Publications by authors named "Luc Régal"

27Publications

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

Int J Cardiol 2018 Oct 19;269:104-110. Epub 2018 Jul 19.

Pompe Center and Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2018.07.091DOI Listing
October 2018

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Dev Med Child Neurol 2018 06 24;60(6):579-586. Epub 2018 Mar 24.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.13740DOI Listing
June 2018

Isolated sulfite oxidase deficiency.

J Inherit Metab Dis 2018 01 4;41(1):101-108. Epub 2017 Oct 4.

Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10545-017-0089-4DOI Listing
January 2018

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Am J Med Genet A 2016 Jun 23;170(6):1642-6. Epub 2016 Mar 23.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37628DOI Listing
June 2016

Peroxisomal Disorders: A Review on Cerebellar Pathologies.

Brain Pathol 2015 Nov 19;25(6):663-78. Epub 2015 Aug 19.

Department of Pharmaceutical and Pharmacological Sciences, Cell Metabolism, KU Leuven-University of Leuven, B-3000, Leuven, Belgium.

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http://dx.doi.org/10.1111/bpa.12290DOI Listing
November 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Neurology 2014 Apr 7;82(14):1254-60. Epub 2014 Mar 7.

From the Center of Human Genetics (L.R., J.W.M.C., S.M.), Laboratory of Biochemical Neuroendocrinology, KU Leuven; Department of Pediatrics and Pediatric Metabolic Disorders (C.V.), University Hospital Leuven, Belgium; and Department of Neurology (X.-M.S., D.S., A.G.E.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1212/WNL.0000000000000295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001208PMC
April 2014

Two novel deletions in hypotonia-cystinuria syndrome.

Mol Genet Metab 2012 Nov 26;107(3):614-6. Epub 2012 Jun 26.

Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.011DOI Listing
November 2012

PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.

CNS Neurol Disord Drug Targets 2011 May;10(3):355-60

Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, Belgium.

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http://dx.doi.org/10.2174/187152711794653760DOI Listing
May 2011

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Ann Neurol 2010 Aug;68(2):259-63

Department of Pediatrics, Metabolic Center, University Hospital Leuven, Belgium.

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http://dx.doi.org/10.1002/ana.22035DOI Listing
August 2010

The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis.

Arch Neurol 2006 Feb;63(2):262-7

Department of Neurology and Experimental Neurology, University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1001/archneur.63.2.262DOI Listing
February 2006