Mutation spectrum and splicing variants in the OPA1 gene

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Organization and Expression of Eucaryotic Split Genes Coding for Proteins

1981 • 4,730 citations

Predicting Coiled Coils from Protein Sequences

1991 • 3,977 citations

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

2000 • 1,370 citations

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

2000 • 1,269 citations

Nomenclature for the description of human sequence variations

2001 • 914 citations

Dynamin and Its Role in Membrane Fission

2000 • 689 citations

The Dynamin-related GTPase, Dnm1p, Controls Mitochondrial Morphology in Yeast

1998 • 416 citations

Differential Distribution of Dynamin Isoforms in Mammalian Cells

1998 • 395 citations

The dynamin family of mechanoenzymes: pinching in new places

2000 • 345 citations

Alternative Splicing of Agrin Alters Its Binding to Heparin, Dystroglycan, and the Putative Agrin Receptor

1996 • 223 citations

Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.

1959 • 185 citations

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

2001 • 185 citations

HISTOPATHOLOGY OF EYE, OPTIC NERVE AND BRAIN IN A CASE OF DOMINANT OPTIC ATROPHY

1983 • 182 citations

Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic Atrophy

1998 • 175 citations

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

2001 • 174 citations

Dominant optic atrophy mapped to chromosome 3q region

1996 • 169 citations

Autosomal Dominant Optic Atrophy

1980 • 145 citations

A Model for Dynamin Self-assembly Based on Binding Between Three Different Protein Domains

1999 • 133 citations

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

1998 • 128 citations

Genetic Heterogeneity of Dominant Optic Atrophy, Kjer Type

1999 • 109 citations

Identification of a Fission Yeast Dynamin-Related Protein Involved in Mitochondrial DNA Maintenance

1998 • 81 citations

Multiple Distinct Coiled-coils Are Involved in Dynamin Self-assembly

1999 • 74 citations

Fission yeast msp1 is a mitochondrial dynamin-related protein

1999 • 66 citations

Clinical and Genetic Analysis of a Family Affected With Dominant Optic Atrophy (OPA1)

1997 • 62 citations

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

1997 • 60 citations

Leber Hereditary Optic Neuropathy

1995 • 59 citations

Linkage analysis in dominant optic atrophy.

1983 • 57 citations

DIAGNOSTIC CRITERIA IN DOMINANTLY INHERITED JUVENILE OPTIC ATROPHY A REPORT OF THREE NEW FAMILIES

1972 • 54 citations

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

1997 • 35 citations

No evidence of genetic heterogeneity in dominant optic atrophy.

1995 • 33 citations

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method

1998 • 32 citations

Dominant Optic Atrophy, Kjer Type

1997 • 30 citations

Diagnosis of dominant infantile optic atrophy in early childhood

1988 • 16 citations

Deleted Work

1955 • 0 citations