4.5 Article

Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data

Related references

Note: Only part of the references are listed.
Letter Clinical Neurology

Sensorineural hearing loss in OPA1-linked disorders

Stephanie Leruez et al.

BRAIN (2013)

Article Biochemistry & Molecular Biology

Genenames.org: the HGNC resources in 2013

Kristian A. Gray et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Genetics & Heredity

Guidelines for Establishing Locus Specific Databases

Mauno Vihinen et al.

HUMAN MUTATION (2012)

Review Genetics & Heredity

Dominant optic atrophy

Guy Lenaers et al.

ORPHANET JOURNAL OF RARE DISEASES (2012)

Article Genetics & Heredity

LOVD v.2.0: The Next Generation in Gene Variant Databases

Ivo F. A. C. Fokkema et al.

HUMAN MUTATION (2011)

Article Biochemistry & Molecular Biology

Database resources of the National Center for Biotechnology Information

Eric W. Sayers et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Ophthalmology

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

Patrick Yu-Wai-Man et al.

OPHTHALMOLOGY (2010)

Article Ophthalmology

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

P. KJER et al.

ACTA OPHTHALMOLOGICA (2009)

Article Clinical Neurology

OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes

Patrizia Amati-Bonneau et al.

BRAIN (2008)

Article Medicine, General & Internal

A lethal defect of mitochondrial and peroxisomal fission

Hans R. Waterham et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Ophthalmology

Autosomal dominant optic atrophy:: Penetrance and expressivity in patients with OPA1 mutations

Amn C. Cohn et al.

AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)

Article Biochemistry & Molecular Biology

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

Christian Frezza et al.

Review Biochemistry & Molecular Biology

Mitochondrial dynamics and disease, OPA1

Aurelien Olichon et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)

Article Clinical Neurology

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

P Amati-Bonneau et al.

ANNALS OF NEUROLOGY (2005)

Article Genetics & Heredity

eOPA1:: An online database for OPA1 mutations

M Ferré et al.

HUMAN MUTATION (2005)

Article Biochemistry & Molecular Biology

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

A Olichon et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Review Endocrinology & Metabolism

OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease

C Delettre et al.

MOLECULAR GENETICS AND METABOLISM (2002)

Article Genetics & Heredity

Mutation spectrum and splicing variants in the OPA1 gene

C Delettre et al.

HUMAN GENETICS (2001)

Article Genetics & Heredity

Nomenclature for the description of human sequence variations

JT den Dunnen et al.

HUMAN GENETICS (2001)

Article Biochemistry & Molecular Biology

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

UEA Pesch et al.

HUMAN MOLECULAR GENETICS (2001)