Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency (Q56687739)

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27 February 2020

title

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

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27 February 2020

1

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27 February 2020

Maria José Sá

3

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27 February 2020

Luisa Azevedo

4

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27 February 2020

Ricardo Taipa

5

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27 February 2020

Claudia Nesti

9

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27 February 2020

Rosalba Carrozzo

12

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27 February 2020

Manuel Melo Pires

13

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27 February 2020

Laura Vilarinho

14

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27 February 2020

Filippo Maria Santorelli

15

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27 February 2020

author name string

José Barros

2

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27 February 2020

Alessandra Torraco

6

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27 February 2020

Maria Chiara Meschini

7

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27 February 2020

Daniela Verrigni

8

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27 February 2020

Teresa Rizza

10

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27 February 2020

João Teixeira

11

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27 February 2020

publication date

28 March 2013

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27 February 2020

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27 February 2020

volume

14

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27 February 2020

page(s)

153-160

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27 February 2020

issue

2

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https://scigraph.springernature.com/pub.10.1007/s10048-013-0361-1

27 February 2020

exact match

0 references

cites work

The autosomal recessive cerebellar ataxias

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Autosomal recessive cerebellar ataxias: the current state of affairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

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/10.1007%2FS10048-013-0361-1

Historical perspective on mitochondrial medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Respiratory-chain diseases related to complex III deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Mitochondrial encephalomyopathies: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Autosomal recessive ataxias: 20 types, and counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Human mitochondrial DNA: roles of inherited and somatic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

The mitochondrial genome and psychiatric illness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0361-1

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23532514

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Electrophoretic techniques for isolation and quantification of oxidative phosphorylation complexes from human tissues

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23532514

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-013-0361-1

1 reference

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27 February 2020

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