Metabolic stroke in a patient with bi-allelic OPA1 mutations

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

(2018) Shira Sagie et al.   BRAIN

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease

(2018) Rebecca D. Ganetzky et al.   MOLECULAR GENETICS AND METABOLISM

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1

(2017) Anna Rubegni et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Understanding the Epilepsy in POLG Related Disease

(2017) Omar Hikmat et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

(2017) Alessia Nasca et al.   Orphanet Journal of Rare Diseases

Dominant Optic Atrophy and Leber’s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches

(2017) Bo Young Chun et al.   Seminars in Pediatric Neurology

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

(2016) Juan Manuel Chao de la Barca et al.   NEUROBIOLOGY OF DISEASE

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

(2016) Chunyan Liao et al.   NEUROLOGY

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygousOPA1mutation

(2015) Ronen Spiegel et al.   JOURNAL OF MEDICAL GENETICS

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

(2015) Agathe Roubertie et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

(2014) Dominique Bonneau et al.   BRAIN

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

(2014) T. Bonifert et al.   BRAIN

‘Behr syndrome’ with OPA1 compound heterozygote mutations

(2014) Valerio Carelli et al.   BRAIN

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

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

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

(2009) Valerio Carelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

OPA1-associated disorders: Phenotypes and pathophysiology

(2009) Patrizia Amati-Bonneau et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY