Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.
Beręsewicz M et al.
Scientific Reports, 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
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 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS et al.
Brain : a Journal of Neurology, 2012
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