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

Targeted disruption of mammalian hairy and Enhancer of split homolog-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects.

1995 • 702 citations

Handbook of human genetic linkage

1995 • 591 citations

The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons

1995 • 403 citations

DIABETES MELLITUS AND SIMPLE OPTIC ATROPHY AMONG SIBLINGS: REPORT OF FOUR CASES

1938 • 338 citations

POU domain factor Brn-3b is required for the development of a large set of retinal ganglion cells.

1996 • 336 citations

Mammalian hairy and Enhancer of Split Homolog 1 Regulates Differentiation of Retinal Neurons and Is Essential for Eye Morphogenesis

1996 • 322 citations

Magnetic resonance imaging of the optic nerve in optic neuritis

1988 • 231 citations

Heredity in Ophthalmology.

1959 • 221 citations

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

1959 • 185 citations

Significance of abnormal pattern electroretinography in anterior visual pathway dysfunction.

1987 • 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

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

1979 • 172 citations

Dominant optic atrophy mapped to chromosome 3q region

1996 • 169 citations

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis

1994 • 150 citations

Autosomal Dominant Optic Atrophy

1980 • 145 citations

Dominant Optic Atrophy

1979 • 130 citations

Localised wedge shaped defects of the retinal nerve fibre layer in glaucoma.

1994 • 121 citations

Transcription factor genes and the developing eye: a genetic perspective

1996 • 118 citations

Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve

1997 • 102 citations

Mendelian Inheritance in Man

1993 • 94 citations

Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

1993 • 90 citations

Kearns-Sayre syndrome and complex II deficiency

1989 • 77 citations

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter.

1998 • 76 citations

Adenosine triphosphate deficiency

1995 • 68 citations

Magnetic resonance imaging in Leber's optic neuropathy.

1989 • 67 citations

A rat gene with sequence homology to the Drosophila gene hairy is rapidly induced by growth factors known to influence neuronal differentiation.

1993 • 64 citations

A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome

1997 • 64 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

Electrophysiological discrimination between retinal and optic nerve disorders

1988 • 56 citations

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

1972 • 54 citations

High resolution magnetic resonance imaging of the anterior visual pathway in patients with optic neuropathies using fast spin echo and phased array local coils.

1995 • 52 citations

Molecular biology of retinal ganglion cells.

1996 • 50 citations

Differential display detects altered gene expression between cataractous and normal human lenses.

1998 • 47 citations

Electrophysiology and colour perimetry in dominant infantile optic atrophy.

1991 • 47 citations

Optic Atrophy, Neural Deafness, and Distal Neurogenic Amyotrophy

1970 • 44 citations

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO)

1985 • 38 citations

Genomic Cloning and Chromosomal Localization of HRY, the Human Homolog to the Drosophila Segmentation Gene, hairy

1994 • 38 citations

The investigation of respiratory chain disorders in heart using endomyocardial biopsies

1993 • 37 citations

Similarities between Congenital Tritan Defects and Dominant Optic-Nerve Atrophy: Coincidence or Identity?*

1970 • 36 citations

Dominant Congenital Deafness and Progressive Optic Nerve Atrophy

1974 • 36 citations

Colour discrimination ellipses in patients with dominant optic atrophy

1998 • 36 citations

Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, and Myopathy

1984 • 35 citations

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

1997 • 35 citations

Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig

1996 • 35 citations

Dominant Juvenile Optic Atrophy

1971 • 34 citations

HEREDITARY OPTIC ATROPHY WITH DOMINANT TRANSMISSION

2009 • 34 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

MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy

2000 • 28 citations

Single Muscle Fibre Analyses in 2 Brothers with Succinate Dehydrogenase Deficiency

1994 • 28 citations

HEREDITARY OPTIC ATROPHY WITH DOMINANT TRANSMISSION AND EARLY ONSET

1941 • 27 citations

Mapping the Bst mutation on mouse Chromosome 16: a model for human optic atrophy

1995 • 26 citations

Decreased retinal ganglion cell number and misdirected axon growth associated with fissure defects in Bst/+ mutant mice.

1997 • 24 citations

Dominant Hereditary Optic Atrophy with Bitemporal Field Defects

1958 • 23 citations

Chromosomal Organization of Mammalian POU Domain Factors

1993 • 23 citations

Hereditary optic atrophies in childhood.

1966 • 23 citations

Autosomal dominant polycystic kidney disease: clinical and genetic aspects.

1998 • 21 citations

FOUR FAMILIES WITH THE DOMINANT INFANTILE FORM OF OPTIC NERVE ATROPHY*

1970 • 20 citations

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.

1997 • 20 citations

Hereditary infantile optic atrophy with dominant transmission; preliminary report.

1956 • 19 citations

A family with apparently sex-linked optic atrophy.

1975 • 17 citations

DIFFERENT TYPES OF HEREDITARY OPTIC ATROPHY

1957 • 17 citations

Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss.

1991 • 17 citations

A Rat Gene With Sequence Homology to the Drosophila Gene Hairy is Rapidly Induced by Growth Factors Known to Influence Neuronal Differentiation

1993 • 17 citations

Probable autosomal dominant optic atrophy with hearing loss

1985 • 16 citations

Psychophysical and visual evoked potential findings in hereditary optic atrophy.

1979 • 16 citations

Color vision in dominant optic atrophy.

1992 • 16 citations

Diagnosis of dominant infantile optic atrophy in early childhood

1988 • 16 citations

THE ASSESSMENT OF ACQUIRED DYSCHROMATOPSIA AND CLINICAL INVESTIGATION OF THE ACQUIRED TRITAN DEFECT IN DOMINANTLY INHERITED JUVENILE ATROPHY

1972 • 14 citations

A Pedigree of Congenital Optic Atrophy Embracing Sixteen Affected Cases in Six Generations

1935 • 13 citations

Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28

1997 • 12 citations

A family with sex linked optic atrophy

1974 • 12 citations

A family with optic atrophy and congenital hearing loss

1994 • 8 citations

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY

1998 • 8 citations

Types of acquired colour deficiencies caused by autosomal-dominant infantile optic atrophy.

1972 • 7 citations

Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.

1994 • 6 citations

Fine scale mapping places DLG1, the gene encoding hDlg, telomeric to the OPA1 candidate region

1997 • 3 citations

P 440 Linkage analysis in english pedigrees with dominant optic atrophy

1995 • 1 citations

Physical mapping of the OPA1 region and linkage disequilibrium analysis in dominant optic atrophy

1998 • 1 citations

Physical mapping of the dominant optic atrophy gene, OPA1

1997 • 1 citations

Deleted Work

1955 • 0 citations

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