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Publications by Maria João Santos
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
Related publications
Novel Mutation in the RNASEH1 Gene in a Chronic Progressive External Ophthalmoplegia Patient
Canadian Journal of Ophthalmology
Medicine
Ophthalmology
Chronic Progressive External Ophthalmoplegia
BMJ
Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia
Genome Biology
Impairment of Mitochondrial tRNAIle Processing by a Novel Mutation Associated With Chronic Progressive External Ophthalmoplegia
Mitochondrion
Molecular Medicine
Cell Biology
Molecular 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
Dyskeratosis Congenita With a Novel Genetic Variant in the DKC1 Gene: A Case Report
BMC Medical Genetics
Genetics
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
Orbital Magnetic Resonance Imaging of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia: Specific Diagnostic Findings
Journal of AAPOS
Child Health
Ophthalmology
Pediatrics
Perinatology
