A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype-Reference-Cited by-同舟云学术

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype

Published:2018-05 Issue:3 Volume:22 Page:563-567
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Iapadre Giulia,Morana Giovanni,Vari Maria Stella,Pinto Francesca^ORCID,Lanteri Paola,Tessa Alessandra,Santorelli Filippo Maria,Striano Pasquale,Verrotti Alberto

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference13 articles.

2. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: case report and literature review;Tan;Am J Med Genet Part A,2016

3. Mitochondrial dynamics and inherited peripheral nerve diseases;Pareyson;Neurosci Lett,2015

4. Hereditary motor and sensory neuropathy type VI with bilateral middle cerebellar peduncle involvement;Oh;Exp Neurol,2014

5. Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations;Piscosquito;J Peripher Nerv Syst,2015

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1. Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria;Brain;2023-10-07

2. A Novel Interaction between MFN2/Marf and MARK4/PAR-1 Is Implicated in Synaptic Defects and Mitochondrial Dysfunction;eneuro;2023-08

3. Mitochondrial protein dysfunction in pathogenesis of neurological diseases;Frontiers in Molecular Neuroscience;2022-09-07

4. Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot–Marie–Tooth disease;International Ophthalmology;2022-08-12

5. The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology;Frontiers in Cell and Developmental Biology;2022-03-24