Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Marisa I. Mendes, Mariana Gutierrez Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S. Salomons, Laurence Gauquelin, Luan T. Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desiree E. C. Smith, Cas Simons, Marjo S. van der Knaap, Iris Marquardt, Aida Lemes, Hanna Mierzewska, Bernhard Weschke, Wolfgang Koehler, Benoit Coulombe, Nicole I. Wolf & 1 others Genevieve Bernard

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)676-684
JournalAmerican journal of human genetics
Volume102
Issue number4
DOIs
Publication statusPublished - 5 Apr 2018

Cite this

Mendes, Marisa I. ; Salazar, Mariana Gutierrez ; Guerrero, Kether ; Thiffault, Isabelle ; Salomons, Gajja S. ; Gauquelin, Laurence ; Tran, Luan T. ; Forget, Diane ; Gauthier, Marie-Soleil ; Waisfisz, Quinten ; Smith, Desiree E. C. ; Simons, Cas ; van der Knaap, Marjo S. ; Marquardt, Iris ; Lemes, Aida ; Mierzewska, Hanna ; Weschke, Bernhard ; Koehler, Wolfgang ; Coulombe, Benoit ; Wolf, Nicole I. ; Bernard, Genevieve. / Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. In: American journal of human genetics. 2018 ; Vol. 102, No. 4. pp. 676-684.
@article{567b022d5a8940339732cc2d43be84b8,
title = "Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy",
author = "Mendes, {Marisa I.} and Salazar, {Mariana Gutierrez} and Kether Guerrero and Isabelle Thiffault and Salomons, {Gajja S.} and Laurence Gauquelin and Tran, {Luan T.} and Diane Forget and Marie-Soleil Gauthier and Quinten Waisfisz and Smith, {Desiree E. C.} and Cas Simons and {van der Knaap}, {Marjo S.} and Iris Marquardt and Aida Lemes and Hanna Mierzewska and Bernhard Weschke and Wolfgang Koehler and Benoit Coulombe and Wolf, {Nicole I.} and Genevieve Bernard",
year = "2018",
month = "4",
day = "5",
doi = "10.1016/j.ajhg.2018.02.011",
language = "English",
volume = "102",
pages = "676--684",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",

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Mendes, MI, Salazar, MG, Guerrero, K, Thiffault, I, Salomons, GS, Gauquelin, L, Tran, LT, Forget, D, Gauthier, M-S, Waisfisz, Q, Smith, DEC, Simons, C, van der Knaap, MS, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, NI & Bernard, G 2018, 'Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy' American journal of human genetics, vol. 102, no. 4, pp. 676-684. https://doi.org/10.1016/j.ajhg.2018.02.011

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. / Mendes, Marisa I.; Salazar, Mariana Gutierrez; Guerrero, Kether; Thiffault, Isabelle; Salomons, Gajja S.; Gauquelin, Laurence; Tran, Luan T.; Forget, Diane; Gauthier, Marie-Soleil; Waisfisz, Quinten; Smith, Desiree E. C.; Simons, Cas; van der Knaap, Marjo S.; Marquardt, Iris; Lemes, Aida; Mierzewska, Hanna; Weschke, Bernhard; Koehler, Wolfgang; Coulombe, Benoit; Wolf, Nicole I.; Bernard, Genevieve.

In: American journal of human genetics, Vol. 102, No. 4, 05.04.2018, p. 676-684.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

AU - Mendes, Marisa I.

AU - Salazar, Mariana Gutierrez

AU - Guerrero, Kether

AU - Thiffault, Isabelle

AU - Salomons, Gajja S.

AU - Gauquelin, Laurence

AU - Tran, Luan T.

AU - Forget, Diane

AU - Gauthier, Marie-Soleil

AU - Waisfisz, Quinten

AU - Smith, Desiree E. C.

AU - Simons, Cas

AU - van der Knaap, Marjo S.

AU - Marquardt, Iris

AU - Lemes, Aida

AU - Mierzewska, Hanna

AU - Weschke, Bernhard

AU - Koehler, Wolfgang

AU - Coulombe, Benoit

AU - Wolf, Nicole I.

AU - Bernard, Genevieve

PY - 2018/4/5

Y1 - 2018/4/5

U2 - 10.1016/j.ajhg.2018.02.011

DO - 10.1016/j.ajhg.2018.02.011

M3 - Article

VL - 102

SP - 676

EP - 684

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 4

ER -