1 |
Phenotypic evolution of UNC80 loss of function.
25
|
Valkanas E...Boerkoel CF
|
27513830 |
2016 |
2 |
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
25
|
Perez Y...Birk OS
|
26545877 |
2016 |
3 |
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
25
|
Stray-Pedersen A...Yoon G
|
26708751 |
2016 |
4 |
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
25
|
Shamseldin HE...Alkuraya FS
|
26708753 |
2016 |
5 |
The sodium leak channel, NALCN, in health and disease.
25
|
Cochet-Bissuel M...Monteil A
|
24904279 |
2014 |
6 |
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
25
|
Al-Sayed MD...Kaya N
|
24075186 |
2013 |
7 |
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
25
|
Koroglu C...Tolun A
|
23749988 |
2013 |
8 |
UNC79 and UNC80, putative auxiliary subunits of the NARROW ABDOMEN ion channel, are indispensable for robust circadian locomotor rhythms in Drosophila.
25
|
Lear BC...Allada R
|
24223770 |
2013 |
9 |
Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.
25
|
Lu B...Ren D
|
21040849 |
2010 |
10 |
Conserved role of unc-79 in ethanol responses in lightweight mutant mice.
25
|
Speca DJ...McIntire SL
|
20714347 |
2010 |
11 |
Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.
25
|
Lu B...Ren D
|
19092807 |
2009 |
12 |
A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans.
25
|
Yeh E...Zhen M
|
18336069 |
2008 |
13 |
The sodium "leak" has finally been plugged.
25
|
Snutch TP...Monteil A
|
17521564 |
2007 |
14 |
The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm.
25
|
Lu B...Ren D
|
17448995 |
2007 |
15 |
Overview of molecular relationships in the voltage-gated ion channel superfamily.
25
|
Yu FH...Catterall WA
|
16382097 |
2005 |
16 |
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.
61
|
Kuptanon C...Shotelersuk V
|
30771478 |
2019 |
17 |
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
61
|
Obeid T...Bastaki F
|
29430593 |
2018 |
18 |
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.
61
|
He Y...Sun Y
|
29572195 |
2018 |
19 |
UNC80 Deficiency
61
|
Boerkoel C...du Souich C
|
28933810 |
2017 |