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。Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Daniel Taliun et al.
NATURE (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency
Anshika Srivastava et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Cystic Leucoencephalopathy in NDUFV1 Mutation
Yamini Wadhwa et al.
INDIAN JOURNAL OF PEDIATRICS (2018)
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant
Fabian Baertling et al.
JOURNAL OF PEDIATRICS (2018)
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
Faruk Incecik et al.
JOURNAL OF PEDIATRIC NEUROSCIENCES (2018)
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
Michel Satya Naslavsky et al.
HUMAN MUTATION (2017)
The clinical and genetic characteristics in children with mitochondrial disease in China
Fang Fang et al.
SCIENCE CHINA-LIFE SCIENCES (2017)
Structure of mammalian respiratory complex I
Jiapeng Zhu et al.
NATURE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system
Febin Varghese et al.
HUMAN MOLECULAR GENETICS (2015)
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
Kristoffer Bjorkman et al.
MITOCHONDRION (2015)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Mitochondrial Complex I
Judy Hirst
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 82 (2013)
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2
Samantha E. Marin et al.
GENE (2013)
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
Oscar Ortega-Recalde et al.
MITOCHONDRION (2013)
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome
C. Vilain et al.
CLINICAL GENETICS (2012)
Complex I deficiency: clinical features, biochemistry and molecular genetics
Elisa Fassone et al.
JOURNAL OF MEDICAL GENETICS (2012)
Kaviar: an accessible system for testing SNV novelty
Gustavo Glusman et al.
BIOINFORMATICS (2011)
How mitochondria produce reactive oxygen species
Michael P. Murphy
BIOCHEMICAL JOURNAL (2009)
Functional Annotations Improve the Predictive Score of Human Disease-Related Mutations in Proteins
Remo Calabrese et al.
HUMAN MUTATION (2009)
MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency and NDUFV1 Mutations and Mild Clinical Course
D. I. Zafeiriou et al.
NEUROPEDIATRICS (2008)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
P Bénit et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)