De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, Jolanda H; de Bot, Susanne T; van de Pol, Laura A; Wolf, Nicole I; Brilstra, Eva H; Frints, Suzanna G; van Gaalen, Judith; Misra-Isrie, Mala; Pennings, Maartje; Verschuuren-Bemelmans, Corien C; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P; Willemsen, Michèl A

doi:https://doi.org/10.1093/brain/awz140

De novo SPAST mutations may cause a complex SPG4 phenotype

DSpace/Manakin Repository

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, Jolanda H; de Bot, Susanne T; van de Pol, Laura A; Wolf, Nicole I; Brilstra, Eva H; Frints, Suzanna G; van Gaalen, Judith; Misra-Isrie, Mala; Pennings, Maartje; Verschuuren-Bemelmans, Corien C; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P; Willemsen, Michèl A

(2019) Brain : a journal of neurology, volume 142, issue 7

(Letter)

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Keywords: Humans, Mutation, Paraplegia, Phenotype, Spastin, Letter, Comment

DOI: https://doi.org/10.1093/brain/awz140

ISSN: 0006-8950

Publisher: Oxford University Press

(Peer reviewed)