Goudeau, Bertrand, Dagvadorj, Ayush, Rodrigues-Lima, Fernando, Nédellec, Patrick, Casteras-Simon, Monique, Perret, Emmanuelle, Langlois, Sylvie, Goldfarb, Lev, Vicart, Patrick
Published in Human mutation (01.11.2001)
Published in Human mutation (01.11.2001)
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Journal Article
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
KAMINSKA, Anna, STRELKOV, Sergei V, KWIECINSKI, Hubert, VICART, Patrick, GOLDFARB, Lev G, GOUDEAU, Bertrand, OLIVE, Montse, DAGVADORJ, Ayush, FIDZIANSKA, Anna, SIMON-CASTERAS, Monique, SHATUNOV, Alexey, DALAKAS, Marinos C, FERRER, Isidro
Published in Human genetics (2004)
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Published in Human genetics (2004)
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