Researcher
Luc Regal
- Keywords:Medicine
Affiliations
- Pediatrics (Department)
Member
From1 Jan 2023 → Today - Growth and Development (Research group)
Member
From21 Oct 2022 → Today - Pediatrics (Department)
Member
From1 Jan 2023 → 3 Jan 2024 - Pediatrics (Department)
Member
From1 Jan 2015 → 31 Dec 2022
Publications
1 - 10 of 20
- Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5(2024)
Authors: 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.
Pages: 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)
Authors: 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)
Authors: 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.
Pages: 484-495 - Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy(2022)
Authors: 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.
Pages: 819-831 - Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function(2021)
Authors: 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)
Authors: Sietske Vermaning, Anna C Jansen, Tim Vanderhasselt, Luc Régal, Tessa Wassenberg
Pages: 72-75 - Defining the phenotypical spectrum associated with variants in TUBB2A(2021)
Authors: Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, K. Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, et al.
Pages: 1-8 - Correction to(2020)
Authors: 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)
Authors: 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)
Authors: Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C Jansen, Marije Meuwissen