Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
|
29451896 |
2018 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
|
28973395 |
2017 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
|
26643067 |
2016 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
|
26643067 |
2016 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
|
25545912 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
|
24974158 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
|
25772097 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
|
25168210 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TUBB4A de novo mutations cause isolated hypomyelination.
|
25085639 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
|
24850488 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
|
24526230 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
|
24742798 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
|
24785942 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
|
24706558 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
|
24785942 |
2014 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
|
23582646 |
2013 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
|
23582646 |
2013 |