Deficiency of mitochondrial ATP synthase of nuclear genetic origin.

Wolfgang Sperl; P Jesina; J Zeman; Johannes A. Mayr; L Demeirleir; R VanCoster; A Pícková; H Hansíková; H Houst"ková; Z Krejcík; Johannes Koch; J Smet; Wolfgang Muss; E Holme; J Houstek

doi:10.1016/j.nmd.2006.08.008

Deficiency of mitochondrial ATP synthase of nuclear genetic origin.

Wolfgang Sperl (First author), P Jesina, J Zeman, Johannes A. Mayr (Co-author), L Demeirleir, R VanCoster, A Pícková, H Hansíková, H Houst"ková, Z Krejcík, Johannes Koch (Co-author), J Smet, Wolfgang Muss (Co-author), E Holme, J Houstek

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

56 Citations (Web of Science)

Original language	English
Pages (from-to)	821-829
Journal	NEUROMUSCULAR DISORDERS
Volume	16
Issue number	12
DOIs	https://doi.org/10.1016/j.nmd.2006.08.008
Publication status	Published - 2006

Keywords

3-METHYLGLUTACONIC ACIDURIA
OXIDATIVE-PHOSPHORYLATION
ASSEMBLY FACTORS
BARTH-SYNDROME
NARP MUTATION
DEFECTS
CARDIOLIPIN
DNA
F-1-ATPASE
MECHANISM

Access to Document

10.1016/j.nmd.2006.08.008

Cite this

Sperl, W., Jesina, P., Zeman, J., Mayr, J. A., Demeirleir, L., VanCoster, R., Pícková, A., Hansíková, H., Houst"ková, H., Krejcík, Z., Koch, J., Smet, J., Muss, W., Holme, E., & Houstek, J. (2006). Deficiency of mitochondrial ATP synthase of nuclear genetic origin. NEUROMUSCULAR DISORDERS , 16(12), 821-829. https://doi.org/10.1016/j.nmd.2006.08.008

Sperl, Wolfgang ; Jesina, P ; Zeman, J et al. / Deficiency of mitochondrial ATP synthase of nuclear genetic origin. In: NEUROMUSCULAR DISORDERS 2006 ; Vol. 16, No. 12. pp. 821-829.

@article{dd5a61cc61524d7e9f46bf9d4d8c3b0d,

title = "Deficiency of mitochondrial ATP synthase of nuclear genetic origin.",

keywords = "3-METHYLGLUTACONIC ACIDURIA, OXIDATIVE-PHOSPHORYLATION, ASSEMBLY FACTORS, BARTH-SYNDROME, NARP MUTATION, DEFECTS, CARDIOLIPIN, DNA, F-1-ATPASE, MECHANISM",

author = "Wolfgang Sperl and P Jesina and J Zeman and Mayr, {Johannes A.} and L Demeirleir and R VanCoster and A P{\'i}ckov{\'a} and H Hans{\'i}kov{\'a} and H Houst{"}kov{\'a} and Z Krejc{\'i}k and Johannes Koch and J Smet and Wolfgang Muss and E Holme and J Houstek",

note = "Sperl, Mayr, Koch: Department of Pediatrics, Paracelsus Private Medical University, Salzburg, Austria; Muss: Institute of Pathology, Paracelsus Private Medical University, Salzburg, Austria",

year = "2006",

doi = "10.1016/j.nmd.2006.08.008",

language = "English",

volume = "16",

pages = "821--829",

journal = "NEUROMUSCULAR DISORDERS ",

issn = "0960-8966",

publisher = "Elsevier ",

number = "12",

}

Sperl, W, Jesina, P, Zeman, J, Mayr, JA, Demeirleir, L, VanCoster, R, Pícková, A, Hansíková, H, Houst"ková, H, Krejcík, Z, Koch, J, Smet, J, Muss, W, Holme, E & Houstek, J 2006, 'Deficiency of mitochondrial ATP synthase of nuclear genetic origin.', NEUROMUSCULAR DISORDERS , vol. 16, no. 12, pp. 821-829. https://doi.org/10.1016/j.nmd.2006.08.008

Deficiency of mitochondrial ATP synthase of nuclear genetic origin. / Sperl, Wolfgang (First author); Jesina, P; Zeman, J et al.
In: NEUROMUSCULAR DISORDERS , Vol. 16, No. 12, 2006, p. 821-829.

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

TY - JOUR

T1 - Deficiency of mitochondrial ATP synthase of nuclear genetic origin.

AU - Sperl, Wolfgang

AU - Jesina, P

AU - Zeman, J

AU - Mayr, Johannes A.

AU - Demeirleir, L

AU - VanCoster, R

AU - Pícková, A

AU - Hansíková, H

AU - Houst"ková, H

AU - Krejcík, Z

AU - Koch, Johannes

AU - Smet, J

AU - Muss, Wolfgang

AU - Holme, E

AU - Houstek, J

N1 - Sperl, Mayr, Koch: Department of Pediatrics, Paracelsus Private Medical University, Salzburg, Austria; Muss: Institute of Pathology, Paracelsus Private Medical University, Salzburg, Austria

PY - 2006

Y1 - 2006

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - OXIDATIVE-PHOSPHORYLATION

KW - ASSEMBLY FACTORS

KW - BARTH-SYNDROME

KW - NARP MUTATION

KW - DEFECTS

KW - CARDIOLIPIN

KW - DNA

KW - F-1-ATPASE

KW - MECHANISM

U2 - 10.1016/j.nmd.2006.08.008

DO - 10.1016/j.nmd.2006.08.008

M3 - Original Article

C2 - 17052906

SN - 0960-8966

VL - 16

SP - 821

EP - 829

JO - NEUROMUSCULAR DISORDERS

JF - NEUROMUSCULAR DISORDERS

IS - 12

ER -

Sperl W, Jesina P, Zeman J, Mayr JA, Demeirleir L, VanCoster R et al. Deficiency of mitochondrial ATP synthase of nuclear genetic origin. NEUROMUSCULAR DISORDERS . 2006;16(12):821-829. doi: 10.1016/j.nmd.2006.08.008