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

issue

2

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27 February 2020

page(s)

153-160

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The autosomal recessive cerebellar ataxias

27 February 2020

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

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Respiratory-chain diseases related to complex III deficiency

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Clinical and molecular findings in children with complex I deficiency

21 January 2018

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Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

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

21 January 2018

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Autosomal recessive ataxias: 20 types, and counting

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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

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

21 January 2018

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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

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

21 January 2018

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Human mitochondrial DNA: roles of inherited and somatic mutations

21 January 2018

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The mitochondrial genome and psychiatric illness

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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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