A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Cas Simons, David Dyment, Stephen J. Bent, Joanna Crawford, Marc D'Hooghe, Alfried Kohlschuetter, Sunita Venkateswaran, Guy Helman, Bwee-Tien Poll-The, Christine C. Makowski, Yoko Ito, Kristin Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J. Taft, Marjo S. van der Knaap, Nicole I. Wolf

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)3105-3111
JournalBrain
Volume140
DOIs
Publication statusPublished - Dec 2017

Cite this

Simons, C., Dyment, D., Bent, S. J., Crawford, J., D'Hooghe, M., Kohlschuetter, A., ... Wolf, N. I. (2017). A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. Brain, 140, 3105-3111. https://doi.org/10.1093/brain/awx314
Simons, Cas ; Dyment, David ; Bent, Stephen J. ; Crawford, Joanna ; D'Hooghe, Marc ; Kohlschuetter, Alfried ; Venkateswaran, Sunita ; Helman, Guy ; Poll-The, Bwee-Tien ; Makowski, Christine C. ; Ito, Yoko ; Kernohan, Kristin ; Hartley, Taila ; Waisfisz, Quinten ; Taft, Ryan J. ; van der Knaap, Marjo S. ; Wolf, Nicole I. / A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. In: Brain. 2017 ; Vol. 140. pp. 3105-3111.
@article{4fc0a830a759431883149d966d7f2078,
title = "A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy",
keywords = "hypomyelinating leukodystrophies, TMEM106B, myelin, MRI, lysosomes",
author = "Cas Simons and David Dyment and Bent, {Stephen J.} and Joanna Crawford and Marc D'Hooghe and Alfried Kohlschuetter and Sunita Venkateswaran and Guy Helman and Bwee-Tien Poll-The and Makowski, {Christine C.} and Yoko Ito and Kristin Kernohan and Taila Hartley and Quinten Waisfisz and Taft, {Ryan J.} and {van der Knaap}, {Marjo S.} and Wolf, {Nicole I.}",
year = "2017",
month = "12",
doi = "10.1093/brain/awx314",
language = "English",
volume = "140",
pages = "3105--3111",
journal = "Brain",
issn = "0006-8950",
publisher = "Oxford University Press",

}

Simons, C, Dyment, D, Bent, SJ, Crawford, J, D'Hooghe, M, Kohlschuetter, A, Venkateswaran, S, Helman, G, Poll-The, B-T, Makowski, CC, Ito, Y, Kernohan, K, Hartley, T, Waisfisz, Q, Taft, RJ, van der Knaap, MS & Wolf, NI 2017, 'A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy' Brain, vol. 140, pp. 3105-3111. https://doi.org/10.1093/brain/awx314

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. / Simons, Cas; Dyment, David; Bent, Stephen J.; Crawford, Joanna; D'Hooghe, Marc; Kohlschuetter, Alfried; Venkateswaran, Sunita; Helman, Guy; Poll-The, Bwee-Tien; Makowski, Christine C.; Ito, Yoko; Kernohan, Kristin; Hartley, Taila; Waisfisz, Quinten; Taft, Ryan J.; van der Knaap, Marjo S.; Wolf, Nicole I.

In: Brain, Vol. 140, 12.2017, p. 3105-3111.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

AU - Simons, Cas

AU - Dyment, David

AU - Bent, Stephen J.

AU - Crawford, Joanna

AU - D'Hooghe, Marc

AU - Kohlschuetter, Alfried

AU - Venkateswaran, Sunita

AU - Helman, Guy

AU - Poll-The, Bwee-Tien

AU - Makowski, Christine C.

AU - Ito, Yoko

AU - Kernohan, Kristin

AU - Hartley, Taila

AU - Waisfisz, Quinten

AU - Taft, Ryan J.

AU - van der Knaap, Marjo S.

AU - Wolf, Nicole I.

PY - 2017/12

Y1 - 2017/12

KW - hypomyelinating leukodystrophies

KW - TMEM106B

KW - myelin

KW - MRI

KW - lysosomes

U2 - 10.1093/brain/awx314

DO - 10.1093/brain/awx314

M3 - Article

VL - 140

SP - 3105

EP - 3111

JO - Brain

JF - Brain

SN - 0006-8950

ER -

Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschuetter A et al. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. Brain. 2017 Dec;140:3105-3111. https://doi.org/10.1093/brain/awx314