Onderzoeker
Luc Regal
- Trefwoorden:Geneeskunde
Affiliaties
- Pediatrie (Departement)
Lid
Vanaf1 jan 2023 → Heden - Groei en ontwikkeling (Onderzoeksgroep)
Lid
Vanaf21 okt 2022 → Heden - Pediatrie (Departement)
Lid
Vanaf1 jan 2023 → 3 jan 2024 - Pediatrie (kind) (Departement)
Lid
Vanaf1 jan 2015 → 31 dec 2022
Publicaties
1 - 10 van 20
- Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5(2024)
Auteurs: Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Régal, Paola Podini, Maurizio D'Antonio, Camilo Toro, et al.
Pagina's: 1043-1056 - Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?(2023)
Auteurs: Emmanuel Scalais, Christine Geron, Charlotte Pierron, Sandra Cardillo, Vincent Schlesser, Frédéric Mataigne, Patricia Borde, Luc Régal
- European survey of newborn bloodspot screening for CF(2023)
Auteurs: Anne Munck, Daria O Berger, Kevin W Southern, Carla Carducci, Karin M de Winter-de Groot, Silvia Gartner, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, et al.
Pagina's: 484-495 - Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy(2022)
Auteurs: Marit Schwantje, Merel S Ebberink, Mirjam Doolaard, Jos P N Ruiter, Sabine A. Fuchs, Niklas Darin, Carola Hedberg-Oldfors, Luc Régal, Laura Donker Kaat, Hidde H Huidekoper, et al.
Pagina's: 819-831 - Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function(2021)
Auteurs: Karen Rosier, Molly T McDevitt, Joél Smet, Brendan J Floyd, Maxime Verschoore, Maria J Marcaida, Craig A Bingman, Irma Lemmens, Matteo Dal Peraro, Jan Tavernier, et al.
- Transient Headache and Neurological Deficits with cerebrospinal fluid Lymphocytosis (HaNDL-syndrome) with an acute confusional state and papilledema in a 10-year old girl: a case report.(2021)
Auteurs: Sietske Vermaning, Anna C Jansen, Tim Vanderhasselt, Luc Régal, Tessa Wassenberg
Pagina's: 72-75 - Defining the phenotypical spectrum associated with variants in TUBB2A(2021)
Auteurs: Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, K. Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, et al.
Pagina's: 1-8 - Correction to(2020)
Auteurs: Thomas Opladen, Eduardo López-Laso, Elisenda Cortès I Saladelafont, Toni S Pearson, H Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A Kurian, Vincenzo Leuzzi, Simon Heales, et al.
- Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies(2020)
Auteurs: Thomas Opladen, Eduardo López-Laso, Elisenda Cortès I Saladelafont, Toni S Pearson, H Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A Kurian, Vincenzo Leuzzi, Simon Heales, et al.
- Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly(2020)
Auteurs: Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C Jansen, Marije Meuwissen