Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
Sensory-Motor Neuropathy in Mfn2 T105M Knock-in Mice and Its Reversal by a Novel Piperine-Derived Mitofusin Activator.
Weigele J et al.
The Journal of Pharmacology and Experimental Therapeutics, 2024
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T et al.
Journal of Neurology, 2024
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A et al.
Elife, 2023
Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases.
Franco A et al.
Life (basel, Switzerland), 2022
The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort.
Ma Y et al.
Frontiers in Neurology, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Larrea D et al.
Human Molecular Genetics, 2019
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando M et al.
Journal of the Peripheral Nervous System : Jpns, 2017
MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.
Xie Y et al.
Journal of the Peripheral Nervous System : Jpns, 2016
A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome.
Dello Russo C et al.
Prenatal Diagnosis, 2015
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G et al.
Neuromolecular Medicine, 2014
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.
Schreiber S et al.
Muscle & Nerve, 2013
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.
Vielhaber S et al.
Acta Neuropathologica, 2013
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
Fawcett KA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS et al.
Brain : a Journal of Neurology, 2012
Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.
Eschenbacher WH et al.
Plos One, 2012
Phenotypic spectrum of MFN2 mutations in the Spanish population.
Casasnovas C et al.
Journal of Medical Genetics, 2010
Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering.
Makio T et al.
Contact (thousand Oaks (ventura County, Calif.)), 0