A novel mutation in COQ2 leading to fatal infantile multisystem disease.

Bernadette S Jakobs; Lambert P van den Heuvel; Roel J P Smeets; Maaike C de Vries; Steffen Hien; Thomas Schaible; Jan A M Smeitink; Ron A Wevers; Saskia Wortmann; Richard J T Rodenburg

doi:10.1016/j.jns.2013.01.004

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

Bernadette S Jakobs, Lambert P van den Heuvel, Roel J P Smeets, Maaike C de Vries, Steffen Hien, Thomas Schaible, Jan A M Smeitink, Ron A Wevers, Saskia Wortmann (Co-author), Richard J T Rodenburg

Research output: Contribution to journal › Original Article › peer-review

40 Citations (Web of Science)

Original language	English
Pages (from-to)	24-28
Journal	JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume	326
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2013.01.004
Publication status	Published - 2013

Keywords

COENZYME Q(10) DEFICIENCY
RESPIRATORY-CHAIN
OXIDATIVE STRESS
COMPLEX-I
UBIQUINONE
PLASMA
ENCEPHALOMYOPATHY
HETEROGENEITY
SUBSTITUTIONS
TOCOPHEROLS

Access to Document

10.1016/j.jns.2013.01.004

Cite this

Jakobs, B. S., van den Heuvel, L. P., Smeets, R. J. P., de Vries, M. C., Hien, S., Schaible, T., Smeitink, J. A. M., Wevers, R. A., Wortmann, S., & Rodenburg, R. J. T. (2013). A novel mutation in COQ2 leading to fatal infantile multisystem disease. JOURNAL OF THE NEUROLOGICAL SCIENCES , 326(1-2), 24-28. https://doi.org/10.1016/j.jns.2013.01.004

Jakobs, Bernadette S ; van den Heuvel, Lambert P ; Smeets, Roel J P et al. / A novel mutation in COQ2 leading to fatal infantile multisystem disease. In: JOURNAL OF THE NEUROLOGICAL SCIENCES 2013 ; Vol. 326, No. 1-2. pp. 24-28.

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title = "A novel mutation in COQ2 leading to fatal infantile multisystem disease.",

keywords = "COENZYME Q(10) DEFICIENCY, RESPIRATORY-CHAIN, OXIDATIVE STRESS, COMPLEX-I, UBIQUINONE, PLASMA, ENCEPHALOMYOPATHY, HETEROGENEITY, SUBSTITUTIONS, TOCOPHEROLS",

author = "Jakobs, \{Bernadette S\} and \{van den Heuvel\}, \{Lambert P\} and Smeets, \{Roel J P\} and \{de Vries\}, \{Maaike C\} and Steffen Hien and Thomas Schaible and Smeitink, \{Jan A M\} and Wevers, \{Ron A\} and Saskia Wortmann and Rodenburg, \{Richard J T\}",

year = "2013",

doi = "10.1016/j.jns.2013.01.004",

language = "English",

volume = "326",

pages = "24--28",

journal = "JOURNAL OF THE NEUROLOGICAL SCIENCES ",

issn = "0022-510X",

publisher = "Elsevier ",

number = "1-2",

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Jakobs, BS, van den Heuvel, LP, Smeets, RJP, de Vries, MC, Hien, S, Schaible, T, Smeitink, JAM, Wevers, RA, Wortmann, S & Rodenburg, RJT 2013, 'A novel mutation in COQ2 leading to fatal infantile multisystem disease.', JOURNAL OF THE NEUROLOGICAL SCIENCES , vol. 326, no. 1-2, pp. 24-28. https://doi.org/10.1016/j.jns.2013.01.004

A novel mutation in COQ2 leading to fatal infantile multisystem disease. / Jakobs, Bernadette S; van den Heuvel, Lambert P; Smeets, Roel J P et al.
In: JOURNAL OF THE NEUROLOGICAL SCIENCES , Vol. 326, No. 1-2, 2013, p. 24-28.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - A novel mutation in COQ2 leading to fatal infantile multisystem disease.

AU - Jakobs, Bernadette S

AU - van den Heuvel, Lambert P

AU - Smeets, Roel J P

AU - de Vries, Maaike C

AU - Hien, Steffen

AU - Schaible, Thomas

AU - Smeitink, Jan A M

AU - Wevers, Ron A

AU - Wortmann, Saskia

AU - Rodenburg, Richard J T

PY - 2013

Y1 - 2013

KW - COENZYME Q(10) DEFICIENCY

KW - RESPIRATORY-CHAIN

KW - OXIDATIVE STRESS

KW - COMPLEX-I

KW - UBIQUINONE

KW - PLASMA

KW - ENCEPHALOMYOPATHY

KW - HETEROGENEITY

KW - SUBSTITUTIONS

KW - TOCOPHEROLS

U2 - 10.1016/j.jns.2013.01.004

DO - 10.1016/j.jns.2013.01.004

M3 - Original Article

C2 - 23343605

SN - 0022-510X

VL - 326

SP - 24

EP - 28

JO - JOURNAL OF THE NEUROLOGICAL SCIENCES

JF - JOURNAL OF THE NEUROLOGICAL SCIENCES

IS - 1-2

ER -

Jakobs BS, van den Heuvel LP, Smeets RJP, de Vries MC, Hien S, Schaible T et al. A novel mutation in COQ2 leading to fatal infantile multisystem disease. JOURNAL OF THE NEUROLOGICAL SCIENCES . 2013;326(1-2):24-28. doi: 10.1016/j.jns.2013.01.004