Bilateral visual loss secondary to inherited optic neuropathies is an important cause of
registrable blindness among children and young adults. The two prototypal disorders seen in …

Mitochondrial optic neuropathies constitute an important cause of chronic visual morbidity
and registrable blindness in both the paediatric and adult population. It is a genetically …

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy
resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal …

… M Votruba AT Moore Correspondence to: Miss Votruba. … 62 Stoilova D, Child A, DesaiSP,
Sarfarazi M. Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM …

OPA1 is a ubiquitously expressed, nuclear dynamin-related GTPase, targeted to the inner
mitochondrial membrane, which plays a role in mitochondrial fusion. Mutations in the OPA1 …

KS 0, Λ, Ξ, Ω and negative particle h− yields and transverse mass spectra, measured at
central rapidity in p-Pb and Pb-Pb collisions at 158 A GeV/c, are presented and discussed. …

Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …

Using Norwegian register data, we estimate how children's school performance is affected
by their parents' exposure to plant closure. Our estimates suggest that paternal job loss has a …

… In Cebul, Herschman, Rebitzer, Taylor, and Votruba (2007), we report annual exit rates above
… In Cebul, Herschman, Rebitzer, Taylor, and Votruba (2007), we provide estimates of the …