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-Autor/-in), Richard J T Rodenburg

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

39 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	24-28
Fachzeitschrift	JOURNAL OF THE NEUROLOGICAL SCIENCES
Jahrgang	326
Ausgabenummer	1-2
DOIs	https://doi.org/10.1016/j.jns.2013.01.004
Publikationsstatus	Veröffentlicht - 2013

Zugriff auf Dokument

10.1016/j.jns.2013.01.004

Dieses zitieren

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 ; Jahrgang 326, Nr. 1-2. S. 24-28.

@article{f25a498c05e84466ab1d43a1d073cc90,

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",

}

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 , Jg. 326, Nr. 1-2, S. 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 , Jahrgang 326, Nr. 1-2, 2013, S. 24-28.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

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