Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

(2017) Andrea Markovinovic et al.   PROGRESS IN NEUROBIOLOGY

OPTN691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes

(2016) Orly Goldstein et al.   NEUROLOGY

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

(2015) Emma Beeldman et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Screening for cognition and behaviour changes in ALS

(2013) Sharon Abrahams et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

(2012) Jochen H. Weishaupt et al.   NEUROBIOLOGY OF AGING

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

(2011) Zeynep Tümer et al.   NEUROBIOLOGY OF AGING

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE