(Q52873752)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27102574%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

title

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia (English)

1 reference

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2 April 2020

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15

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2 April 2020

Marco Tartaglia

17

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2 April 2020

John Christodoulou

20

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2 April 2020

Marcello Niceta

6

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2 April 2020

Daria Diodato

11

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2 April 2020

Michela Di Nottia

12

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2 April 2020

Enza Maria Valente

18

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2 April 2020

Carlo Dionisi-Vici

19

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2 April 2020

Enrico Bertini

21

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2 April 2020

22

R Carrozzo

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2 April 2020

author name string

A Torraco

1

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2 April 2020

M Bianchi

2

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2 April 2020

D Verrigni

3

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2 April 2020

V Gelmetti

4

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2 April 2020

L Riley

5

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2 April 2020

D Martinelli

7

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2 April 2020

A Montanari

8

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2 April 2020

Y Guo

9

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2 April 2020

T Rizza

10

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2 April 2020

B Lucarelli

13

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2 April 2020

F Sorrentino

14

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2 April 2020

S Francisci

16

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2 April 2020

publication date

25 May 2016

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2 April 2020

1 reference

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2 April 2020

volume

91

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2 April 2020

issue

3

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2 April 2020

page(s)

441-447

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

2 April 2020

cites work

1 reference

Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits.

21 January 2018

1 reference

Proteins, polypeptides, prosthetic groups, and enzymic properties of complexes I, II, III, IV, and V of the mitochondrial oxidative phosphorylation system

21 January 2018

1 reference

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

21 January 2018

1 reference

Mitochondrial complex I deficiency of nuclear origin I. Structural genes

21 January 2018

1 reference

Molecular base of biochemical complex I deficiency.

21 January 2018

1 reference

Understanding mitochondrial complex I assembly in health and disease

21 January 2018

1 reference

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes

21 January 2018

1 reference

Haematological abnormalities in mitochondrial disorders

21 January 2018

1 reference

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

21 January 2018

1 reference

Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

21 January 2018

1 reference

The role of the ESSS protein in the assembly of a functional and stable mammalian mitochondrial complex I (NADH-ubiquinone oxidoreductase).

21 January 2018

1 reference

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

21 January 2018

1 reference

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels.

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

21 January 2018

1 reference

A long road towards the structure of respiratory complex I, a giant molecular proton pump

21 January 2018

1 reference

Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I

21 January 2018

1 reference

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

21 January 2018

1 reference

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

21 January 2018

1 reference

Sideroblastic anemia: diagnosis and management.

21 January 2018

1 reference

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

21 January 2018

1 reference

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

21 January 2018

1 reference

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

21 January 2018

1 reference

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

21 January 2018

1 reference

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

21 January 2018

1 reference

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12790

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27102574%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

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