De novo SPAST mutations may cause a complex SPG4 phenotype

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

doi:10.1093/brain/awz140

De novo SPAST mutations may cause a complex SPG4 phenotype

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

Research output: Contribution to journal › Letter › Academic › peer-review

Original language	English
Article number	e31
Journal	Brain : a journal of neurology
Volume	142
Issue number	7
DOIs	https://doi.org/10.1093/brain/awz140
Publication status	Published - 1 Jul 2019

Keywords

Humans
Mutation
Paraplegia
Phenotype
Spastin

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10.1093/brain/awz140Licence: CC BY-NC

awz140Final published version, 269 KBLicence: CC BY-NC

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Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E.-J., van de Warrenburg, B. P., & Willemsen, M. A. (2019). De novo SPAST mutations may cause a complex SPG4 phenotype. Brain : a journal of neurology, 142(7), Article e31. https://doi.org/10.1093/brain/awz140

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title = "De novo SPAST mutations may cause a complex SPG4 phenotype",

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author = "Schieving, {Jolanda H} and {de Bot}, {Susanne T} and {van de Pol}, {Laura A} and Wolf, {Nicole I} and Brilstra, {Eva H} and Frints, {Suzanna G} and {van Gaalen}, Judith and Mala Misra-Isrie and Maartje Pennings and Verschuuren-Bemelmans, {Corien C} and Erik-Jan Kamsteeg and {van de Warrenburg}, {Bart P} and Willemsen, {Mich{\`e}l A}",

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AU - Schieving, Jolanda H

AU - de Bot, Susanne T

AU - van de Pol, Laura A

AU - Wolf, Nicole I

AU - Brilstra, Eva H

AU - Frints, Suzanna G

AU - van Gaalen, Judith

AU - Misra-Isrie, Mala

AU - Pennings, Maartje

AU - Verschuuren-Bemelmans, Corien C

AU - Kamsteeg, Erik-Jan

AU - van de Warrenburg, Bart P

AU - Willemsen, Michèl A

PY - 2019/7/1

Y1 - 2019/7/1

KW - Humans

KW - Mutation

KW - Paraplegia

KW - Phenotype

KW - Spastin

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U2 - 10.1093/brain/awz140

DO - 10.1093/brain/awz140

M3 - Letter

C2 - 31157359

SN - 0006-8950

VL - 142

JO - Brain : a journal of neurology

JF - Brain : a journal of neurology

IS - 7

M1 - e31

ER -

De novo SPAST mutations may cause a complex SPG4 phenotype

Keywords

Access to Document

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