Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

CL Alston; MT Veling; J Heidler; LS Taylor; L He; A Broomfield; J Pavaine; H Prokisch; Saskia Wortmann; PE Bonnen; R McFarland; I Wittig; DJ Pagliarini; RW Taylor

Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

CL Alston, MT Veling, J Heidler, LS Taylor, L He, A Broomfield, J Pavaine, H Prokisch, Saskia Wortmann, PE Bonnen, R McFarland, I Wittig, DJ Pagliarini, RW Taylor

Department of Pediatrics

Research output: Contribution to journal › published Abstract (Journal) › peer-review

Original language	English
Pages (from-to)	182-183
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	27
Publication status	Published - 2019
Event	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milan, ITALY Duration: 16 Jun 2018 → 19 Jun 2018

Cite this

Alston, CL., Veling, MT., Heidler, J., Taylor, LS., He, L., Broomfield, A., Pavaine, J., Prokisch, H., Wortmann, S., Bonnen, PE., McFarland, R., Wittig, I., Pagliarini, DJ., & Taylor, RW. (2019). Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. EUROPEAN JOURNAL OF HUMAN GENETICS , 27, 182-183.

Alston, CL ; Veling, MT ; Heidler, J et al. / Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2019 ; Vol. 27. pp. 182-183.

@article{c5fd089c3edf412faa6bb9fe1bf12cbb,

title = "Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency",

author = "CL Alston and MT Veling and J Heidler and LS Taylor and L He and A Broomfield and J Pavaine and H Prokisch and Saskia Wortmann and PE Bonnen and R McFarland and I Wittig and DJ Pagliarini and RW Taylor",

year = "2019",

language = "English",

volume = "27",

pages = "182--183",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

note = "51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) ; Conference date: 16-06-2018 Through 19-06-2018",

}

Alston, CL, Veling, MT, Heidler, J, Taylor, LS, He, L, Broomfield, A, Pavaine, J, Prokisch, H, Wortmann, S, Bonnen, PE, McFarland, R, Wittig, I, Pagliarini, DJ & Taylor, RW 2019, 'Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 27, pp. 182-183.

Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. / Alston, CL; Veling, MT; Heidler, J et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 27, 2019, p. 182-183.

Research output: Contribution to journal › published Abstract (Journal) › peer-review

TY - JOUR

T1 - Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

AU - Alston, CL

AU - Veling, MT

AU - Heidler, J

AU - Taylor, LS

AU - He, L

AU - Broomfield, A

AU - Pavaine, J

AU - Prokisch, H

AU - Wortmann, Saskia

AU - Bonnen, PE

AU - McFarland, R

AU - Wittig, I

AU - Pagliarini, DJ

AU - Taylor, RW

PY - 2019

Y1 - 2019

M3 - published Abstract (Journal)

SN - 1018-4813

VL - 27

SP - 182

EP - 183

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

T2 - 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Y2 - 16 June 2018 through 19 June 2018

ER -

Alston CL, Veling MT, Heidler J, Taylor LS, He L, Broomfield A et al. Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. EUROPEAN JOURNAL OF HUMAN GENETICS . 2019;27:182-183.