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-lsrie; Maartje Pennings; Corien C. Verschuuren-Bemelmans; Erik-Jan Kamsteeg; Bart P. van de Warrenburg; Michel 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-lsrie
, Maartje Pennings
, Corien C. Verschuuren-Bemelmans
, Erik-Jan Kamsteeg
, Bart P. van de Warrenburg
, Michel A. Willemsen^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Original language	English
Article number	e31
Number of pages	5
Journal	Brain
Volume	142
Issue number	7
DOIs	https://doi.org/10.1093/brain/awz140
Publication status	Published - Jul 2019

Keywords

PARAPLEGIA CLINICAL-FEATURES
AUTOSOMAL-DOMINANT
SOMATIC MOSAICISM
SPECTRUM
ONSET
FREQUENT
CHILDREN
PROTEIN
SERIES
ATL1

Access to Document

10.1093/brain/awz140Licence: CC BY-NC

Cite this

@article{4dd1842add3e4b7baffbb747589f0318,

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

keywords = "PARAPLEGIA CLINICAL-FEATURES, AUTOSOMAL-DOMINANT, SOMATIC MOSAICISM, SPECTRUM, ONSET, FREQUENT, CHILDREN, PROTEIN, SERIES, ATL1",

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-lsrie and Maartje Pennings and Verschuuren-Bemelmans, \{Corien C.\} and Erik-Jan Kamsteeg and \{van de Warrenburg\}, \{Bart P.\} and Willemsen, \{Michel A.\}",

year = "2019",

month = jul,

doi = "10.1093/brain/awz140",

language = "English",

volume = "142",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

number = "7",

}

TY - JOUR

T1 - De novo SPAST mutations may cause a complex SPG4 phenotype

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-lsrie, Mala

AU - Pennings, Maartje

AU - Verschuuren-Bemelmans, Corien C.

AU - Kamsteeg, Erik-Jan

AU - van de Warrenburg, Bart P.

AU - Willemsen, Michel A.

PY - 2019/7

Y1 - 2019/7

KW - PARAPLEGIA CLINICAL-FEATURES

KW - AUTOSOMAL-DOMINANT

KW - SOMATIC MOSAICISM

KW - SPECTRUM

KW - ONSET

KW - FREQUENT

KW - CHILDREN

KW - PROTEIN

KW - SERIES

KW - ATL1

U2 - 10.1093/brain/awz140

DO - 10.1093/brain/awz140

M3 - Comment/Letter to the editor

C2 - 31157359

SN - 0006-8950

VL - 142

JO - Brain

JF - Brain

IS - 7

M1 - e31

ER -