Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay

Nonsense-mediated decay in genetic disease: Friend or foe?

(2014) Jake N. Miller et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Nonsense-mediated mRNA decay: Inter-individual variability and human disease

(2013) Lam Son Nguyen et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

(2013) Kim M. Keeling et al.   PLoS One

Autosomal Dominant Hereditary Optic Neuropathy (ADOA): A Review of the Genetics and Clinical Manifestations of ADOA and ADOA+

(2013) P. M. Skidd et al.   Seminars in Ophthalmology

Gene Expression Regulation by Upstream Open Reading Frames and Human Disease

(2013) Cristina Barbosa et al.   PLoS Genetics

Dominant optic atrophy

(2012) Guy Lenaers et al.   Orphanet Journal of Rare Diseases

Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families

(2011) Michela Ranieri et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

(2010) Nico Fuhrmann et al.   Molecular Neurodegeneration

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations

(2009) Marc Ferré et al.   HUMAN MUTATION

Plant upstream ORFs can trigger nonsense-mediated mRNA decay in a size-dependent manner

(2009) Tünde Nyikó et al.   PLANT MOLECULAR BIOLOGY

Comprehensive cDNA study and quantitative transcript analysis of mutantOPA1transcripts containing premature termination codons

(2007) Simone Schimpf et al.   HUMAN MUTATION