Publications by authors named "Maartje Pennings"

10Publications

Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.

J Inherit Metab Dis 2020 Oct 9. Epub 2020 Oct 9.

Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12321DOI Listing
October 2020

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 07;142(7):e31

Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awz140DOI Listing
July 2019

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Eur J Hum Genet 2017 06 5;25(6):771-774. Epub 2017 Apr 5.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477372PMC
June 2017