Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Screening study of TUBB4A in isolated dystonia.
|
28655586 |
2017 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
[A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review].
|
28592043 |
2017 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
|
27188707 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
|
26643067 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
|
24974158 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
|
26318963 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
|
25545912 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
|
25168210 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
|
24742798 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
TUBB4A de novo mutations cause isolated hypomyelination.
|
25085639 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
|
24526230 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
|
24850488 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
|
24706558 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
|
24785942 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
|
23595291 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
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 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.
|
21956287 |
2011 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.
|
20191564 |
2010 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.
|
12372733 |
2002 |