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Free sialic acid storage disease without sialuria.
Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624.
Ann Neurol. 2009.
PMID: 19557856
Free PMC article.
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA.
Mochel F, et al. Among authors: barritault j.
Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19.
Brain. 2009.
PMID: 19153153
Free PMC article.
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Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
Mochel F, Engelke UF, Barritault J, Yang B, McNeill NH, Thompson JN, Vanderver A, Wolf NI, Willemsen MA, Verheijen FW, Seguin F, Wevers RA, Schiffmann R.
Mochel F, et al. Among authors: barritault j.
Neurology. 2010 Jan 26;74(4):302-5. doi: 10.1212/WNL.0b013e3181cbcdc4.
Neurology. 2010.
PMID: 20101035
Free PMC article.
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Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.
Mochel F, Boildieu N, Barritault J, Sarret C, Eymard-Pierre E, Seguin F, Schiffmann R, Boespflug-Tanguy O.
Mochel F, et al. Among authors: barritault j.
Biochim Biophys Acta. 2010 Nov;1802(11):1112-7. doi: 10.1016/j.bbadis.2010.07.005. Epub 2010 Jul 13.
Biochim Biophys Acta. 2010.
PMID: 20637281
Free PMC article.
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[Contribution of in vitro NMR spectroscopy to metabolic and neurodegenerative disorders].
Mochel F, Barritault J, Boldieu N, Eugène M, Sedel F, Durr A, Seguin F.
Mochel F, et al. Among authors: barritault j.
Rev Neurol (Paris). 2007 Oct;163(10):960-5. doi: 10.1016/s0035-3787(07)92640-5.
Rev Neurol (Paris). 2007.
PMID: 18033033
Review.
French.
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Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.
Mochel F, Charles P, Seguin F, Barritault J, Coussieu C, Perin L, Le Bouc Y, Gervais C, Carcelain G, Vassault A, Feingold J, Rabier D, Durr A.
Mochel F, et al. Among authors: barritault j.
PLoS One. 2007 Jul 25;2(7):e647. doi: 10.1371/journal.pone.0000647.
PLoS One. 2007.
PMID: 17653274
Free PMC article.
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