Marcela Votruba

Guidelines for the use and interpretation of assays for monitoring autophagy

Daniel J. Klionsky, Fábio Camargo Abdalla, Hagai Abeliovich et al. · Autophagy · 2012 · 4K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +10

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, Georges Rawadi et al. · Cell · 2001 · 2.2K citations · Full text

Medicine, Developmental Biology, Endocrinology +10

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Christiane Alexander, Marcela Votruba, Ulrike E. A. Pesch et al. · Nature Genetics · 2000 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +9

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

Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman et al. · Brain · 2010 · 447 citations · Full text

Medicine, Genetics, Neurology +16

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

Vanessa Davies, Andrew J. Hollins, Małgorzata Piechota et al. · Human Molecular Genetics · 2007 · 442 citations · Full text

Life Sciences, Genetics, Neuroscience +17