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Pingping Jiang et al.
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Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy
Yanchun Ji et al.
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Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy
Pingping Jiang et al.
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Onset of rosette formation during spontaneous neural differentiation of hESC and hiPSC colonies
Sergey Malchenko et al.
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Neuronal morphometry directly from bitmap images
Tiago A. Ferreira et al.
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A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential
Shasha Gong et al.
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A practical guide to evaluating colocalization in biological microscopy
Kenneth W. Dunn et al.
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Simple Neurite Tracer: open source software for reconstruction, visualization and analysis of neuronal processes
Mark H. Longair et al.
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Alfredo A. Sadun et al.
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The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation
Yaping Qian et al.
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Pete A. Williams et al.
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Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
Xiangtian Zhou et al.
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Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders
Valerio Carelli et al.
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Inherited mitochondrial optic neuropathies
P. Yu-Wai-Man et al.
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SM-164: A Novel, Bivalent Smac Mimetic That Induces Apoptosis and Tumor Regression by Concurrent Removal of the Blockade of cIAP-1/2 and XIAP
Jianfeng Lu et al.
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Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Rosa Pello et al.
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Induction of pluripotent stem cells from adult human fibroblasts by defined factors
Kazutoshi Takahashi et al.
CELL (2007)
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
G Hudson et al.
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Design and validation of a tool for neurite tracing and analysis in fluorescence microscopy images
E Meijering et al.
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Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
MD Brown et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)