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。Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health
Satu Strausz et al.
EUROPEAN RESPIRATORY JOURNAL (2021)
Sleep Disorders in Mitochondrial Diseases
Valerio Brunetti et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2021)
Molecular determinants of obstructive sleep apnea
Mohit et al.
SLEEP MEDICINE (2021)
Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program
Brian E. Cade et al.
GENOME MEDICINE (2021)
Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank
Zhaozhong Zhu et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)
Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease
Hui Wang et al.
NEUROBIOLOGY OF AGING (2020)
Estimation of the global prevalence and burden of obstructive sleep apnoea: a literature-based analysis
Adam V. Benjafield et al.
LANCET RESPIRATORY MEDICINE (2019)
Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans
Heming Wang et al.
HUMAN MOLECULAR GENETICS (2019)
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy
Maria G. Otero et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)
The Last 25 Years of Obstructive Sleep Apnea Epidemiology-and the Next 25?
Paul E. Peppard et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2018)
The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis
Isotta Lorenzi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2018)
Clinical Practice Guideline for Diagnostic Testing for Adult Obstructive Sleep Apnea: An American Academy of Sleep Medicine Clinical Practice Guideline
Vishesh K. Kapur et al.
JOURNAL OF CLINICAL SLEEP MEDICINE (2017)
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders
Raony G. C. C. L. Cardenas et al.
PLOS COMPUTATIONAL BIOLOGY (2017)
Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans
Brian E. Cade et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Obstructive sleep apnoea syndrome
Patrick Levy et al.
NATURE REVIEWS DISEASE PRIMERS (2015)
Loss of Tropomodulin4 in the zebrafish mutant trage causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy
Joachim Berger et al.
DISEASE MODELS & MECHANISMS (2014)
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase
Myriam Bourens et al.
HUMAN MOLECULAR GENETICS (2014)
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
Sarah Doss et al.
JOURNAL OF NEUROLOGY (2014)
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia
Radek Szklarczyk et al.
HUMAN MOLECULAR GENETICS (2013)
Functional characterization of putative cilia genes by high-content analysis
Cary K. Lai et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
A Candidate Gene Study of Obstructive Sleep Apnea in European Americans and African Americans
Emma K. Larkin et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2010)
VIEWPOINT Missing heritability and strategies for finding the underlying causes of complex disease
Evan E. Eichler et al.
NATURE REVIEWS GENETICS (2010)
Shared genetic basis for obstructive sleep apnea and adiposity measures
S. R. Patel et al.
INTERNATIONAL JOURNAL OF OBESITY (2008)
Tracheostomy in children with nemaline core myopathy
BJ Cook et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2005)
Tropomodulins: life at the slow end
RS Fischer et al.
TRENDS IN CELL BIOLOGY (2003)
Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs
PR Cox et al.
GENOMICS (2000)