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2. Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Author

Bogdan, T., Wirth, T., Iosif, A., Schalk, A., Montaut, S., Bonnard, C., Carre, G., Lagha-Boukbiza, O., Reschwein, C., Albugues, E., Demuth, S., Landsberger, H., Einsiedler, M., Parratte, T., Nguyen, A., Lamy, F., Durand, H., Fahrer, P., Voulleminot, P., Bigaut, K., Chanson, J. B., Nicolas, G., Chelly, J., Cazeneuve, C., Koenig, M., Bund, C., Namer, I. J., Kremer, S., Calmels, N., Tranchant, C., and Anheim, M.

Published
2022
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14. Lack of pediatricians in sociomedical units (PASS) in France

Author

Laporte, R., primary, Hadji, K., additional, Schwartz, M., additional, Tardieux, P.M., additional, Bedrani, Z., additional, Piegay, E., additional, Bertini, B., additional, Rambour, V., additional, Auzas, O., additional, Andrey, A., additional, Bertsch, A, additional, Jugie, E., additional, Tranchant, C., additional, and Gentile, S., additional

Published
2022
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15. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Author

Gebus, O., Montaut, S., Monga, B., Wirth, T., Cheraud, C., Alves Do Rego, C., Zinchenko, I., Carré, G., Hamdaoui, M., Hautecloque, G., Nguyen-Them, L., Lannes, B., Chanson, J. B., Lagha-Boukbiza, O., Fleury, M. C., Devys, D., Nicolas, G., Rudolf, G., Bereau, M., Mallaret, M., Renaud, M., Acquaviva, C., Koenig, M., Koob, M., Kremer, S., Namer, I. J., Cazeneuve, C., Echaniz-Laguna, A., Tranchant, C., and Anheim, Mathieu

Published
2017
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18. Étude rétrospective multicentrique de 15 cas adultes de xanthomatose cérébrotendineuse : aspects cliniques et paracliniques typiques et atypiques

Author

Lionnet, C., Carra, C., Ayrignac, X., Levade, T., Gayraud, D., Castelnovo, G., Besson, G., Androdias, G., Vukusic, S., Confavreux, C., Zaenker, C., De Seze, J., Collongues, N., Blanc, F., Tranchant, C., Wallon, D., Hannequin, D., Gerdelat-Mas, A., Brassat, D., Clanet, M., Zephir, H., Outteryck, O., Vermersch, P., and Labauge, P.

Published
2014
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22. Trial of Deferiprone in Parkinson's Disease

Author

Devos, D., Labreuche, J., Rascol, O., Corvol, J.C., Duhamel, A., Delannoy, P. Guyon, Poewe, W., Compta, Y., Pavese, N., Růžička, E., Dušek, P., Post, B., Bloem, B.R., Berg, D., Maetzler, W., Otto, M., Habert, M.O., Lehericy, S., Ferreira, J., Dodel, R., Tranchant, C., Eusebio, A., Thobois, S., Marques, A.R., Meissner, W.G., Ory-Magne, F., Walter, U., Bie, R.M. de, Gago, M., Vilas, D., Kulisevsky, J., Januario, C., Coelho, M.V.S., Behnke, S., Worth, P., Seppi, K., Ouk, T., Potey, C., Leclercq, C., Viard, R., Kuchcinski, G., Lopes, R., Pruvo, J.P., Pigny, P., Garçon, G., Simonin, O., Carpentier, J., Rolland, A.S., Nyholm, D., Scherfler, C., Mangin, J.F., Chupin, M., Bordet, R., Dexter, D.T., Fradette, C., Spino, M., Tricta, F., Ayton, S., Bush, A.I., Devedjian, J.C., Duce, J.A., Cabantchik, I., Defebvre, L., Deplanque, D., Moreau, C., Devos, D., Labreuche, J., Rascol, O., Corvol, J.C., Duhamel, A., Delannoy, P. Guyon, Poewe, W., Compta, Y., Pavese, N., Růžička, E., Dušek, P., Post, B., Bloem, B.R., Berg, D., Maetzler, W., Otto, M., Habert, M.O., Lehericy, S., Ferreira, J., Dodel, R., Tranchant, C., Eusebio, A., Thobois, S., Marques, A.R., Meissner, W.G., Ory-Magne, F., Walter, U., Bie, R.M. de, Gago, M., Vilas, D., Kulisevsky, J., Januario, C., Coelho, M.V.S., Behnke, S., Worth, P., Seppi, K., Ouk, T., Potey, C., Leclercq, C., Viard, R., Kuchcinski, G., Lopes, R., Pruvo, J.P., Pigny, P., Garçon, G., Simonin, O., Carpentier, J., Rolland, A.S., Nyholm, D., Scherfler, C., Mangin, J.F., Chupin, M., Bordet, R., Dexter, D.T., Fradette, C., Spino, M., Tricta, F., Ayton, S., Bush, A.I., Devedjian, J.C., Duce, J.A., Cabantchik, I., Defebvre, L., Deplanque, D., and Moreau, C.

Abstract

Item does not contain fulltext, BACKGROUND: Iron content is increased in the substantia nigra of persons with Parkinson's disease and may contribute to the pathophysiology of the disorder. Early research suggests that the iron chelator deferiprone can reduce nigrostriatal iron content in persons with Parkinson's disease, but its effects on disease progression are unclear. METHODS: We conducted a multicenter, phase 2, randomized, double-blind trial involving participants with newly diagnosed Parkinson's disease who had never received levodopa. Participants were assigned (in a 1:1 ratio) to receive oral deferiprone at a dose of 15 mg per kilogram of body weight twice daily or matched placebo for 36 weeks. Dopaminergic therapy was withheld unless deemed necessary for symptom control. The primary outcome was the change in the total score on the Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS; range, 0 to 260, with higher scores indicating more severe impairment) at 36 weeks. Secondary and exploratory clinical outcomes at up to 40 weeks included measures of motor and nonmotor disability. Brain iron content measured with the use of magnetic resonance imaging was also an exploratory outcome. RESULTS: A total of 372 participants were enrolled; 186 were assigned to receive deferiprone and 186 to receive placebo. Progression of symptoms led to the initiation of dopaminergic therapy in 22.0% of the participants in the deferiprone group and 2.7% of those in the placebo group. The mean MDS-UPDRS total score at baseline was 34.3 in the deferiprone group and 33.2 in the placebo group and increased (worsened) by 15.6 points and 6.3 points, respectively (difference, 9.3 points; 95% confidence interval, 6.3 to 12.2; P<0.001). Nigrostriatal iron content decreased more in the deferiprone group than in the placebo group. The main serious adverse events with deferiprone were agranulocytosis in 2 participants and neutropenia in 3 participants. CONCLUSIONS: In parti

Published
2022

23. Validation of a non-motor fluctuations questionnaire in Parkinson's disease

Author

Faggianelli, F., primary, Loundou, A., additional, Baumstarck, K., additional, Nathalie, S., additional, Auquier, P., additional, Eusebio, A., additional, Defebvre, L., additional, Brefel-Courbon, C., additional, Houeto, J.-L., additional, Maltete, D., additional, Tranchant, C., additional, Derkinderen, P., additional, Geny, C., additional, Krystkowiak, P., additional, Jean-Philippe, B., additional, Macia, F., additional, Durif, F., additional, Poujois, A., additional, Borg, M., additional, Azulay, J.-P., additional, and Witjas, T., additional

Published
2022
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35. Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

Author

Rebelo, A.P., Eidhof, I.J.M., Cintra, V.P., Guillot-Noel, L., Pereira, C.V., Timmann, D., Traschütz, A., Schöls, L., Coarelli, G., Durr, A., Anheim, M., Tranchant, C., Warrenburg, B.P.C. van de, Guissart, C., Koenig, M., Howell, J., Moraes, C.T., Schenck, A., Stevanin, G., Züchner, S., Synofzik, M., Rebelo, A.P., Eidhof, I.J.M., Cintra, V.P., Guillot-Noel, L., Pereira, C.V., Timmann, D., Traschütz, A., Schöls, L., Coarelli, G., Durr, A., Anheim, M., Tranchant, C., Warrenburg, B.P.C. van de, Guissart, C., Koenig, M., Howell, J., Moraes, C.T., Schenck, A., Stevanin, G., Züchner, S., and Synofzik, M.

Abstract

Item does not contain fulltext, Peroxiredoxin 3 (PRDX3) belongs to a superfamily of peroxidases that function as protective antioxidant enzymes. Among the six isoforms (PRDX1-PRDX6), PRDX3 is the only protein exclusively localized to the mitochondria, which are the main source of reactive oxygen species. Excessive levels of reactive oxygen species are harmful to cells, inducing mitochondrial dysfunction, DNA damage, lipid and protein oxidation and ultimately apoptosis. Neuronal cell damage induced by oxidative stress has been associated with numerous neurodegenerative disorders including Alzheimer's and Parkinson's diseases. Leveraging the large aggregation of genomic ataxia datasets from the PREPARE (Preparing for Therapies in Autosomal Recessive Ataxias) network, we identified recessive mutations in PRDX3 as the genetic cause of cerebellar ataxia in five unrelated families, providing further evidence for oxidative stress in the pathogenesis of neurodegeneration. The clinical presentation of individuals with PRDX3 mutations consists of mild-to-moderate progressive cerebellar ataxia with concomitant hyper- and hypokinetic movement disorders, severe early-onset cerebellar atrophy, and in part olivary and brainstem degeneration. Patient fibroblasts showed a lack of PRDX3 protein, resulting in decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity. Moreover, PRDX3 knockdown in cerebellar medulloblastoma cells resulted in significantly decreased cell viability, increased H2O2 levels and increased susceptibility to apoptosis triggered by reactive oxygen species. Pan-neuronal and pan-glial in vivo models of Drosophila revealed aberrant locomotor phenotypes and reduced survival times upon exposure to oxidative stress. Our findings reveal a central role for mitochondria and the implication of oxidative stress in PRDX3 disease pathogenesis and cerebellar vulnerability and suggest targets for future therapeutic approaches.

Published
2021

38. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020)

Author

Roux, T., Barbier, M., Papin, M., Davoine, C.S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Maldergem, L. van, Broeckhoven, C. van, Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., and SPATAX Network

Abstract

A Correction to this paper has been published: https://doi.org/10.1038/s41436-020-01064-y

Published
2020

49. Movement disorders spectrum in adults with ataxia telangiectasia: 137

Author

Grabli, D., Meneret, A., Beaugendre, Y., Gaymard, B., Apartis, E., Tranchant, C., Rivaud, S., Degos, B., Benyahia, B., Suarez, F., Maisonobe, T., Koenig, M., Durr, A., Malhaoui, N., Rieunier, G., Stern, M. H., DʼEnghein, Dubois C., Fischer, A., Vidailhet, M., Stoppa-Lyonnet, D., and Anheim, M.

Published
2014

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