Publications by authors named "Luc Regal"

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Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
Nathalie Smeets, Alexander Gheldof, Bart Dequeker, Margaux Poleur, Sofia Maldonado Slootjes

Pediatr Neurol· September 2024

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Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Luc Regal

Brain· March 2024

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Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Emmanuel Scalais, Christine Geron, Charlotte Pierron, Sandra Cardillo, Vincent Schlesser, Luc Regal

Mol Genet Metab· November 2023

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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Marit Schwantje, Merel S Ebberink, Mirjam Doolaard, Jos P N Ruiter, Sabine A Fuchs

J Inherit Metab Dis· July 2022

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Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.
Karen Rosier, Molly T McDevitt, Joél Smet, Brendan J Floyd, Maxime Verschoore

iScience· December 2021

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Defining the phenotypical spectrum associated with variants in .
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal

J Med Genet· January 2021

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Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S Pearson, H Serap Sivri, Luc Regal

Orphanet J Rare Dis· August 2020

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies.
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S Pearson, H Serap Sivri, Luc Regal

Orphanet J Rare Dis· May 2020

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Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.
Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen

Front Genet· February 2020

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Luc Regal

JIMD Rep· September 2019

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Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.
Carine I van Capelle, Esther Poelman, Ingrid M Frohn-Mulder, Laurens P Koopman, Johanna M P van den Hout

Int J Cardiol· October 2018

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Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Berendine J Ebbink, Esther Poelman, Femke K Aarsen, Iris Plug, Luc Régal

Dev Med Child Neurol· June 2018

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PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer

Genet Med· January 2018

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Isolated sulfite oxidase deficiency.
Helena Claerhout, Peter Witters, Luc Régal, Katrien Jansen, Marie-Rose Van Hoestenberghe

J Inherit Metab Dis· January 2018

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond

Hum Mutat· July 2016

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Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.
Peter Witters, Luc Régal, Hans R Waterham, Linda De Meirleir, Ronald J A Wanders

Am J Med Genet A· June 2016

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Peroxisomal Disorders: A Review on Cerebellar Pathologies.
Stephanie De Munter, Simon Verheijden, Luc Régal, Myriam Baes

Brain Pathol· November 2015

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M A Forte

Am J Med Genet A· February 2015

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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger

Am J Hum Genet· December 2014

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PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
Luc Régal, Xin-Ming Shen, Duygu Selcen, Chantal Verhille, Sandra Meulemans

Neurology· April 2014

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Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
Heidi Schaballie, Marleen Renard, Christiane Vermylen, Isabelle Scheers, Nicole Revencu, Luc Regal

Eur J Pediatr· May 2013

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NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
Sophie Louwette, Luc Régal, Christine Wittevrongel, Chantal Thys, Gwenny Vandeweeghde

Hum Mol Genet· January 2013

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COG5-CDG: expanding the clinical spectrum.
Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck

Orphanet J Rare Dis· December 2012

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Two novel deletions in hypotonia-cystinuria syndrome.
Luc Régal, Halil Ibrahim Aydin, Anne-Marie Dieltjens, Hilde Van Esch, Inge Francois

Mol Genet Metab· November 2012

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Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.
Marjan E Steenweg, Adeline Vanderver, Berten Ceulemans, Prab Prabhakar, Luc Régal

Arch Neurol· June 2012

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