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8 results for author:"Ceballos-Picot I." in Literature citations

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Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Sampat R., Fu R., Larovere L.E., Torres R.J., Ceballos-Picot I., Fischbach M., de Kremer R., Schretlen D.J., Puig J.G., Jinnah H.A.

Hum. Genet. 129:71-78(2011) · Mapped (2)

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.

Ceballos-Picot I., Mockel L., Potier M.C., Dauphinot L., Shirley T.L., Torero-Ibad R., Fuchs J., Jinnah H.A.

Hum. Mol. Genet. 18:2317-2327(2009) · Mapped (5)

Consequences of impaired purine recycling in dopaminergic neurons.

Lewers J.C., Ceballos-Picot I., Shirley T.L., Mockel L., Egami K., Jinnah H.A.

Neuroscience 152:761-772(2008) · Mapped (3)

Examination of stress-related genes in human temporal versus occipital cortex in the course of neurodegeneration: involvement of 14-3-3 zeta in this dynamic process.

Soulie C., Nicole A., Delacourte A., Ceballos-Picot I.

Neurosci. Lett. 365:1-5(2004) · Mapped (7)

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

Edery P., Chabrier S., Ceballos-Picot I., Marie S., Vincent M.-F., Tardieu M.

Am. J. Med. Genet. A 120:185-190(2003) · UniProtKB (1) · Mapped (5)

Overproduction of Cu/Zn-superoxide dismutase or Bcl-2 prevents the brain mitochondrial respiratory dysfunction induced by glutathione depletion.

Merad-Saidoune M., Boitier E., Nicole A., Marsac C., Martinou J.C., Sola B., Sinet P.M., Ceballos-Picot I.

Exp. Neurol. 158:428-436(1999) · Mapped (5)

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

Liu G., Aral B., Zabot M.-T., Kamoun P., Ceballos-Picot I.

Hum. Mutat. Suppl. 1:S88-S90(1998) · UniProtKB (1)

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

Pramatarova A., Figlewicz D.A., Krizus A., Han F.Y., Ceballos-Picot I., Nicole A., Dib M., Meininger V., Brown R.H. Jr., Rouleau G.A.

Am. J. Hum. Genet. 56:592-596(1995) · UniProtKB (1)

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