Leigh Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses.
|
29481804 |
2018 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fifteen SURF1 mutations were identified in 12 Leigh syndrome patients, of which three, c.465_466delAA, c.532A > T, and c.826_827ins AGCATCTGCAGTACATCG, were newly described.
|
29933018 |
2018 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses.
|
29481804 |
2018 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in SURF1, a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS.
|
29601977 |
2018 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
|
29933018 |
2018 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SURF1, a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS.
|
29601977 |
2018 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.
|
27756633 |
2016 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Presence of demyelinating neuropathy in Leigh's syndrome may suggest underlying SURF1 mutations.
|
26762927 |
2016 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.
|
27756633 |
2016 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.
|
27756633 |
2016 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SURF1 gene mutations cause a severe COX deficiency manifesting as the Leigh syndrome in humans, whereas in mice SURF1(-/-) knockout leads only to a mild COX defect.
|
26804654 |
2016 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.
|
26341968 |
2015 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with LS underwent genotyping for the whole genome of mitochondrial DNA and SURF1 mutations.
|
25351680 |
2015 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.
|
25629267 |
2014 |
Leigh Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We conclude that Surf1 is essential for COX activity and mitochondrial function in D. melanogaster, thus providing a new tool that may help clarify the pathogenic mechanisms of LS.
|
25164807 |
2014 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We conclude that Surf1 is essential for COX activity and mitochondrial function in D. melanogaster, thus providing a new tool that may help clarify the pathogenic mechanisms of LS.
|
25164807 |
2014 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The study included four patients with Leigh syndrome and SURF1 mutations identified from a cohort of 25 children with Leigh syndrome seen over a period of six years (2006-2012).
|
24262866 |
2014 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
|
24462369 |
2014 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.
|
27896082 |
2014 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
|
24027061 |
2013 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
SURF1 deficiency: a multi-centre natural history study.
|
23829769 |
2013 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We discuss the brain MR imaging findings in these three cases along with a literature review on the MR features of previously reported cases of patients with POLG gene mutations and Leigh disease due to SURF1 gene mutations.
|
22729384 |
2013 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SURF1 deficiency: a multi-centre natural history study.
|
23829769 |
2013 |