Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)

(2012) Simona Cavalieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

(2011) Christian P. Schaaf et al.   MOLECULAR GENETICS AND METABOLISM

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

(2010) P. Yu-Wai-Man et al.   BRAIN

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

(2010) M. Synofzik et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

G domain dimerization controls dynamin's assembly-stimulated GTPase activity

(2010) Joshua S. Chappie et al.   NATURE

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Patrick Yu-Wai-Man et al.   OPHTHALMOLOGY

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

(2009) Lúcia Inês Macedo-Souza et al.   ANNALS OF HUMAN GENETICS

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

(2009) Marc Ferré et al.   HUMAN MUTATION

Prion mutation D178N with highly variable disease onset and phenotype

(2009) M Synofzik et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation

(2008) Yanli Ji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

(2008) Suma P. Shankar et al.   OPHTHALMIC GENETICS

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN