De novo SPAST mutations may cause a complex SPG4 phenotype

Author:

Schieving Jolanda H1,de Bot Susanne T2,van de Pol Laura A3,Wolf Nicole I34ORCID,Brilstra Eva H5,Frints Suzanna G67,van Gaalen Judith8,Misra-Isrie Mala9,Pennings Maartje10,Verschuuren-Bemelmans Corien C11,Kamsteeg Erik-Jan10,van de Warrenburg Bart P8,Willemsen Michèl A1

Affiliation:

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

2. Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands

3. Department of Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands

4. Amsterdam Neuroscience, Amsterdam, The Netherlands

5. University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands

6. Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands

7. Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands

8. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands

9. Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands

10. Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands

11. University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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