Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Julie Barritault"'
Autor:
Fanny Mochel, Perrine Charles, François Seguin, Julie Barritault, Christiane Coussieu, Laurence Perin, Yves Le Bouc, Christiane Gervais, Guislaine Carcelain, Anne Vassault, Josué Feingold, Daniel Rabier, Alexandra Durr
Publikováno v:
PLoS ONE, Vol 2, Iss 7, p e647 (2007)
Huntington disease (HD) is a fatal neurodegenerative disorder, with no effective treatment. The pathogenic mechanisms underlying HD has not been elucidated, but weight loss, associated with chorea and cognitive decline, is a characteristic feature of
Externí odkaz:
https://doaj.org/article/4a446a7ac0c542b48beeeffd9459f875
Autor:
Raphael Schiffmann, Fanny Mochel, Jerry N. Thompson, Frans W. Verheijen, Udo F. H. Engelke, Ron A. Wevers, François Seguin, Nathan McNeill, Adeline Vanderver, Julie Barritault, Michèl A.A.P. Willemsen, Nicole I. Wolf, B. Yang
Publikováno v:
Neurology, 74, 302-5
Neurology, 74, 4, pp. 302-5
Neurology, 74(4), 302-305. Lippincott Williams and Wilkins
Neurology, 74(4), 302-305. Lippincott Williams & Wilkins
Mochel, F, Engelke, U F H, Barritault, J, Yang, B, McNeill, N H, Thompson, J N, Vanderver, A, Wolf, N I, Willemsen, M A, Verheijen, F W, Seguin, F, Wevers, R A & Schiffmann, R 2010, ' Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases ', Neurology, vol. 74, no. 4, pp. 302-305 . https://doi.org/10.1212/WNL.0b013e3181cbcdc4
Neurology, 74, 4, pp. 302-5
Neurology, 74(4), 302-305. Lippincott Williams and Wilkins
Neurology, 74(4), 302-305. Lippincott Williams & Wilkins
Mochel, F, Engelke, U F H, Barritault, J, Yang, B, McNeill, N H, Thompson, J N, Vanderver, A, Wolf, N I, Willemsen, M A, Verheijen, F W, Seguin, F, Wevers, R A & Schiffmann, R 2010, ' Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases ', Neurology, vol. 74, no. 4, pp. 302-305 . https://doi.org/10.1212/WNL.0b013e3181cbcdc4
Mutations in the SLC17A5 gene encoding the lysosomal transporter sialin are associated with the free sialic acid storage diseases (SASD): Salla disease (or the Finnish type of sialuria), the more severe infantile free sialic acid storage disease (ISS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab653ee626b4ebd5aa1e618fab199915
https://doi.org/10.1212/wnl.0b013e3181cbcdc4
https://doi.org/10.1212/wnl.0b013e3181cbcdc4
Autor:
Ron A. Wevers, Christine R. Kaneski, Udo F. H. Engelke, Jiahuan Ding, Julie Barritault, Nathan McNeill, Raphael Schiffmann, Fanny Mochel, Marjan Huizing, Mones Abu-Asab, David R. Adams, François Seguin, Bingzhi Yang, Frans W. Verheijen, William S. Benko, Jerry N. Thompson, Maria Tsokos
Publikováno v:
Annals of Neurology, 65, 6, pp. 753-7
Annals of Neurology, 65, 753-7
Annals of Neurology, 65(6), 753-757. John Wiley & Sons Inc.
Annals of Neurology, 65, 753-7
Annals of Neurology, 65(6), 753-757. John Wiley & Sons Inc.
Contains fulltext : 80646.pdf (Publisher’s version ) (Closed access) We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec13ae7461e98be4f002f7c42730d09
https://doi.org/10.1002/ana.21624
https://doi.org/10.1002/ana.21624
Autor:
M. Eugène, Julie Barritault, François Seguin, N. Boldieu, Frédéric Sedel, Fanny Mochel, Alexandra Durr
Publikováno v:
Revue Neurologique. 163:960-965
In vitro Nuclear Magnetic Resonance (NMR) spectroscopy is a validated biochemical tool for metabolic analyses of human body fluids and diagnosis of inborn errors of metabolism in children and adults. The technique is of special interest because it re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ebc68e5acab28325823a547258bb864
https://doi.org/10.1016/s0035-3787(07)92640-5
https://doi.org/10.1016/s0035-3787(07)92640-5
Autor:
Eleonore Eymard-Pierre, Fanny Mochel, Odile Boespflug-Tanguy, Julie Barritault, François Seguin, Nadège Boildieu, Catherine Sarret, Raphael Schiffmann
Publikováno v:
Biochimica et Biophysica Acta-Molecular Basis of Disease
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2010, 1802 (11), pp.1112. ⟨10.1016/j.bbadis.2010.07.005⟩
Biochimica et Biophysica Acta-Molecular Basis of Disease, 2010, 1802 (11), pp.1112. ⟨10.1016/j.bbadis.2010.07.005⟩
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2010, 1802 (11), pp.1112. ⟨10.1016/j.bbadis.2010.07.005⟩
Biochimica et Biophysica Acta-Molecular Basis of Disease, 2010, 1802 (11), pp.1112. ⟨10.1016/j.bbadis.2010.07.005⟩
Background: In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern. Methods: We used a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::313d72994cc63b4dbbb4ce93e414ecf1
https://hal.archives-ouvertes.fr/hal-00623293
https://hal.archives-ouvertes.fr/hal-00623293
Autor:
Christine Kaneski, Bart W. Smits, B. Kulkarni, Marie T. Vanier, Raphael Schiffmann, Jia-Huan Ding, Udo F. H. Engelke, Marjan Huizing, Alexis Brice, Frans W. Verheijen, David H. Adams, Adeline Vanderver, Alexandra Durr, Ron A. Wevers, Julie Barritault, Frédéric Sedel, François Seguin, F. Clot, B. Yang, Fanny Mochel
Publikováno v:
Brain, 132, 801-809. Oxford University Press
Brain, 132, Pt 3, pp. 801-9
Brain, 132, 801-9
Brain, 132, Pt 3, pp. 801-9
Brain, 132, 801-9
Contains fulltext : 80171.pdf (Publisher’s version ) (Closed access) In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in vitro proton nuclear ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08b7452d5e040cfbe12ef7ea31cff77
https://pure.eur.nl/en/publications/129ab6fb-ad79-4140-bec1-22067e0f6099
https://pure.eur.nl/en/publications/129ab6fb-ad79-4140-bec1-22067e0f6099