Menu utilisateur

Accès à distance ? S'identifier sur le proxy UCLouvain

Rechercher

Affichage: 1 - 25 sur 27 résultats.

Pages

    • Article de périodique
    Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia
    Wiame, Elsa[UCL] Tyteca, Donatienne[UCL] Pierrot, Nathalie[UCL] Collard, François[UCL] Amyere, Mustapha[UCL] Noël, Gaëtane[UCL] Desmedt, Jonathan[UCL] Nassogne, Marie-Cécile[UCL] Vikkula, Miikka[UCL] Octave, Jean-Noël[UCL] Vincent, Marie-Françoise[UCL] Courtoy, Pierre J.[UCL] Boltshauser, Eugen Van Schaftingen, Emile[UCL] (2010) Biochemical Journal — Vol. 425, no. 1, p. 127-136 (2010)
    • Article de périodique
    Enzymatic repair of amadori products
    Van Schaftingen, Emile[UCL] Collard, François[UCL] Wiame, Elsa[UCL] Veiga da Cunha, Maria[UCL] (2012) Amino Acids — Vol. 42, no. 4, p. 1143-1150 (2012)
    • Thèse
    New pathways for the metabolism of fructosamines and other glycation products in bacteria
    Wiame, Elsa[UCL] (2005)
    • Article de périodique
    Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
    Dimitriou, Christos Saliba, Souha Peyrassol, Xavier Ben Abbou, Wafa Nassogne, Marie-Cécile[UCL] Neugroschl, Carine Wiame, Elsa[UCL] De Leener, Anne[UCL] Cassart, Marie (2020) Clinical case reports — Vol. 8, no.6, p. 1010-1014 (2020)
    • Article de périodique
    NAT6 acetylates the N-terminus of different forms of actin.
    Wiame, Elsa[UCL] Tahay, Gaëlle[UCL] Tyteca, Donatienne[UCL] Vertommen, Didier[UCL] Stroobant, Vincent[UCL] Bommer, Guido[UCL] Van Schaftingen, Emile[UCL] (2018) The FEBS journal — Vol. 285, no. 17, p. 3299-3316 (2018)
    • Article de périodique
    NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
    Muffels, Irena J J Wiame, Elsa[UCL] Fuchs, Sabine A Massink, Maarten P G Rehmann, Holger Musch, Jiska L I Van Haaften, Gijs Vertommen, Didier[UCL] Van Schaftingen, Emile[UCL] van Hasselt, Peter M (2021) Brain communications — Vol. 3, no.4, p. fcab256 (2021)
    • Article de périodique
    Identification of a pathway for the utilization of the Amadori product fructoselysine in Escherichia coli.
    Wiame, Elsa[UCL] Delpierre, Ghislain[UCL] Collard, François[UCL] Van Schaftingen, Emile[UCL] (2002) The Journal of biological chemistry — Vol. 277, no. 45, p. 42523-9 (2002)
    • Article de périodique
    3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
    Kraoua, Ichraf Wiame, Elsa[UCL] Kraoua, Lilia Nasrallah, Fehmi Benrhouma, Hanen Rouissi, Aida Turki, Ilhem Chaabouni, Habiba Briand, Gilbert Kaabachi, Naziha Van Schaftingen, Emile[UCL] Gouider-Khouja, Neziha (2013) Neuropediatrics : journal of pediatric neurobiology, neurology and neurosurgery — Vol. 44, no.5, p. 281-285 (2013)
    • Article de périodique
    Fructosamine 3-kinase and other enzymes involved in protein deglycation.
    Van Schaftingen, Emile[UCL] Delpierre, Ghislain Collard, François[UCL] Fortpied, Juliette[UCL] Gemayel, Rita[UCL] Wiame, Elsa[UCL] Veiga da Cunha, Maria[UCL] (2007) Advances in enzyme regulation — Vol. 47, p. 261-9 (2007)
    • Article de périodique
    Fructosamine 3-kinase-related protein and deglycation in human erythrocytes.
    Collard, François[UCL] Wiame, Elsa[UCL] Bergans, Niki Fortpied, Juliette[UCL] Vertommen, Didier[UCL] Vanstapel, Florent Delpierre, Ghislain[UCL] Van Schaftingen, Emile[UCL] (2004) The Biochemical journal — Vol. 382, no. Pt 1, p. 137-43 (2004)
    • Article de périodique
    Fructoselysine 3-epimerase, an enzyme involved in the metabolism of the unusual Amadori compound psicoselysine in Escherichia coli.
    Wiame, Elsa[UCL] Van Schaftingen, Emile[UCL] (2004) The Biochemical journal — Vol. 378, no. Pt 3, p. 1047-1052 (2004)
    • Article de périodique
    Identification of enzymes acting on alpha-glycated amino acids in Bacillus subtilis
    Wiame, Elsa[UCL] Duquenne, Armelle[UCL] Delpierre, Ghislain[UCL] Van Schaftingen, Emile[UCL] (2004) FEBS Letters — Vol. 577, no. 3, p. 469-472 (2004)
    • Article de périodique
    Identification of glucoselysine-6-phosphate deglycase, an enzyme involved in the metabolism of the fructation product glucoselysine.
    Wiame, Elsa[UCL] Lamosa, Pedro Santos, Helena Van Schaftingen, Emile[UCL] (2005) Biochemical Journal — Vol. 392, no. Pt 2, p. 263-269 (2005)
    • Article de périodique
    Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
    Paquay, Stéphanie[UCL] Wiame, Elsa[UCL] Deggouj, Naima[UCL] Boschi, Antonella[UCL] De Siati, Romolo Daniele[UCL] Sznajer, Yves[UCL] Nassogne, Marie-Cécile[UCL] (2018) International Journal of Pediatric Otorhinolaryngology — Vol. 104, p. 191-194 (2018)
    • Article de périodique
    C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
    Lausberg, Eva Gießelmann, Sebastian Dewulf, Joseph P.[UCL] Wiame, Elsa[UCL] Holz, Anja Salvarinova, Ramona van Karnebeek, Clara D. Klemm, Patricia Ohl, Kim Mull, Michael Braunschweig, Till Weis, Joachim Sommer, Clemens J. Demuth, Stephanie Haase, Claudia Stollbrink-Peschgens, Claudia Debray, François-Guillaume Libioulle, Cecile Choukair, Daniela Oommen, Prasad T. Borkhardt, Arndt Surowy, Harald Wieczorek, Dagmar Wagner, Norbert Meyer, Robert Eggermann, Thomas Begemann, Matthias Van Schaftingen, Emile[UCL] Häusler, Martin Tenbrock, Klaus van den Heuvel, Lambert Elbracht, Miriam Kurth, Ingo Kraft, Florian (2021) The Journal of clinical investigation — Vol. 131, no. 12, p. e143078 [1-13] (2021)
    • Article de périodique
    Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment.
    Benkirane, Adam[UCL] Warlop, Thibault[UCL] Ivanoiu, Adrian[UCL] Baret, Pierre[UCL] Wiame, Elsa[UCL] Haufroid, Vincent[UCL] Duprez, Thierry[UCL] Hantson, Philippe[UCL] (2022) Frontiers in neurology — Vol. 13, p. 1063803 [1-6] (2022)
    • Article de périodique
    Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
    Maia, Nuno Potelle, Sven[UCL] Yildirim, Hamide Duvet, Sandrine Akula, Shyam K Schulz, Celine Wiame, Elsa[UCL] Gheldof, Alexander O'Kane, Katherine Lai, Abbe Sermon, Karen Proisy, Maïa Loget, Philippe Attié-Bitach, Tania Quelin, Chloé Fortuna, Ana Maria Soares, Ana Rita de Brouwer, Arjan P M Van Schaftingen, Emile[UCL] Nassogne, Marie-Cécile[UCL] Walsh, Christopher A Stouffs, Katrien Jorge, Paula Jansen, Anna C Foulquier, François (2022) American journal of human genetics — Vol. 109, no. 2, p. 345-360 (2022)
    • Article de périodique
    Determinants of the enzymatic activity and the subcellular localization of aspartate N-acetyltransferase
    Tahay, Gaëlle[UCL] Wiame, Elsa[UCL] Tyteca, Donatienne[UCL] Courtoy, Pierre J.[UCL] Van Schaftingen, Emile[UCL] (2012) Biochemical Journal — Vol. 441, no. 1, p. 105-112 (2012)
    • Article de périodique
    A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
    Méneret, Aurélie Wiame, Elsa[UCL] Marelli, Cecilia Lenglet, Timothée Van Schaftingen, Emile[UCL] Sedel, Frédéric (2012) Archives of Neurology — Vol. 69, no.7, p. 908-11 (2012)
    • Article de périodique
    Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
    Hart, Claire E Race, Valerie Achouri, Younes[UCL] Wiame, Elsa[UCL] Sharrard, Mark Olpin, Simon E Watkinson, Jennifer Bonham, James R Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile[UCL] (2007) American journal of human genetics — Vol. 80, no. 5, p. 931-7 (2007)
    • Article de périodique
    SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
    Dewulf, Joseph P.[UCL] Wiame, Elsa[UCL] Dorboz, Imen Elmaleh-Bergès, Monique Imbard, Apolline Dumitriu, Dana Loana[UCL] Rak, Malgorzata Bourillon, Agnès Helaers, Raphaël[UCL] Malla, Alisha Renaldo, Florence Boespflug-Tanguy, Odile Vincent, Marie-Françoise[UCL] Benoist, Jean-François Wevers, Ron A Schlessinger, Avner Van Schaftingen, Emile[UCL] Nassogne, Marie-Cécile[UCL] Schiff, Manuel (2019) Annals of neurology — Vol. 85, no. 3, p. 385-395 (2019)
    • Communication
    Childhood hearing loss is a key feature of CAPOS syndrome : A case report
    Paquay, Stéphanie[UCL] Wiame, Elsa[UCL] Deggouj, Naima[UCL] Boschi, Antonella De Siati, Romolo Daniele[UCL] Sznajer, Yves[UCL] Nassogne, Marie-Cécile[UCL] (2018) Société Française de Neurologie Pédiatrique — Bordeaux
    • Article de périodique
    Unusual association between lysinuric protein intolerance and moyamoya vasculopathy
    Ghilain, Valérie[UCL] Wiame, Elsa[UCL] Fomekong, Edward[UCL] Vincent, Marie-Françoise[UCL] Dumitriu, Dana Loana[UCL] Nassogne, Marie-Cécile[UCL] (2016) European Journal of Paediatric Neurology — Vol. 20, no. 5, p. 777-781 (2016)
    • Article de périodique
    A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
    Gold, Wendy A Sobreira, Nara Wiame, Elsa[UCL] Marbaix, Alexandre[UCL] Van Schaftingen, Emile[UCL] Franzka, Patricia Riley, Lisa G Worgan, Lisa Hübner, Christian A Christodoulou, John Adès, Lesley C (2017) American Journal of Medical Genetics. Part A — Vol. 9999, no.0, p. 1-5 (2017)
    • Article de périodique
    Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.
    Vincent, J B Jamil, T Rafiq, M A Anwar, Z Ayaz, M Hameed, A Nasr, T Naeem, F Khattak, N A Carter, M Ahmed, I John, P Wiame, Elsa[UCL] Andrade, D M Van Schaftingen, Emile[UCL] Mir, A Ayub, M (2015) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 87, no.3, p. 296-298 (2015)

Pages