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Author/Creator Régal, Luc

1. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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2. Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. (15th October 2018)

Authors:
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
Issue:
Volume 269(2018)
Page Start:
104
Record Type:
Journal Article
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3. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015)

Authors:
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
296
Record Type:
Journal Article
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4. Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain. (24th March 2018)

Authors:
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
Issue:
Volume 60:Number 6(2018)
Page Start:
579
Record Type:
Journal Article
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5. Defining the phenotypical spectrum associated with variants in TUBB2A. Issue 1 (22nd June 2020)

Authors:
Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria S...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 1(2021)
Page Start:
33
Record Type:
Journal Article
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9. Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy. Issue 4 (5th May 2022)

Authors:
Schwantje, Marit; Ebberink, Merel S.; Doolaard, Mirjam; Ruiter, Jos P. N.; Fuchs, Sabine A.; Darin, Niklas; Hedberg‐Oldfors, Carola; Régal, Luc; Donker Kaat, Laura; Huidekoper, Hidde H.; Olpin, Simon; Cole, Duncan; Moat, Stuart J.; Visser, Gepke; Ferdinandusse, Sacha
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
819
Record Type:
Journal Article
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