LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Maja Hempel; Laura S Kremer; Konstantinos Tsiakas; Bader Alhaddad; Tobias B Haack; Ulrike Löbel; René Feichtinger; Wolfgang Sperl; Holger Prokisch; Johannes A. Mayr; René Santer

doi:10.1016/j.mito.2017.07.001

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Maja Hempel
, Laura S Kremer
, Konstantinos Tsiakas
, Bader Alhaddad
, Tobias B Haack
, Ulrike Löbel
, René Feichtinger (Co-author)
, Wolfgang Sperl (Co-author)
, Holger Prokisch
, Johannes A. Mayr (Last author)
, René Santer

Department of Pediatrics

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

22 Citations (Web of Science)

Original language	English
Pages (from-to)	55-61
Journal	MITOCHONDRION
Volume	37
DOIs	https://doi.org/10.1016/j.mito.2017.07.001
Publication status	Published - 2017

Keywords

MITOCHONDRIAL DISEASE
I DEFICIENCY
MUTATIONS
DNA
LEUKOENCEPHALOPATHY
ENCEPHALOPATHY
LYRM7/MZM1L
BCS1L

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10.1016/j.mito.2017.07.001

Mitochondriopathy – Network for diagnostics and therapy (GENOMIT)
Sperl, W. (PI)
1/02/12 → 1/02/15
Project: Research

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@article{a0cf05b847094b8982d69ef075448a45,

title = "LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.",

keywords = "MITOCHONDRIAL DISEASE, I DEFICIENCY, MUTATIONS, DNA, LEUKOENCEPHALOPATHY, ENCEPHALOPATHY, LYRM7/MZM1L, BCS1L",

author = "Maja Hempel and Kremer, \{Laura S\} and Konstantinos Tsiakas and Bader Alhaddad and Haack, \{Tobias B\} and Ulrike L{\"o}bel and Ren{\'e} Feichtinger and Wolfgang Sperl and Holger Prokisch and Mayr, \{Johannes A.\} and Ren{\'e} Santer",

note = "Feichtinger, Sperl, Mayr: Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria; Mayr \& Santer: These authors contributed equally to this work.",

year = "2017",

doi = "10.1016/j.mito.2017.07.001",

language = "English",

volume = "37",

pages = "55--61",

journal = "MITOCHONDRION",

issn = "1567-7249",

publisher = "Elsevier ",

}

TY - JOUR

T1 - LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

AU - Hempel, Maja

AU - Kremer, Laura S

AU - Tsiakas, Konstantinos

AU - Alhaddad, Bader

AU - Haack, Tobias B

AU - Löbel, Ulrike

AU - Feichtinger, René

AU - Sperl, Wolfgang

AU - Prokisch, Holger

AU - Mayr, Johannes A.

AU - Santer, René

N1 - Feichtinger, Sperl, Mayr: Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria; Mayr & Santer: These authors contributed equally to this work.

PY - 2017

Y1 - 2017

KW - MITOCHONDRIAL DISEASE

KW - I DEFICIENCY

KW - MUTATIONS

KW - DNA

KW - LEUKOENCEPHALOPATHY

KW - ENCEPHALOPATHY

KW - LYRM7/MZM1L

KW - BCS1L

U2 - 10.1016/j.mito.2017.07.001

DO - 10.1016/j.mito.2017.07.001

M3 - Original Article

C2 - 28694194

SN - 1567-7249

VL - 37

SP - 55

EP - 61

JO - MITOCHONDRION

JF - MITOCHONDRION

ER -

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Keywords

Access to Document

Projects

Mitochondriopathy – Network for diagnostics and therapy (GENOMIT)

Cite this