Luc Régal: search on Z-Library

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1

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

Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke K, Plug, Iris, Régal, Luc, Muentjes, Carsten, van der Beek, Nadine A M E, Lequin, Maarten H, van der Ploeg, Ans T, van den Hout, Johanna M P

Journal:

Developmental Medicine & Child Neurology

Year:

2018

Language:

english

File:

PDF, 330 KB

english, 2018

2

Mutations in PEX10 are a cause of autosomal recessive ataxia

Luc Régal, Merel S. Ebberink, Nathalie Goemans, Ronald J. A. Wanders, Linda De Meirleir, Jacques Jaeken, Maarten Schrooten, Rudy Van Coster, Hans R. Waterham

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 173 KB

english, 2010

3

Evaluation of the pediatric patient with hypotonia: don’t forget the hypotonia-cystinuria syndrome!

Jaak Jaeken, John Creemers, Luc Régal

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 36 KB

english, 2012

4

Neuromyelitis optica-IgG(+) optic neuritis associated with celiac disease and dysgammaglobulinemia: A role for tacrolimus?

Isabelle Meyts, Katrien Jansen, Marleen Renard, Xavier Bossuyt, Filip Roelens, Luc Régal, Lieven Lagae, Gunnar Buyse

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 182 KB

english, 2011

5

Two novel deletions in hypotonia–cystinuria syndrome

Luc Régal, Halil Ibrahim Aydin, Anne-Marie Dieltjens, Hilde Van Esch, Inge Francois, Ilyas Okur, Cengiz Zeybek, Sandra Meulemans, Christine Van Mol, Lore Van Bruwaene, Siao-Hann Then, Jaak Jaeken, Joh

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 516 KB

english, 2012

6

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

Schaballie, Heidi, Renard, Marleen, Vermylen, Christiane, Scheers, Isabelle, Revencu, Nicole, Regal, Luc, Cassiman, David, Sevenants, Lieve, Hoffman, Ilse, Corveleyn, Anniek, Bordon, Victoria, Haerync

Journal:

European Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 253 KB

english, 2013

7

Feasibility of a semiconductor dosimeter to monitor skin dose in interventional radiology

Meyer, Philippe, Regal, Raymond, Jung, Monique, Siffert, Paul, Mertz, Luc, Constantinesco, André

Journal:

Medical Physics

Year:

2001

Language:

english

File:

PDF, 759 KB

english, 2001

8

Cerebral Syphilitic Gumma in a Human Immunodeficiency Virus–Positive Patient

Régal, Luc, Demaerel, Philippe, Dubois, Bénédicte

Journal:

Archives of Neurology

Year:

2005

Language:

english

File:

PDF, 92 KB

english, 2005

9

PREPL, a Prolyl Endopeptidase-Like Enzyme by Name Only? – Lessons from Patients

Boonen, Kurt, Regal, Luc, Jaeken, Jaak, W.M. Creemers, John

Journal:

CNS & Neurological Disorders - Drug Targets (Formerly Current Drug Targets - CNS & Neurological Disorders)

Year:

2011

Language:

english

File:

PDF, 301 KB

english, 2011

10

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

Witters, Peter, Régal, Luc, Waterham, Hans R., De Meirleir, Linda, Wanders, Ronald J. A., Morava, Eva

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 248 KB

english, 2016

11

Peroxisomal Disorders: A Review on Cerebellar Pathologies

De Munter, Stephanie, Verheijden, Simon, Régal, Luc, Baes, Myriam

Journal:

Brain Pathology

Year:

2015

Language:

english

File:

PDF, 474 KB

english, 2015

12

SPIE Proceedings [SPIE SPIE Astronomical Telescopes + Instrumentation - Edinburgh, United Kingdom (Sunday 26 June 2016)] Ground-based and Airborne Instrumentation for Astronomy VI - Integration and testing of the DESI spectrograph prototype

Evans, Christopher J., Simard, Luc, Takami, Hideki, Perruchot, S., Secroun, A., Blanc, P.-E., Ronayette, S., Régal, X., Castagnoli, G., Le Van Suu, A., Ealet, A., Cuby, J.-G., Elliot, A., Honscheid, K

Year:

2016

Language:

english

File:

PDF, 1.14 MB

english, 2016

13

The G93C Mutation in Superoxide Dismutase 1

Régal, Luc, Vanopdenbosch, Ludo, Tilkin, Petra, Van Den Bosch, Ludo, Thijs, Vincent, Sciot, Rafael, Robberecht, Wim

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 267 KB

english, 2006

14

Neuropsychological profile of long-term treated patients with classic infantile Pompe disease

Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke, Plug, Iris, Regal, Luc, Muentjes, Carsten, van der Beek, Nadine, Lequin, Maarten, Van der Ploeg, Ans, Van den Hout, Hannerieke

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 67 KB

english, 2017

15

MALDI MS profiling of serum O- and N-glycosylation in COG5-CDG

Palmigiano, Angelo, Bua, Rosaria Ornella, Barone, Rita, Rymen, Daisy, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Garozzo, Domenico, Jaeken, Jaak, Sturiale, Luisa

Journal:

Journal of Mass Spectrometry

Year:

2017

Language:

english

File:

PDF, 459 KB

english, 2017

16

Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement

Steenweg, Marjan E., Vanderver, Adeline, Ceulemans, Berten, Prabhakar, Prab, Régal, Luc, Fattal-Valevski, Aviva, Richer, Lawrence, Simonetti, Barbara Goeggel, Barkhof, Frederik, Rodenburg, Richard J.

Journal:

Archives of Neurology

Year:

2012

Language:

english

File:

PDF, 533 KB

english, 2012

17

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A Jeannette M, Olsson Engman, Mia, Hollemans, Tess, Schouten, M

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 801 KB

english, 2017

18

Isolated sulfite oxidase deficiency

Claerhout, Helena, Witters, Peter, Régal, Luc, Jansen, Katrien, Van Hoestenberghe, Marie-Rose, Breckpot, Jeroen, Vermeersch, Pieter

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 2.75 MB

english, 2017

19

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

van Capelle, Carine I., Poelman, Esther, Frohn-Mulder, Ingrid M., Koopman, Laurens P., van den Hout, Johanna M.P., Régal, Luc, Cools, Bjorn, Helbing, Wim A., van der Ploeg, Ans T.

Journal:

International Journal of Cardiology

Year:

2018

Language:

english

File:

PDF, 683 KB

english, 2018