Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations-Reference-Cited by-同舟云学术

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Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Published:2014-11-20 Issue: Volume:5 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Invernizzi Federica,Ardissone Anna,Lamantea Eleonora,Garavaglia Barbara,Zeviani Massimo,Farina Laura,Ghezzi Daniele,Moroni Isabella

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference14 articles.

1. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy;Ajit Bolar;Hum. Mol. Genet,2013

2. Clinical and molecular findings in children with complex I deficiency;Bugiani;Biochim. Biophys. Acta,2004

3. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes;Cameron;Am. J. Hum. Genet,2011

4. Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease;Ferrer-Cortes;J. Inherit. Metab. Dis,2013

5. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy;Kashani;Neurogenetics,2014

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1. Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3;Molecular Genetics & Genomic Medicine;2024-06

2. In utero and post-natal opioid exposure followed by mild traumatic brain injury contributes to cortical neuroinflammation, mitochondrial dysfunction, and behavioral deficits in juvenile rats;Brain, Behavior, & Immunity - Health;2023-10

3. Vanishing white matter in multiple mitochondrial dysfunction syndrome-2 due to compound heterozygosity for novel BOLA3 variants;Revue Neurologique;2023-10

4. Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients;European Journal of Neurology;2023-04-25

5. Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1;Disease Models & Mechanisms;2023-02-01

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