The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Rouzier, Cécile, Bannwarth, Sylvie, Chaussenot, Annabelle, Chevrollier, Arnaud, Verschueren, Annie, Bonello-Palot, Nathalie, Fragaki, Konstantina, Cano, Aline, Pouget, Jean, Pellissier, Jean-François, Procaccio, Vincent, Chabrol, Brigitte, Paquis-Flucklinger, Véronique
Published in Brain (London, England : 1878) (01.01.2012)
Published in Brain (London, England : 1878) (01.01.2012)
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Journal Article
Membrane impedance porometry
Bannwarth, S., Breisig, H., Houben, V., Oberschelp, C., Wessling, M.
Published in Journal of membrane science (2017)
Published in Journal of membrane science (2017)
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Journal Article
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders
Chaussenot, A., Rouzier, C., Quere, M., Plutino, M., Ait-El-Mkadem, S., Bannwarth, S., Barth, M., Dollfus, H., Charles, P., Nicolino, M., Chabrol, B., Vialettes, B., Paquis-Flucklinger, V.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
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Journal Article
Online monitoring of transient L/L phase separation using locally resolved impedance measurements
Bednarz, A., Schmidt, M., Bannwarth, S., Wessling, M., Jupke, A.
Published in Chemical engineering research & design (01.11.2016)
Published in Chemical engineering research & design (01.11.2016)
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Journal Article
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency
Kaphan, E., Bou Ali, H., Gastaldi, M., Acquaviva, C., Vianey-Saban, C., Rouzier, C., Fragaki, K., Bannwarth, S., Paquis-Flucklinger, V., Romero, N., Behin, A., Lombès, A., Jardel, C., Rigal, O., Laforêt, P.
Published in Revue neurologique (01.12.2018)
Published in Revue neurologique (01.12.2018)
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Journal Article
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
Rouzier, C, Le Guédard-Méreuze, S, Fragaki, K, Serre, V, Miro, J, Tuffery-Giraud, S, Chaussenot, A, Bannwarth, S, Caruba, C, Ostergaard, E, Pellissier, J-F, Richelme, C, Espil, C, Chabrol, B, Paquis-Flucklinger, V
Published in Journal of medical genetics (01.10.2010)
Published in Journal of medical genetics (01.10.2010)
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Journal Article
A novel homozygous MMP2 mutation in a family with Winchester syndrome
Rouzier, C, Vanatka, R, Bannwarth, S, Philip, N, Coussement, A, Paquis-Flucklinger, V, Lambert, J-C
Published in Clinical genetics (01.03.2006)
Published in Clinical genetics (01.03.2006)
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Journal Article
Cell-specific Regulation of TRBP1 Promoter by NF-Y Transcription Factor in Lymphocytes and Astrocytes
Bannwarth, Sylvie, Lainé, Sébastien, Daher, Aïcha, Grandvaux, Nathalie, Clerzius, Guerline, LeBlanc, Andréa C., Hiscott, John, Gatignol, Anne
Published in Journal of molecular biology (03.02.2006)
Published in Journal of molecular biology (03.02.2006)
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Journal Article
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy
Bannwarth, S, Procaccio, V, Rouzier, C, Fragaki, K, Poole, J, Chabrol, B, Desnuelle, C, Pouget, J, Azulay, J P, Attarian, S, Pellissier, J F, Gargus, J J, Abdenur, J E, Mozaffar, T, Calvas, P, Labauge, P, Pages, M, Wallace, D C, Lambert, J C, Paquis-Flucklinger, V
Published in Mitochondrion (01.03.2008)
Published in Mitochondrion (01.03.2008)
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Journal Article
Erfassung des Koaleszenz- und Sedimentationsverhaltens von trüben Systemen in einer standardisierten Absetzzelle
Bednarz, A., Schmidt, M., Eggert, A., Bannwarth, S., Wessling, M., Jupke, A.
Published in Chemie ingenieur technik (01.09.2016)
Published in Chemie ingenieur technik (01.09.2016)
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Journal Article
DNA extraction by FTA™ technology: application for rapid detection of 1p/19q deletions in gliomas
Fontaine, D., Monnot, S., Vandenbos, F., Paquis, P., Michiels, J.-F., Bannwarth, S., Paquis-Flucklinger, V.
Published in Neuropathology and applied neurobiology (01.06.2007)
Published in Neuropathology and applied neurobiology (01.06.2007)
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Journal Article
Altered sialylation of alveolar macrophages in HIV‐1‐infected individuals
PERRIN, C., GIORDANENGO, V., BANNWARTH, S., BLAIVE, B., LEFEBVRE, J.‐C.
Published in Clinical and experimental immunology (29.10.2003)
Published in Clinical and experimental immunology (29.10.2003)
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Journal Article
P203 Association diabète et surdité secondaire à une nouvelle mutation instable
Abbassi, M, Bannwarth, S, Fragaki, K, Augé, G, René, V, Vialettes, B, Paquis-Flucklinger, V
Published in Diabetes & metabolism (2010)
Published in Diabetes & metabolism (2010)
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Journal Article
O11 La cartographie des SNP du gène WFS1 révèle son rôle dans le diabète de type 2 associé à une surdité neurosensorielle dans la population française
Ait El Mkadem, S, Bannwarth, S, Attaoua, R, Grigorescu, F, Dubois, N, Mutz, S, Chafino, B, Vialettes, B, Paquis-Flucklinger, V
Published in Diabetes & metabolism (2010)
Published in Diabetes & metabolism (2010)
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Journal Article
Erfassung des Koaleszenz‐ und Sedimentationsverhaltens von trüben Systemen in einer standardisierten Absetzzelle
Bednarz, A., Schmidt, M., Eggert, A., Bannwarth, S., Wessling, M., Jupke, A.
Published in Chemie ingenieur technik (01.09.2016)
Published in Chemie ingenieur technik (01.09.2016)
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Journal Article