Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Michael Zech; Robert Kopajtich; Katja Steinbrücker; Céline Bris; Naig Gueguen; René Feichtinger; Melanie Achleitner; Neslihan Duzkale; Maximilien Périvier; Johannes Koch; Harald Engelhardt; Peter Freisinger; Matias Wagner; Theresa Brunet; Riccardo Berutti; Dmitrii Smirnov; Tharsini Navaratnarajah; Richard J T Rodenburg; Lynn S Pais; Christina Austin-Tse; Melanie O"Leary; Sylvia Boesch; Robert Jech; Somayeh Bakhtiari; Sheng Chih Jin; Friederike Wilbert; Michael C Kruer; Saskia Wortmann; Matthias Eckenweiler; Johannes A. Mayr; Felix Distelmaier; Robert Steinfeld; Juliane Winkelmann; Holger Prokisch

doi:10.1002/ana.26293

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Michael Zech
, Robert Kopajtich
, Katja Steinbrücker (First author)
, Céline Bris
, Naig Gueguen
, René Feichtinger (Co-author)
, Melanie Achleitner (Co-author)
, Neslihan Duzkale
, Maximilien Périvier
, Johannes Koch (Co-author)
, Harald Engelhardt
, Peter Freisinger
, Matias Wagner
, Theresa Brunet
, Riccardo Berutti
, Dmitrii Smirnov
, Tharsini Navaratnarajah
, Richard J T Rodenburg
, Lynn S Pais
, Christina Austin-Tse

Melanie O"Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia Wortmann (Co-author), Matthias Eckenweiler, Johannes A. Mayr (Co-author), Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch

Department of Pediatrics

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

34 Citations (Web of Science)

Original language	English
Pages (from-to)	225-237
Journal	ANNALS OF NEUROLOGY
Volume	91
Issue number	2
DOIs	https://doi.org/10.1002/ana.26293
Publication status	Published - 2022

Keywords

MUTATIONS

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10.1002/ana.26293

Cite this

Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R., Achleitner, M., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R. J. T., Pais, L. S., ... Prokisch, H. (2022). Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. ANNALS OF NEUROLOGY , 91(2), 225-237. https://doi.org/10.1002/ana.26293

Zech, Michael ; Kopajtich, Robert ; Steinbrücker, Katja et al. / Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. In: ANNALS OF NEUROLOGY 2022 ; Vol. 91, No. 2. pp. 225-237.

@article{8edb97bb1d964efb85cc91fd5f4a1243,

title = "Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.",

keywords = "MUTATIONS",

author = "Michael Zech and Robert Kopajtich and Katja Steinbr{\"u}cker and C{\'e}line Bris and Naig Gueguen and Ren{\'e} Feichtinger and Melanie Achleitner and Neslihan Duzkale and Maximilien P{\'e}rivier and Johannes Koch and Harald Engelhardt and Peter Freisinger and Matias Wagner and Theresa Brunet and Riccardo Berutti and Dmitrii Smirnov and Tharsini Navaratnarajah and Rodenburg, \{Richard J T\} and Pais, \{Lynn S\} and Christina Austin-Tse and Melanie O{"}Leary and Sylvia Boesch and Robert Jech and Somayeh Bakhtiari and Jin, \{Sheng Chih\} and Friederike Wilbert and Kruer, \{Michael C\} and Saskia Wortmann and Matthias Eckenweiler and Mayr, \{Johannes A.\} and Felix Distelmaier and Robert Steinfeld and Juliane Winkelmann and Holger Prokisch",

note = "Steinbr{\"u}cker, Feichtinger, Achleitner, Koch, Wortmann, Mayr: University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Zech, Kopajtich, Steinbr{\"u}cker: contributed equally",

year = "2022",

doi = "10.1002/ana.26293",

language = "English",

volume = "91",

pages = "225--237",

journal = "ANNALS OF NEUROLOGY ",

issn = "0364-5134",

publisher = "Wiley Verlag ",

number = "2",

}

Zech, M, Kopajtich, R, Steinbrücker, K, Bris, C, Gueguen, N, Feichtinger, R, Achleitner, M, Duzkale, N, Périvier, M, Koch, J, Engelhardt, H, Freisinger, P, Wagner, M, Brunet, T, Berutti, R, Smirnov, D, Navaratnarajah, T, Rodenburg, RJT, Pais, LS, Austin-Tse, C, O"Leary, M, Boesch, S, Jech, R, Bakhtiari, S, Jin, SC, Wilbert, F, Kruer, MC, Wortmann, S, Eckenweiler, M, Mayr, JA, Distelmaier, F, Steinfeld, R, Winkelmann, J & Prokisch, H 2022, 'Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.', ANNALS OF NEUROLOGY , vol. 91, no. 2, pp. 225-237. https://doi.org/10.1002/ana.26293

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. / Zech, Michael; Kopajtich, Robert; Steinbrücker, Katja (First author) et al.
In: ANNALS OF NEUROLOGY , Vol. 91, No. 2, 2022, p. 225-237.

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

TY - JOUR

T1 - Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

AU - Zech, Michael

AU - Kopajtich, Robert

AU - Steinbrücker, Katja

AU - Bris, Céline

AU - Gueguen, Naig

AU - Feichtinger, René

AU - Achleitner, Melanie

AU - Duzkale, Neslihan

AU - Périvier, Maximilien

AU - Koch, Johannes

AU - Engelhardt, Harald

AU - Freisinger, Peter

AU - Wagner, Matias

AU - Brunet, Theresa

AU - Berutti, Riccardo

AU - Smirnov, Dmitrii

AU - Navaratnarajah, Tharsini

AU - Rodenburg, Richard J T

AU - Pais, Lynn S

AU - Austin-Tse, Christina

AU - O"Leary, Melanie

AU - Boesch, Sylvia

AU - Jech, Robert

AU - Bakhtiari, Somayeh

AU - Jin, Sheng Chih

AU - Wilbert, Friederike

AU - Kruer, Michael C

AU - Wortmann, Saskia

AU - Eckenweiler, Matthias

AU - Mayr, Johannes A.

AU - Distelmaier, Felix

AU - Steinfeld, Robert

AU - Winkelmann, Juliane

AU - Prokisch, Holger

N1 - Steinbrücker, Feichtinger, Achleitner, Koch, Wortmann, Mayr: University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Zech, Kopajtich, Steinbrücker: contributed equally

PY - 2022

Y1 - 2022

KW - MUTATIONS

U2 - 10.1002/ana.26293

DO - 10.1002/ana.26293

M3 - Original Article

C2 - 34954817

SN - 0364-5134

VL - 91

SP - 225

EP - 237

JO - ANNALS OF NEUROLOGY

JF - ANNALS OF NEUROLOGY

IS - 2

ER -

Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger R et al. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. ANNALS OF NEUROLOGY . 2022;91(2):225-237. doi: 10.1002/ana.26293