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A Novel Heteroplasmic tRNASer(UCN) mtDNA Point Mutation Associated With Progressive Ophthalmoplegia and Dysphagia
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DIAGNOSTIC MOLECULAR PATHOLOGY (2010)
Role of the Mitochondrial Mutations, m. 827A>G and the Novel m. 7462C>T, in the Origin of Hearing Loss
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GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)
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HUMAN MOLECULAR GENETICS (2008)
Mutations at position 7445 in the precursor of mitochondrial tRNASer(UCN) gene in three maternal Chinese pedigrees with sensorineural hearing loss
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BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss
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NEUROMUSCULAR DISORDERS (2007)
Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNA Ser(UCN) genes in two Chinese families
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BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
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JOURNAL OF CHILD NEUROLOGY (2006)
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NEUROMUSCULAR DISORDERS (2006)
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNASer(UCN)supercript stop gene
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ACTA NEUROPATHOLOGICA (2005)
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NEUROMUSCULAR DISORDERS (2005)
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MOLECULAR GENETICS AND METABOLISM (2005)
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EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
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NEUROMUSCULAR DISORDERS (2004)
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome
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Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene
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Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G > A mutation in the tRNA(Ser(UCN)) gene
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JOURNAL OF INHERITED METABOLIC DISEASE (2003)
The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover
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JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment
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JOURNAL OF MEDICAL GENETICS (2001)
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome
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BRITISH JOURNAL OF DERMATOLOGY (2000)
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment
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