Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Tobias B Haack; Florence Madignier; Martina Herzer; Eleonora Lamantea; Katharina Danhauser; Federica Invernizzi; Johannes Koch; Martin Freitag; Rene Drost; Ingo Hillier; Birgit Haberberger; Johannes A. Mayr; Uwe Ahting; Valeria Tiranti; Agnes Rötig; Arcangela Iuso; Rita Horvath; Marketa Tesarova; Ivo Baric; Graziella Uziel; Boris Rolinski; Wolfgang Sperl; Thomas Meitinger; Massimo Zeviani; Peter Freisinger; Holger Prokisch

doi:10.1136/jmedgenet-2011-100577

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Tobias B Haack
, Florence Madignier
, Martina Herzer
, Eleonora Lamantea
, Katharina Danhauser
, Federica Invernizzi
, Johannes Koch (Co-author)
, Martin Freitag
, Rene Drost
, Ingo Hillier
, Birgit Haberberger
, Johannes A. Mayr (Co-author)
, Uwe Ahting
, Valeria Tiranti
, Agnes Rötig
, Arcangela Iuso
, Rita Horvath
, Marketa Tesarova
, Ivo Baric
, Graziella Uziel

Boris Rolinski, Wolfgang Sperl (Co-author), Thomas Meitinger, Massimo Zeviani, Peter Freisinger, Holger Prokisch

Department of Pediatrics

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

85 Citations (Web of Science)

Original language	English
Pages (from-to)	83-89
Journal	JOURNAL OF MEDICAL GENETICS
Volume	49
Issue number	2
DOIs	https://doi.org/10.1136/jmedgenet-2011-100577
Publication status	Published - 2012

Keywords

MITOCHONDRIAL-DNA MUTATION
HEREDITARY OPTIC NEUROPATHY
NADH-QUINONE OXIDOREDUCTASE
LEIGH-SYNDROME
RESPIRATORY-CHAIN
ND3 GENE
MISSENSE MUTATION
ASSEMBLY FACTOR
DISEASE
SUBUNIT

Access to Document

10.1136/jmedgenet-2011-100577

Cite this

Haack, T. B., Madignier, F., Herzer, M., Lamantea, E., Danhauser, K., Invernizzi, F., Koch, J., Freitag, M., Drost, R., Hillier, I., Haberberger, B., Mayr, J. A., Ahting, U., Tiranti, V., Rötig, A., Iuso, A., Horvath, R., Tesarova, M., Baric, I., ... Prokisch, H. (2012). Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. JOURNAL OF MEDICAL GENETICS , 49(2), 83-89. https://doi.org/10.1136/jmedgenet-2011-100577

Haack, Tobias B ; Madignier, Florence ; Herzer, Martina et al. / Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. In: JOURNAL OF MEDICAL GENETICS 2012 ; Vol. 49, No. 2. pp. 83-89.

@article{69d5b64f0e464d58837717fc2e5f8e46,

title = "Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9",

keywords = "MITOCHONDRIAL-DNA MUTATION, HEREDITARY OPTIC NEUROPATHY, NADH-QUINONE OXIDOREDUCTASE, LEIGH-SYNDROME, RESPIRATORY-CHAIN, ND3 GENE, MISSENSE MUTATION, ASSEMBLY FACTOR, DISEASE, SUBUNIT",

author = "Haack, \{Tobias B\} and Florence Madignier and Martina Herzer and Eleonora Lamantea and Katharina Danhauser and Federica Invernizzi and Johannes Koch and Martin Freitag and Rene Drost and Ingo Hillier and Birgit Haberberger and Mayr, \{Johannes A.\} and Uwe Ahting and Valeria Tiranti and Agnes R{\"o}tig and Arcangela Iuso and Rita Horvath and Marketa Tesarova and Ivo Baric and Graziella Uziel and Boris Rolinski and Wolfgang Sperl and Thomas Meitinger and Massimo Zeviani and Peter Freisinger and Holger Prokisch",

note = "Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria",

year = "2012",

doi = "10.1136/jmedgenet-2011-100577",

language = "English",

volume = "49",

pages = "83--89",

journal = "JOURNAL OF MEDICAL GENETICS ",

issn = "0022-2593",

number = "2",

}

Haack, TB, Madignier, F, Herzer, M, Lamantea, E, Danhauser, K, Invernizzi, F, Koch, J, Freitag, M, Drost, R, Hillier, I, Haberberger, B, Mayr, JA, Ahting, U, Tiranti, V, Rötig, A, Iuso, A, Horvath, R, Tesarova, M, Baric, I, Uziel, G, Rolinski, B, Sperl, W, Meitinger, T, Zeviani, M, Freisinger, P & Prokisch, H 2012, 'Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9', JOURNAL OF MEDICAL GENETICS , vol. 49, no. 2, pp. 83-89. https://doi.org/10.1136/jmedgenet-2011-100577

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. / Haack, Tobias B; Madignier, Florence; Herzer, Martina et al.
In: JOURNAL OF MEDICAL GENETICS , Vol. 49, No. 2, 2012, p. 83-89.

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

TY - JOUR

T1 - Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

AU - Haack, Tobias B

AU - Madignier, Florence

AU - Herzer, Martina

AU - Lamantea, Eleonora

AU - Danhauser, Katharina

AU - Invernizzi, Federica

AU - Koch, Johannes

AU - Freitag, Martin

AU - Drost, Rene

AU - Hillier, Ingo

AU - Haberberger, Birgit

AU - Mayr, Johannes A.

AU - Ahting, Uwe

AU - Tiranti, Valeria

AU - Rötig, Agnes

AU - Iuso, Arcangela

AU - Horvath, Rita

AU - Tesarova, Marketa

AU - Baric, Ivo

AU - Uziel, Graziella

AU - Rolinski, Boris

AU - Sperl, Wolfgang

AU - Meitinger, Thomas

AU - Zeviani, Massimo

AU - Freisinger, Peter

AU - Prokisch, Holger

N1 - Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria

PY - 2012

Y1 - 2012

KW - MITOCHONDRIAL-DNA MUTATION

KW - HEREDITARY OPTIC NEUROPATHY

KW - NADH-QUINONE OXIDOREDUCTASE

KW - LEIGH-SYNDROME

KW - RESPIRATORY-CHAIN

KW - ND3 GENE

KW - MISSENSE MUTATION

KW - ASSEMBLY FACTOR

KW - DISEASE

KW - SUBUNIT

U2 - 10.1136/jmedgenet-2011-100577

DO - 10.1136/jmedgenet-2011-100577

M3 - Original Article

C2 - 22200994

SN - 0022-2593

VL - 49

SP - 83

EP - 89

JO - JOURNAL OF MEDICAL GENETICS

JF - JOURNAL OF MEDICAL GENETICS

IS - 2

ER -

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F et al. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. JOURNAL OF MEDICAL GENETICS . 2012;49(2):83-89. doi: 10.1136/jmedgenet-2011-100577