(Q35577120)

8 August 2017

title

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

1 reference

8 August 2017

Johannes A Mayr

13

0 references

Holger Prokisch

object named as

Holger Prokisch

10

0 references

author name string

Johannes Koch

1

1 reference

8 August 2017

Peter Freisinger

2

1 reference

8 August 2017

René G Feichtinger

3

1 reference

8 August 2017

Franz A Zimmermann

4

1 reference

8 August 2017

Christian Rauscher

5

1 reference

8 August 2017

Hans P Wagentristl

6

1 reference

8 August 2017

Vassiliki Konstantopoulou

7

1 reference

8 August 2017

Rainer Seidl

8

1 reference

8 August 2017

Tobias B Haack

9

1 reference

8 August 2017

Uwe Ahting

11

1 reference

8 August 2017

Wolfgang Sperl

12

1 reference

8 August 2017

Esther M Maier

14

1 reference

8 August 2017

publication date

2 April 2015

1 reference

Orphanet Journal of Rare Diseases

8 August 2017

published in

1 reference

8 August 2017

volume

10

1 reference

8 August 2017

page(s)

40

1 reference

Creative Commons Attribution 4.0 International

8 August 2017

copyright license

start time

2 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation

1 reference

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A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.

12 July 2018

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Long survival in Leigh syndrome: new cases and review of literature

12 July 2018

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A multicenter study on Leigh syndrome: disease course and predictors of survival

12 July 2018

1 reference

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Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome

12 July 2018

1 reference

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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

Organizing principles of mammalian nonsense-mediated mRNA decay

12 July 2018

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Diffusion tensor imaging in a child with hypertrophic olivary degeneration

12 July 2018

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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

12 July 2018

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Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

12 July 2018

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Hypertrophic olivary degeneration in children: four new cases and a review of the literature with an emphasis on the MRI findings

12 July 2018

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Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study

12 July 2018

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Red nucleus degeneration in hypertrophic olivary degeneration after pediatric posterior fossa tumor resection: use of susceptibility-weighted imaging (SWI).

12 July 2018

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

12 July 2018

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

12 July 2018

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MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

12 July 2018

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Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease

12 July 2018

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Hypertrophic olivary degeneration: case report in a child

12 July 2018

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Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences

12 July 2018

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Necrotizing Encephalomyelopathy of Leigh: Neuropathological Findings in 8 Cases

12 July 2018

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12 July 2018

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Alterations of oxidative phosphorylation complexes in astrocytomas.

12 July 2018

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Hypertrophic olivary degeneration with gadolinium enhancement after posterior fossa surgery in a child with medulloblastoma.

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase

26 September 2018

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Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

Severe depletion of mitochondrial DNA in spinal muscular atrophy

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422538

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

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-015-0254-5

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-015-0254-5

Biochemical and molecular investigations in respiratory chain deficiencies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25887401

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-015-0254-5

1 reference

Dimensions Publication ID

8 August 2017

0 references

1 reference

8 August 2017

1 reference