Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Autor: Steel, D., Zech, M., Zhao, C., Barwick, K.E.S., Burke, D., Demailly, D., Kumar, K.R., Zorzi, G., Nardocci, N., Kaiyrzhanov, R., Wagner, M., Iuso, A., Berutti, R., Škorvánek, M., Necpál, J., Davis, R., Wiethoff, S., Mankad, K., Sudhakar, S., Ferrini, A., Sharma, S., Kamsteeg, E.J., Tijssen, Marina A. J., Verschuuren, C., Egmond, M.E. van, Flowers, J.M., McEntagart, M., Tucci, A., Coubes, P., Bustos, B.I., Gonzalez-Latapi, P., Tisch, S., Darveniza, P., Gorman, K.M., Peall, K.J., Bötzel, K., Koch, J.C., Kmieć, T., Plecko, B., Boesch, S., Haslinger, B., Jech, R., Garavaglia, B., Wood, N., Houlden, H., Gissen, P., Lubbe, S.J., Sue, C.M., Cif, L., Mencacci, N.E., Anderson, G., Kurian, M.A., Winkelmann, J.

Publikováno v: Annals of Neurology, 88, 867-877
Annals of Neurology, 88, 5, pp. 867-877

Contains fulltext : 229267.pdf (Publisher’s version ) (Open Access) OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1e521d000fa972c1be00221ef6d1e696
https://hdl.handle.net/2066/229267

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke

Autor: Demailly, D., Vianey-Saban, Christine, Acquaviva, C., Gonzalez, V., Rubio, I. D., Cyprien, F., Roujeau, T., Masoliver, A., Leboucq, N., Coubes, P., Cif, L.

Publikováno v: Movement Disorders Clinical Practice
Movement Disorders Clinical Practice, 2018, 5 (4), pp.436--438
Movement Disorders Clinical Practice, 2018, 5 (4), pp.436--438. ⟨10.1002/mdc3.12633⟩

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0d6b49ce9a76dba8cd1a1147d9ff75f1
https://hal.archives-ouvertes.fr/hal-02003557

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Differentiation and dynamics of EU ETS industrial competitiveness impacts: Final Report

Autor: Hourcade, Jean Charles, Demailly, D, Neuhoff, K, Sato, S

international; Available at: http://www.climatestrategies.org/component/reports/category/17/37.html

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6be209f936a4fde7a563f7698f9dacf8
https://hal.archives-ouvertes.fr/hal-00991638

CO2 abatement, competitiveness and leakage in the European cement industry under the EU ETS: grandfathering versus output-based allocation

Autor: Demailly, D., Quirion, P.

Publikováno v: Climate Policy
Climate Policy, Taylor & Francis, 2006, 6, pp.93-113
Climate Policy, Taylor & Francis, 2006, 6 (1), pp.93

International audience; A recurring concern raised by the European GHG Emissions Trading Scheme (ETS) is the fear of losses to EU industry through competition: both loss in domestic production and loss in profits. This article analyses how production

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::457b087fe9a7ec6678b0a9ec71d4cca7
https://hal.archives-ouvertes.fr/hal-00119449