4.6 Article

The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

Zhimei Liu et al.

Summary: This study reported the clinical presentations, neuroimaging, and molecular and functional analyses of novel mutations in NDUFV2 in two sibling pairs of two Chinese families with Progressive cavitating leukoencephalopathy (PCL). These patients exhibited recurring episodes of acute or subacute developmental regression with leukoencephalopathy and were confirmed to have Complex I deficiency. The mutations in NDUFV2 were found to affect the protein's structural stability and function, contributing to the phenotypes observed in these individuals.

JOURNAL OF MEDICAL GENETICS (2022)

Article Genetics & Heredity

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL

Nurun Nahar Borna et al.

Article Clinical Neurology

Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood

Jie Zhang et al.

PEDIATRIC NEUROLOGY (2019)

Article Pediatrics

Cystic Leucoencephalopathy in NDUFV1 Mutation

Yamini Wadhwa et al.

INDIAN JOURNAL OF PEDIATRICS (2018)

Article Clinical Neurology

Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?

Parayil Sankaran Bindu et al.

MULTIPLE SCLEROSIS AND RELATED DISORDERS (2018)

Article Clinical Neurology

Targeted exome sequencing of suspected mitochondrial disorders

Daniel S. Lieber et al.

NEUROLOGY (2013)

Review Biochemistry & Molecular Biology

Is multiple sclerosis a mitochondrial disease?

Peizhong Mao et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2010)

Article Clinical Neurology

Complex I deficiency in Persian multiple sclerosis patients

HH Kumleh et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)

Article Clinical Neurology

Progressive cavitating leukoencephalopathy: A novel childhood disease

S Naidu et al.

ANNALS OF NEUROLOGY (2005)

Article Clinical Neurology

Genetic variants of Complex I in multiple sclerosis

T Vyshkina et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2005)