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

doi:10.1093/brain/awx314

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 journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	3105-3111
Journal	Brain
Volume	140
DOIs	https://doi.org/10.1093/brain/awx314
Publication status	Published - Dec 2017

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10.1093/brain/awx314

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Simons, C., Dyment, D., Bent, S. J., Crawford, J., D'Hooghe, M., Kohlschuetter, A., Venkateswaran, S., Helman, G., Poll-The, B-T., Makowski, C. C., Ito, Y., Kernohan, K., Hartley, T., Waisfisz, Q., Taft, R. J., van der Knaap, M. S., & 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

@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 = dec,

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

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

C2 - 29186371

VL - 140

SP - 3105

EP - 3111

JO - Brain

JF - Brain

SN - 0006-8950

ER -