|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
|
29243232 |
2018 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
|
28193117 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
|
28263302 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
|
28325891 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
|
26395554 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
|
25609763 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
|
24307404 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
|
23603762 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
|
22459677 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
|
22847149 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
|
22368300 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
|
21820100 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structure and functional role of dynein's microtubule-binding domain.
|
19074350 |
2008 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Human disorders of cortical development: from past to present.
|
16519653 |
2006 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk.
|
15826937 |
2005 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.
|
9781046 |
1998 |