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Publications by J.-M. Nuoffer
Impairment of Mitochondrial tRNAIle Processing by a Novel Mutation Associated With Chronic Progressive External Ophthalmoplegia
Mitochondrion
Molecular Medicine
Cell Biology
Molecular Biology
Related publications
Novel Mutation in the RNASEH1 Gene in a Chronic Progressive External Ophthalmoplegia Patient
Canadian Journal of Ophthalmology
Medicine
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Chronic Progressive External Ophthalmoplegia
BMJ
Mitochondrial tRNAIle A4317G Mutation May Be Associated With Hearing Impairment in a Han Chinese Family
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
Human Extraocular Muscles in Mitochondrial Diseases: Comparing Chronic Progressive External Ophthalmoplegia With Leber's Hereditary Optic Neuropathy
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia
Genome Biology
Multiple Deletions in Mitochondrial DNA in a Patient With Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism
Internal Medicine
Internal Medicine
Medicine
Dystonia in a Patient With Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
Movement Disorders Clinical Practice
Neurology
Disclosing the Functional Changes of Two Genetic Alterations in a Patient With Chronic Progressive External Ophthalmoplegia: Report of the Novel mtDNA M.7486G>A Variant
Neuromuscular Disorders
Child Health
Neurology
Pediatrics
Perinatology
Genetics
Orbital Magnetic Resonance Imaging of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia: Specific Diagnostic Findings
Journal of AAPOS
Child Health
Ophthalmology
Pediatrics
Perinatology
