Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Charlotte L Alston; Juliana Heidler; Marris G Dibley; Laura S Kremer; Lucie S Taylor; Carl Fratter; Courtney E French; Ruth I C Glasgow; René Feichtinger; Isabelle Delon; Alistair T Pagnamenta; Helen Dolling; Hugh Lemonde; Neil Aiton; Alf Bjørnstad; Lisa Henneke; Jutta Gärtner; Holger Thiele; Katerina Tauchmannova; Gerardine Quaghebeur; Josef Houstek; Wolfgang Sperl; F Lucy Raymond; Holger Prokisch; Johannes A. Mayr; Robert McFarland; Joanna Poulton; Michael T Ryan; Ilka Wittig; Marco Henneke; Robert W Taylor

doi:10.1016/j.ajhg.2018.08.013

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Charlotte L Alston, Juliana Heidler, Marris G Dibley, Laura S Kremer, Lucie S Taylor, Carl Fratter, Courtney E French, Ruth I C Glasgow, René Feichtinger (Co-author), Isabelle Delon, Alistair T Pagnamenta, Helen Dolling, Hugh Lemonde, Neil Aiton, Alf Bjørnstad, Lisa Henneke, Jutta Gärtner, Holger Thiele, Katerina Tauchmannova, Gerardine QuaghebeurJosef Houstek, Wolfgang Sperl (Co-author), F Lucy Raymond, Holger Prokisch, Johannes A. Mayr (Co-author), Robert McFarland, Joanna Poulton, Michael T Ryan, Ilka Wittig, Marco Henneke, Robert W Taylor

Department of Pediatrics

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

38 Citations (Web of Science)

Original language	English
Pages (from-to)	592-601
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	103
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2018.08.013
Publication status	Published - 2018

Keywords

ASSEMBLY FACTOR TMEM126B
HYPERTROPHIC CARDIOMYOPATHY
BIALLELIC MUTATIONS
POLYACRYLAMIDE-GELS
MOLECULAR PATHOLOGY
CLINICAL PHENOTYPE
VARIANTS
DISEASE
DIAGNOSIS
PROTEINS

Access to Document

10.1016/j.ajhg.2018.08.013

Cite this

Alston, C. L., Heidler, J., Dibley, M. G., Kremer, L. S., Taylor, L. S., Fratter, C., French, C. E., Glasgow, R. I. C., Feichtinger, R., Delon, I., Pagnamenta, A. T., Dolling, H., Lemonde, H., Aiton, N., Bjørnstad, A., Henneke, L., Gärtner, J., Thiele, H., Tauchmannova, K., ... Taylor, R. W. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. AMERICAN JOURNAL OF HUMAN GENETICS , 103(4), 592-601. https://doi.org/10.1016/j.ajhg.2018.08.013

Alston, Charlotte L ; Heidler, Juliana ; Dibley, Marris G et al. / Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. In: AMERICAN JOURNAL OF HUMAN GENETICS 2018 ; Vol. 103, No. 4. pp. 592-601.

@article{4246291d444f4a3595db780ac1962a8b,

title = "Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.",

keywords = "ASSEMBLY FACTOR TMEM126B, HYPERTROPHIC CARDIOMYOPATHY, BIALLELIC MUTATIONS, POLYACRYLAMIDE-GELS, MOLECULAR PATHOLOGY, CLINICAL PHENOTYPE, VARIANTS, DISEASE, DIAGNOSIS, PROTEINS",

author = "Alston, {Charlotte L} and Juliana Heidler and Dibley, {Marris G} and Kremer, {Laura S} and Taylor, {Lucie S} and Carl Fratter and French, {Courtney E} and Glasgow, {Ruth I C} and Ren{\'e} Feichtinger and Isabelle Delon and Pagnamenta, {Alistair T} and Helen Dolling and Hugh Lemonde and Neil Aiton and Alf Bj{\o}rnstad and Lisa Henneke and Jutta G{\"a}rtner and Holger Thiele and Katerina Tauchmannova and Gerardine Quaghebeur and Josef Houstek and Wolfgang Sperl and Raymond, {F Lucy} and Holger Prokisch and Mayr, {Johannes A.} and Robert McFarland and Joanna Poulton and Ryan, {Michael T} and Ilka Wittig and Marco Henneke and Taylor, {Robert W}",

note = "Feichtinger, Sperl, Mayr: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria",

year = "2018",

doi = "10.1016/j.ajhg.2018.08.013",

language = "English",

volume = "103",

pages = "592--601",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

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}

Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, R, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M & Taylor, RW 2018, 'Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 103, no. 4, pp. 592-601. https://doi.org/10.1016/j.ajhg.2018.08.013

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. / Alston, Charlotte L; Heidler, Juliana; Dibley, Marris G et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 103, No. 4, 2018, p. 592-601.

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

TY - JOUR

T1 - Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

AU - Alston, Charlotte L

AU - Heidler, Juliana

AU - Dibley, Marris G

AU - Kremer, Laura S

AU - Taylor, Lucie S

AU - Fratter, Carl

AU - French, Courtney E

AU - Glasgow, Ruth I C

AU - Feichtinger, René

AU - Delon, Isabelle

AU - Pagnamenta, Alistair T

AU - Dolling, Helen

AU - Lemonde, Hugh

AU - Aiton, Neil

AU - Bjørnstad, Alf

AU - Henneke, Lisa

AU - Gärtner, Jutta

AU - Thiele, Holger

AU - Tauchmannova, Katerina

AU - Quaghebeur, Gerardine

AU - Houstek, Josef

AU - Sperl, Wolfgang

AU - Raymond, F Lucy

AU - Prokisch, Holger

AU - Mayr, Johannes A.

AU - McFarland, Robert

AU - Poulton, Joanna

AU - Ryan, Michael T

AU - Wittig, Ilka

AU - Henneke, Marco

AU - Taylor, Robert W

N1 - Feichtinger, Sperl, Mayr: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria

PY - 2018

Y1 - 2018

KW - ASSEMBLY FACTOR TMEM126B

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - BIALLELIC MUTATIONS

KW - POLYACRYLAMIDE-GELS

KW - MOLECULAR PATHOLOGY

KW - CLINICAL PHENOTYPE

KW - VARIANTS

KW - DISEASE

KW - DIAGNOSIS

KW - PROTEINS

U2 - 10.1016/j.ajhg.2018.08.013

DO - 10.1016/j.ajhg.2018.08.013

M3 - Original Article (Journal)

C2 - 30245030

SN - 0002-9297

VL - 103

SP - 592

EP - 601

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 4

ER -

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C et al. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. AMERICAN JOURNAL OF HUMAN GENETICS . 2018;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013