LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (Q39970753)

16 September 2017

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (English)

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16 September 2017

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30

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Sandra Jacinto

24

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Cristina Dallabona

Cristina Dallabona

1

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Anna Ardissone

Anna Ardissone

27

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Andrea Legati

Andrea Legati

5

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Daria Diodato

Daria Diodato

11

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Eleonora Lamantea

Eleonora Lamantea

13

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Paola Goffrini

Paola Goffrini

31

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Adeline Vanderver

Adeline Vanderver

19

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Daniele Ghezzi

Daniele Ghezzi

32

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Rosalba Carrozzo

Rosalba Carrozzo

3

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Carlo Dionisi-Vici

Carlo Dionisi-Vici

18

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Enrico Bertini

Enrico Bertini

34

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Mingyan Fang

Mingyan Fang

14

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Isabella Moroni

28

Isabella Moroni

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16 September 2017

10

Teresa Rizza

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16 September 2017

7

Marcello Niceta

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16 September 2017

16

Diego Martinelli

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16 September 2017

4

Alessandra Torraco

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16 September 2017

9

Daniela Verrigni

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16 September 2017

Carola G M van Berkel

6

Carola G M van Berkel

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16 September 2017

2

Truus E M Abbink

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33

Marjo S van der Knaap

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16 September 2017

Tiziana Langella

8

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16 September 2017

Jianguo Zhang

15

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16 September 2017

Elsa Bevivino

17

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16 September 2017

Sunny G Philip

20

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16 September 2017

Manju A Kurian

21

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16 September 2017

Ishwar C Verma

22

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16 September 2017

Sunita Bijarnia-Mahay

23

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16 September 2017

Fatima Furtado

25

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16 September 2017

Patrizia Accorsi

26

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Ileana Ferrero

29

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16 September 2017

language of work or name

English

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publication date

29 January 2016

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16 September 2017

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139

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782-794

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16 September 2017

Pt 3

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Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

16 September 2017

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mzm1 influences a labile pool of mitochondrial zinc important for respiratory function

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

The LYR protein Mzm1 functions in the insertion of the Rieske Fe/S protein in yeast mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

In vivo analysis of mtDNA replication defects in yeast.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Late-stage maturation of the Rieske Fe/S protein: Mzm1 stabilizes Rip1 but does not facilitate its translocation by the AAA ATPase Bcs1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Protease maturation of the Rieske iron-sulphur protein after its insertion into the mitochondrial cytochrome bc1 complex of Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mitochondrial dysfunction in central nervous system white matter disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Biogenesis of the cytochrome bc(1) complex and role of assembly factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV392

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWV392

1 reference

16 September 2017

1 reference