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Affichage: 1 - 25 sur 162 résultats.

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    • Article de périodique
    A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
    Godefroid, Nathalie Riveira-Munoz, Eva[UCL] Saint-Martin, Christine Nassogne, Marie-Cécile[UCL] Dahan, Karin[UCL] Devuyst, Olivier[UCL] (2006) American journal of kidney diseases : the official journal of the National Kidney Foundation — Vol. 48, no. 5, p. e73-9 (2006)
    • Article de périodique
    Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy
    El Kosseifi, Charbel[UCL] Seddiki, Karima Dumitriu, Dana Ioana[UCL] Nassogne, Marie-Cécile[UCL] (2021) Acta Neurologica Belgica — Vol. 121, no. 1, p. 261-263 (2021)
    • Article de périodique
    Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
    Marie, S. Race, V Nassogne, Marie-Cécile[UCL] Vincent, Marie-Françoise[UCL] Van den Berghe, Georges[UCL] (2002) American journal of human genetics — Vol. 71, no. 1, p. 14-21 (2002)
    • Article de périodique
    Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study
    Lagae, Lieven[UCL] Nassogne, Marie-Cécile[UCL] Verhelst, Helene Ceulemans, Berten De Meirleir, Linda De Borchgrave, Valerie D'Hooghe, Marc Foulon, Martine Van Bogaert, Patrick (2010) Seizure - European Journal of Epilepsy — Vol. 19, no. 3, p. 159-64 (2010)
    • Article de périodique
    Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
    Lardelli, Rea M Schaffer, Ashleigh E Eggens, Veerle R C Zaki, Maha S Grainger, Stephanie Sathe, Shashank Van Nostrand, Eric L Schlachetzki, Zinayida Rosti, Basak Akizu, Naiara Scott, Eric Silhavy, Jennifer L Heckman, Laura Dean Rosti, Rasim Ozgur Dikoglu, Esra Gregor, Anne Guemez-Gamboa, Alicia Musaev, Damir Mande, Rohit Widjaja, Ari Shaw, Tim L Markmiller, Sebastian Marin-Valencia, Isaac Davies, Justin H de Meirleir, Linda Kayserili, Hulya Altunoglu, Umut Freckmann, Mary Louise Warwick, Linda Chitayat, David Blaser, Susan Çağlayan, Ahmet Okay Bilguvar, Kaya Per, Huseyin Fagerberg, Christina Christesen, Henrik T Kibaek, Maria Aldinger, Kimberly A Manchester, David Matsumoto, Naomichi Muramatsu, Kazuhiro Saitsu, Hirotomo Shiina, Masaaki Ogata, Kazuhiro Foulds, Nicola Dobyns, William B Chi, Neil C Traver, David Spaccini, Luigina Bova, Stefania Maria Gabriel, Stacey B Gunel, Murat Valente, Enza Maria Nassogne, Marie-Cécile[UCL] Bennett, Eric J Yeo, Gene W Baas, Frank Lykke-Andersen, Jens Gleeson, Joseph G (2017) Nature Genetics — Vol. 49, no. 3, p. 457-464 (2017)
    • Article de périodique
    The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome.
    Attout, Lucie[UCL] Noël, Marie-Pascale[UCL] Nassogne, Marie-Cécile[UCL] Rousselle, Laurence (2017) PLoS One — Vol. 12, no. 2, p. e0171454 [1-24] (2017)
    • Article de périodique
    Disorders of purine biosynthesis metabolism.
    Dewulf, Joseph P.[UCL] Marie, Sandrine[UCL] Nassogne, Marie-Cécile[UCL] (2022) Molecular genetics and metabolism — Vol. 136, no. 3, p. 190-198 (2022)
    • Article de périodique
    L'enfant agité: pathogénies et traitements.
    Kinoo, Philippe[UCL] Nassogne, Marie-Cécile[UCL] Roskam, Isabelle[UCL] (2008) Pharma-Sphère — Vol. 127 (2008)
    • Article de périodique
    Urea cycle defects: management and outcome.
    Nassogne, Marie-Cécile[UCL] Héron, B. Touati, G Rabier, D. Saudubray, J M (2005) Journal of inherited metabolic disease — Vol. 28, no. 3, p. 407-714 (2005)
    • Article de périodique
    Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
    Heard, Jean-Michel Vrinten, Charlotte Schlander, Michael Bellettato, Cinzia Maria van Lingen, Corine Scarpa, Maurizio the MetabERN collaboration group Nassogne, Marie-Cécile[UCL] (2020) Orphanet journal of rare diseases — Vol. 15, no. 1, p. 3 [1-10] (2020)
    • Chapitre
    Practical aspects of problems encountered in the treatment of hyperammonaemia
    Nassogne, Marie-Cécile[UCL] (2007) Pathophysiology and management of hyperammonaemia — [ISBN : 978-3-936145-56-4]
    • Article de périodique
    Coma postopératoire chez une jeune fille
    Nassogne, Marie-Cécile[UCL] Veyckemans, Francis[UCL] (2008) Percentile — Vol. 13, no.4, p. 167-169 (2008)
    • Article de périodique
    Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
    Schoonjans, An Sofie Johannesen, Katrine M Liu, Yuanyuan Koko, Mahmoud Gjerulfsen, Cathrine E Sonnenberg, Lukas Schubert, Julian Fenger, Christina D Eltokhi, Ahmed Rannap, Maert Koch, Nils A Lauxmann, Stephan Krüger, Johanna Kegele, Josua Canafoglia, Laura Franceschetti, Silvana Mayer, Thomas Rebstock, Johannes Zacher, Pia Ruf, Susanne Alber, Michael Sterbova, Katalin Lassuthová, Petra Vlckova, Marketa Lemke, Johannes R Platzer, Konrad Krey, Ilona Heine, Constanze Wieczorek, Dagmar Kroell-Seger, Judith Lund, Caroline Klein, Karl Martin Au, P Y Billie Rho, Jong M Ho, Alice W Masnada, Silvia Veggiotti, Pierangelo Giordano, Lucio Accorsi, Patrizia Hoei-Hansen, Christina E Striano, Pasquale Zara, Federico Verhelst, Helene Verhoeven, Judith S Braakman, Hilde M H van der Zwaag, Bert Harder, Aster V E Brilstra, Eva Pendziwiat, Manuela Lebon, Sebastian Vaccarezza, Maria Le, Ngoc Minh Christensen, Jakob Grønborg, Sabine Scherer, Stephen W Howe, Jennifer Fazeli, Walid Howell, Katherine B Leventer, Richard Stutterd, Chloe Walsh, Sonja Gerard, Marion Gerard, Bénédicte Matricardi, Sara Bonardi, Claudia M Sartori, Stefano Berger, Andrea Hoffman-Zacharska, Dorota Mastrangelo, Massimo Darra, Francesca Vøllo, Arve Motazacker, M Mahdi Lakeman, Phillis Nizon, Mathilde Betzler, Cornelia Altuzarra, Cecilia Caume, Roseline Roubertie, Agathe Gélisse, Philippe Marini, Carla Guerrini, Renzo Bilan, Frederic Tibussek, Daniel Koch-Hogrebe, Margarete Perry, M Scott Ichikawa, Shoji Dadali, Elena Sharkov, Artem Mishina, Irina Abramov, Mikhail Kanivets, Ilya Korostelev, Sergey Kutsev, Sergey Wain, Karen E Eisenhauer, Nancy Wagner, Monisa Savatt, Juliann M Müller-Schlüter, Karen Bassan, Haim Borovikov, Artem Nassogne, Marie-Cécile[UCL] Destrée, Anne (2022) Brain — Vol. 145, no.9, p. 2991-3009 (2022)
    • Article de périodique
    Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
    Holder-Espinasse, M Marie, Sabine[UCL] Bourrouillou, G Ceballos-Picot, I Nassogne, Marie-Cécile[UCL] Faivre, L. Amiel, J Munnich, A. Vincent, Marie-Françoise[UCL] Cormier-Daire, V (2002) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 39, no. 6, p. 440-442 (2002)
    • Chapitre
    Medical treatment of hyperammonemia
    Nassogne, Marie-Cécile[UCL] Vincent, Marie[UCL] (2014) Current Approach to Hyperammonemia — [ISBN : 978-1-78084-483-1]
    • Communication
    Development and validation of a simple LC-MS/MS method for the quantification of MTHF in human cerebrospinal fluid using deuterated MTHF as internal standard
    Dewulf, Joseph P.[UCL] Vanderstocken, Christophe[UCL] Nassogne, Marie-Cécile[UCL] Marie, Sandrine[UCL] Vincent, Marie-Françoise[UCL] (2013) International Congress of Inborn Errors of Metabolism (ICIEM) — Barcelona, Spain
    • Article de périodique
    L'enfant "agité" : pathogénies et traitements
    Kinoo, Philippe[UCL] Nassogne, Marie-Cécile[UCL] Roskam, Isabelle[UCL] (2008) Pharma-Sphere — no. 127, p. 10-12 (2008)
    • Article de périodique
    Epidural Abscess Caused by Scedosporium apiospermum in an Immunocompetent Child.
    Cruysmans, Caroline[UCL] Rodriguez-Villalobos, Hector[UCL] Fomekong, Edward[UCL] Dumitriu, Dana Loana[UCL] Nassogne, Marie-Cécile[UCL] Van der Linden, Dimitri[UCL] (2015) The Pediatric Infectious Disease Journal — Vol. 34, no.11, p. 1277-1278 (2015)
    • Article de périodique
    Outcome and prognosis of whiplash shaken infant syndrome; Late consequences after a symptom-free interval
    Bonnier, Christine Nassogne, Marie-Cécile[UCL] Evrard, Philippe[UCL] (1995) Developmental Medicine and Child Neurology — Vol. 37, no. 11, p. 943-956 (1995)
    • Article de périodique
    Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency.
    Stéphenne, Xavier[UCL] Najimi, Mustapha[UCL] Sibille, Catherine[UCL] Nassogne, Marie-Cécile[UCL] Smets, Françoise[UCL] Sokal, Etienne[UCL] (2006) Gastroenterology — Vol. 130, no. 4, p. 1317-23 (2006)
    • Chapitre
    Troubles du comportement primaires et diagnostic différentiel
    Nassogne, Marie-Cécile[UCL] Charlier, Dominique[UCL] Kinoo, Philippe[UCL] (2012) Les enfants difficiles (3-8 ans) : évaluation, développement et facteurs de risque — [ISBN : 978-2-8047-0097-3]
    • Article de périodique
    Neuroimaging of intraparenchymal lesions predicts outcome in shaken baby syndrome.
    Bonnier, Christine[UCL] Nassogne, Marie-Cécile[UCL] Saint-Martin, Christine[UCL] Mesples, Bettina Kadhim, Hazim[UCL] Sébire, Guillaume[UCL] (2003) Pediatrics — Vol. 112, no. 4, p. 808-814 (2003)
    • 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
    Cardiac and neurological assessment of normothermia/warm blood cardioplegia vs hypothermia/cold crystalloid cardioplegia in pediatric cardiac surgery : insight from a prospective randomized trial.
    Poncelet, Alain[UCL] van Steenberghe, Mathieu[UCL] Moniotte, Stéphane[UCL] Detaille, Thierry[UCL] Beauloye, Christophe[UCL] Bertrand, Luc[UCL] Nassogne, Marie-Cécile[UCL] Rubay, Jean[UCL] (2011) European Journal of Cardio-Thoracic Surgery — Vol. 40, no. 6, p. 1384-1390 (2011)
    • Article de périodique
    Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
    Mehta, A. Beck, M. Elliott, P. Giugliani, R. Linhart, A. Sunder-Plassmann, G. Schiffmann, R. Barbey, F. Ries, M. Clarke, J. T. R. FABRY outcome survey investigators Nassogne, Marie-Cécile[UCL] Pirson, Yves[UCL] (2009) The Lancet — Vol. 374, no.9706, p. 1986-1996 (2009)

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