Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementSOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesisGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsSyndromic parkinsonism and dementia associated with OPA1 missense mutationsMitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg LecturePeripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaRhabdomyolysis: a genetic perspective.Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.The clinical maze of mitochondrial neurologyGastrointestinal and hepatic manifestations of mitochondrial disorders.Mitochondrial fusion proteins and human diseases.Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.Myopathology of Adult and Paediatric Mitochondrial Diseases.MtDNA-maintenance defects: syndromes and genes.Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.Deoxyribonucleotide Triphosphate Metabolism in Cancer and Metabolic Disease.Mitochondrial DNA depletion syndrome causing liver failure.Mitochondrial Depletion Syndromes in Children and AdultsDeoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
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P2860
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
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2012 nî lūn-bûn
@nan
2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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2012年學術文章
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name
Next-generation sequencing rev ...... ndrial DNA multiple deletions.
@ast
Next-generation sequencing rev ...... ndrial DNA multiple deletions.
@en
type
label
Next-generation sequencing rev ...... ndrial DNA multiple deletions.
@ast
Next-generation sequencing rev ...... ndrial DNA multiple deletions.
@en
prefLabel
Next-generation sequencing rev ...... ndrial DNA multiple deletions.
@ast
Next-generation sequencing rev ...... ndrial DNA multiple deletions.
@en
P2093
P2860
P50
P356
P1433
P1476
Next-generation sequencing rev ...... ndrial DNA multiple deletions.
@en
P2093
Luisa Villa
Mafalda Rizzuti
Michela Ranieri
Purificacion Gutierrez Rios
Sarah E Calvo
Vamsi K Mootha
P2860
P304
P356
10.1093/BRAIN/AWS258
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P50
P577
2012-10-04T00:00:00Z