Pages that link to "Q48530136"
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The following pages link to MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. (Q48530136):
Displaying 50 items.
- Ascorbic acid for the treatment of Charcot-Marie-Tooth disease (Q24187132) (← links)
- Treatment for Charcot-Marie-Tooth disease (Q24242777) (← links)
- Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence (Q24307751) (← links)
- Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach (Q26768401) (← links)
- Charcot-Marie-Tooth disease and intracellular traffic (Q26824841) (← links)
- The dynamics of the mitochondrial organelle as a potential therapeutic target (Q26853454) (← links)
- Mitoconfusion: noncanonical functioning of dynamism factors in static mitochondria of the heart (Q27001001) (← links)
- An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle (Q27346734) (← links)
- A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. (Q27939124) (← links)
- Diagnosis, natural history, and management of Charcot–Marie–Tooth disease (Q28111977) (← links)
- A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function (Q28289677) (← links)
- Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration (Q28566372) (← links)
- Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases (Q29615646) (← links)
- Low-dose ionizing radiation induces mitochondrial fusion and increases expression of mitochondrial complexes I and III in hippocampal neurons (Q30389273) (← links)
- CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene (Q30497795) (← links)
- MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families (Q33547163) (← links)
- Peroxisome proliferator-activated receptor delta regulates mitofusin 2 expression in the heart (Q33752733) (← links)
- A role for peroxisome proliferator-activated receptor γ coactivator-1 in the control of mitochondrial dynamics during postnatal cardiac growth (Q33771850) (← links)
- Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex (Q33779586) (← links)
- The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan (Q34113736) (← links)
- Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia (Q34143936) (← links)
- miR-484 regulates mitochondrial network through targeting Fis1. (Q34268823) (← links)
- Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila (Q34408084) (← links)
- Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases (Q34465428) (← links)
- Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations (Q34600251) (← links)
- Mitochondrial morphogenesis, distribution, and Parkinson disease: insights from PINK1 (Q34610341) (← links)
- Charcot-Marie-Tooth disease subtypes and genetic testing strategies (Q34681666) (← links)
- Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family (Q34733503) (← links)
- Mitochondrial biogenesis and healthy aging (Q34802002) (← links)
- Mitophagy: therapeutic potentials for liver disease and beyond (Q34906459) (← links)
- Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies (Q34993202) (← links)
- MFN2 mutations cause severe phenotypes in most patients with CMT2A. (Q34999364) (← links)
- Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2 (Q35074642) (← links)
- Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. (Q35117082) (← links)
- The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family (Q35623448) (← links)
- Maintaining ancient organelles: mitochondrial biogenesis and maturation (Q35645509) (← links)
- Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction (Q35708874) (← links)
- Mitofusin 2 Deficiency Affects Energy Metabolism and Mitochondrial Biogenesis in MEF Cells. (Q35730485) (← links)
- Mitofusin 2 (Mfn2) links mitochondrial and endoplasmic reticulum function with insulin signaling and is essential for normal glucose homeostasis (Q35887283) (← links)
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy (Q35984327) (← links)
- Mitochondrial fission determines cisplatin sensitivity in tongue squamous cell carcinoma through the BRCA1-miR-593-5p-MFF axis (Q36020872) (← links)
- Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations (Q36117760) (← links)
- Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle (Q36210125) (← links)
- Transforming growth factor-β, bioenergetics, and mitochondria in renal disease (Q36239718) (← links)
- The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient. (Q36246291) (← links)
- Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria (Q36528646) (← links)
- How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases? (Q36551267) (← links)
- Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? (Q36662116) (← links)
- A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2. (Q36667926) (← links)
- Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations (Q36692919) (← links)