4.2 Review

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

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 Multidisciplinary Sciences

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Daniel Taliun et al.

Summary: The TOPMed program aims to study the genetic architecture and biology of heart, lung, blood, and sleep disorders to improve diagnosis, treatment, and prevention of these diseases. Resources include a variant browser, genotype imputation server, and genomic and phenotypic data available through dbGaP. The study detected a large number of rare genetic variants, providing insights into mutation processes and recent human evolutionary history.

NATURE (2021)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Anshika Srivastava et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2018)

Article Pediatrics

Cystic Leucoencephalopathy in NDUFV1 Mutation

Yamini Wadhwa et al.

INDIAN JOURNAL OF PEDIATRICS (2018)

Article Clinical Neurology

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)

Article Genetics & Heredity

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Michel Satya Naslavsky et al.

HUMAN MUTATION (2017)

Article Multidisciplinary Sciences

Structure of mammalian respiratory complex I

Jiapeng Zhu et al.

NATURE (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Review Biochemistry & Molecular Biology

Mitochondrial Complex I

Judy Hirst

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 82 (2013)

Review Genetics & Heredity

Complex I deficiency: clinical features, biochemistry and molecular genetics

Elisa Fassone et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Biochemical Research Methods

Kaviar: an accessible system for testing SNV novelty

Gustavo Glusman et al.

BIOINFORMATICS (2011)

Review Biochemistry & Molecular Biology

How mitochondria produce reactive oxygen species

Michael P. Murphy

BIOCHEMICAL JOURNAL (2009)

Article Biochemistry & Molecular Biology

Human non-synonymous SNPs: server and survey

V Ramensky et al.

NUCLEIC ACIDS RESEARCH (2002)