Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
about
AMD and the alternative complement pathway: genetics and functional implicationsMissense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorMEIS1 variant as a determinant of autonomic imbalance in Restless Legs Syndrome.Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traitsBRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Genetic variants associated with sleep disorders.Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.Genetic associations of periodic limb movements of sleep in the elderly for the MrOS sleep study.Restless legs syndrome associated with major diseases: A systematic review and new concept.Rare missense mutations in P2RY11 in narcolepsy with cataplexy.Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.Zebrafish models of cardiovascular disease.Animal models of RLS phenotypes.Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits.Meis1: effects on motor phenotypes and the sensorimotor system in miceThe segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
P2860
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P2860
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Targeted resequencing and syst ...... ors to restless legs syndrome.
@ast
Targeted resequencing and syst ...... ors to restless legs syndrome.
@en
type
label
Targeted resequencing and syst ...... ors to restless legs syndrome.
@ast
Targeted resequencing and syst ...... ors to restless legs syndrome.
@en
altLabel
Targeted Resequencing and Syst ...... tors to Restless Legs Syndrome
@en
prefLabel
Targeted resequencing and syst ...... ors to restless legs syndrome.
@ast
Targeted resequencing and syst ...... ors to restless legs syndrome.
@en
P2093
P2860
P50
P1476
Targeted resequencing and syst ...... ors to restless legs syndrome.
@en
P2093
Cornelius G Bachmann
Erik Tilch
Franziska Knauf
Ingo Fietze
Klaus Berger
Magdolna Hornyak
Maria Kousi
Perciliz L Tan
P2860
P356
10.1016/J.AJHG.2014.06.005
P407
P50
P577
2014-07-01T00:00:00Z