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Cecile Rouzier et al.
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MFN2 mutations cause compensatory mitochondrial DNA proliferation
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Phenotypic spectrum of MFN2 mutations in the Spanish population
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MOLECULAR BIOLOGY OF THE CELL (2009)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau et al.
BRAIN (2008)
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations
Elizabeth A. Amiott et al.
EXPERIMENTAL NEUROLOGY (2008)
Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases
Christophe Rocher et al.
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Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma
Gabor Zsurka et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2008)
Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells
Andrey V. Kuznetsov et al.
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Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions:: a novel disorder of mtDNA maintenance
Gavin Hudson et al.
BRAIN (2008)
Mitochondrial fusion protects against neurodegeneration in the cerebellum
Hsiuchen Chen et al.
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Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease
Dominique Loiseau et al.
ANNALS OF NEUROLOGY (2007)
Disruption of fusion results in mitochondrial heterogeneity and dysfunction
HC Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system
S Pich et al.
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Mitochondrial fusion intermediates revealed in vitro
S Meeusen et al.
SCIENCE (2004)
Two direct repeats cause most human mtDNA deletions
DC Samuels et al.
TRENDS IN GENETICS (2004)
Structural basis of mitochondrial tethering by mitofusin complexes
T Koshiba et al.
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S Züchner et al.
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Seizure-dependent modulation of mitochondrial oxidative phosphorylation in rat hippocampus
AP Kudin et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2002)
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
C Delettre et al.
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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander et al.
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